Publication List

I. Original articles

Roos A*, Linda-Isabell Schmitt LI*, Hansmann C, Hezel S, Salmanian S, Hentschel A, Meyer N, Della Marina A, Kölbel H, Kleinschnitz C, Schara-Schmidt U, Leo M, Hagenacker T. Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy. Acta Neuropathol. 2024 Mar 12;147(1):53.
[doi: 10.1007/s00401-024-02709-x; PMID: 38470509]

Pugliese A, Della Marina A, de Paula Estephan E, Zanoteli E, Roos A, Schara-Schmidt U, Hentschel A, Azuma Y, Töpf A, Thompson R, Polavarapu K, Lochmüller H. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.J Neurol. 2024 Mar;271(3):1331-1341. [doi: 10.1007/s00415-023-12070-w; PMID: 37923938]

Kleefeld F, Horvath R, Pinal-Fernandez I, Mammen AL, Casal-Dominguez M, Hathazi D, Melchert S, Hahn K, Sickmann A, Muselmann-Genschow C, Hentschel A, Preuße C, Roos A*, Schoser B*, Stenzel W*. Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2. Acta Neuropathol. 2024 Jan 19;147(1):19. [doi: 10.1007/s00401-023-02673-y; PMID: 38240888]

Smeets H, Verbrugge B, Bulbena X, Hristova L, Vogt J, van Beckhoven I; on behalf of all participants (Allamand V, Almekinders J, Barquinero J, Berreur S, Bönnemann C, Bouman K,  de Bruin L, Caron L, Damon C, Durbeej M, Feijen D, Foley R, Goncalves AR, Camelo CG, Güell M, Haliloglu G, Kemaladewi D, Klein A, Koleda N, Minko O, Munell F, Nebermann T, Pini V, Previtali S, Roos A, Rüegg M, Sarkozy A, Seferian A, Stepniewski J, van Straten E, van Tienen F, Quijano-Roy S, Voermans N, West A, Yurchenco P); Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy. March 17-19, 2023, Barcelona, Spain. Neuromuscul Disord. 2024 Jan 9;36:16-22. (Online ahead of print). [doi: 10.1016/j.nmd.2024.01.001; PMID: 38306718]

Gangfuß A, Rating P, Ferreira T, Hentschel A, Marina AD, Kölbel H, Sickmann A, Abicht A, Kraft F, Ruck T, Böhm J, Schänzer A, Schara-Schmidt U, Neuhann TM, Horvath R, Roos A. A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy. J Neuromuscul Dis. 2024 Jan 8. (Online ahead of print). [doi: 10.3233/JND-230181; PMID: 38217609]

Rohm M, Russo G, Helluy X, Froeling M, Umathum V, Südkamp N, Manahan-Vaughan D, Rehmann R, Forsting J, Jacobsen F, Roos A, Shin Y, Schänzer A, Vorgerd M, Schlaffke L. Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease. Sci Rep. 2023 Dec 20;13(1):22822. [doi: 10.1038/s41598-023-49971-9; PMID: 38129558]

Boeing A, Mavrommatis L, Daya NM, Zhuge H, Volke L, Kocabas A, Kneifel M, Athamneh M, Krause K, Südkamp N, Döring K, Theiss C, Roos A, Zaehres H, Güttsches AK, Vorgerd M. Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease. Stem Cell Res
2023 Oct 4 (Online ahead of print). [doi: 10.1016j.scr.2023.103220; PMID: 37839261]

Aschman T, Wyler E, Baum O, Hentschel A, Rust R, Legler F, Preusse C, Meyer-Arndt L, Büttnerova I, Förster A, Cengiz D, Alves LGT, Schneider J, Kedor C, Bellmann-Strobl J, Sanchin A, Goebel HH, Landthaler M, Corman V, Roos A, Heppner FL, Radbruch H, Paul F, Scheibenbogen C, Dengler NF, Stenzel W. Post-COVID exercise intolerance is associated with capillary alterations and immune dysregulations in skeletal muscles. Acta Neuropathol Commun. (Accepted paper)

Leo M, Schmitt L I, Mairinger F, Roos A, David C, Hezel S, Skuljec J, Pul R, Schara-Schmidt U, Kleinschnitz C, Hagenacker T. Analysis of free circulating messenger ribonucleic acids in serum samples from late-onset spinal muscular atrophy patients using nCounter NanoString technology. Cells. 2023 Sep 28 [doi: 10.3390/cells12192374; PMID: 37830588] Read online

Erbe LS, Hoffjan S, Janßen S, Kneifel M, Krause K, Gerding WM, Döring K, Güttsches AK, Roos A, Atienza EB, Gross C, Lücke T, Nguyen HP, Vorgerd M, Köhler C. Exome sequencing and optical genome mapping in molecularly unsoled cases of Duchenne muscular dystrophy: Identification of a causative X-chromosomal inversion disrupting the DMD gene.  Int J Mol Sci. 2023 Sep 28;24(19):14716.
[doi: 10.3390/ijms241914716; PMID: 37834164]

Nelke C, Schroeter CB, Theissen L, Preuße C, Pawlitzki M, Räuber S, Dobelmann V, Cengiz D, Kleefeld F, Roos A, Schoser B, Brunn A, Neuen-Jacob E, Zschüntzsch J, Meuth SG, Stenzel W, Ruck T. Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositis. Acta Neuropathologica. 2023 Sep 29. (Online ahead of print.) [doi: 10.1007/s00401-023-02637-2; PMID: 37773216]

Daya N, Mavrommatis L, Athamneh M, Zaehres H, Roos A, Zhuge H, Gläser D, Doehring K, Vorgerd M, Güttsches A. Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy. Stem Cell Res. 2023 Sep 21 (Online ahead of print). [doi: 10.1016/j.scr.2023.103210; PMID: 37748332]

Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, Ceuterick de Groote C, de Jonghe P, Timmerman V, Baets J, Weis J. Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort. Brain Pathol. 2023 Aug 15;e13200. Online ahead of print.
[doi: 10.1111/bpa.13200; PMID: 37581289]

Kleefeld F, Hentschel A, von Moers A, Hahn K, Horvath R, Goebel HH, Preusse C, Schallner J, Schuelke M*, Roos A*, Stenzel W*. Beyond vacuolar pathology: Multi-omic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis. Neuropathol Appl Neurobiol. 2023 Jun 16;e12920. Online ahead of print. [doi: 10.1111/nan.12920; PMID: 37328427].

Rohm M, Volke L, Schlaffke L, Rehmann R, Südkamp N, Roos A, Schänzer A, Hentschel A, Vorgerd M. Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model. Cells. 2023 Jun 11;12(12):1602. [doi: 10.3390/cells12121602; PMID: 37371072].

Nelke C, Schroeter CB, Stascheit F, Huntemann N, Pawlitzki M, Willison AG, Räuber S, Melzer N, Distler U, Tenzer S, Stühler K, Roos A, Meisel A, Meuth SG, Ruck T. Eculizumab treatment alters the proteometabolome beyond the inhibiton of complement. JCI Insight. 2023 May 25:e169135. Online ahead of print. [doi: 10.1172/jci.insight.169135; PMID: 37227781].

Roos A*, van der Ven PFM*, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R Töpf A, O’Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A*, Depienne C*, Lochmüller H*. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. Brain. 2023 May 10;awad152. (Online ahead of print). [doi: 10.1093/brain/awad152; PMID: 37163662].

Sellung D, Heil L, Daya N, Jacobsen F, Mertens-Rill J, Zhuge H, Döring K, Piran M, Milting H, Unger A, Linke WA, Kley R, Preusse C, Roos A, Fürst DO, Ven PFMV, Vorgerd M. Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems. Cells. 2023 May 5;12(9):1321. Free PMC article. [doi: 10.3390/cells12091321; PMID: 37174721].

Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD Consortia* Roos A. et al. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing. Hum Genomics. 2023 May 3;17(1):39. [doi: 10.1186/s40246-023-00485-5; PMID: 37138343].

Unger A*, Roos A*, Gangfuß A, Hentschel A, Gläser D, Krause K, Doering K, Schara-Schmidt U, Hoffjan S, Vorgerd M, Güttsches AK. Microscopic and biochemical hallmarks of BICD2-associated muscle pathology toward the evaluation of novel variants. Int. J. Mol. Sci. 2023 Apr 6;24(7), 6808. [doi.org/10.3390/ijms24076808; PMID: 37047781]

Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, Vorgerd M, Thompson R, Polavarapu K, Lochmüller H, Preusse C, Hannappel L, Schänzer A, Grüneboom A, Gangfuß A, Roos A. A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023 Mar 21. [doi: 10.1007/s12035-023-03319-6; PMID: 36941504]

Schmitt LI, David C, Steffen R, Hezel S, Roos A, Schara-Schmidt U, Kleinschnitz C, Leo M, Hagenacker T. Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy. Acta Neuropathol. 2023 Mar 17. [doi: 10.1007/s00401-023-02554-4; PMID: 36930296]

Nguyen CDL, Jimenez-Moreno AC, Merker M, Bowers CJ, Nikolenko N, Hentschel A, Müntefering T, Isham A, Ruck T, Vorgerd M, Dobelmann V, Gourdon G, Schara-Schmidt U, Gangfuss A, Schröder C, Sickmann A, Gross C, Gorman G, Stenzel W, Kollipara L, Hathazi D, Spendiff S, Gagnon C, Preusse C, Duchesne E, Lochmüller H, Roos A. Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1. J Neurol. 2023 Mar 9. [doi: 10.1007/s00415-023-11633-1; PMID: 36892629]

Phan V, Hathazi D, Preuße C, Czech A, Freier E, Shema G, Zahedi RP, Roos A. Molecular mechanisms in chloroquine-exposed muscle cells elucidated by combined proteomic and microscopic studies. Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12877. [doi: 10.1111/nan.12877; PMID: 36633103]

Denommé-Pichon AS; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia* Roos A. et al. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genet Med. 2023 Apr;25(4):100018. Epub 2023 Jan 20. [doi:10.1016/j.gim.2023.100018; PMID: 36681873]

Danko V, Jüngert J, Schuessler S, Buehler A, Klett D, Federle A, Roos A, Lochmüller H, Neurath MF, Woelfle J, Trollmann R, Waldner MJ, Knieling F, Regensburger AP, Wagner AL. Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy. J Neuroimaging. 2023 May-Jun;33(3):393-403. Epub 2023 Jan 10. [doi: 10.1111/jon.13081; PMID: 36627228]

Klann PJ, Wang X, Elfert A, Zhang W, Köhler  C, Güttsches AK,Jacobsen F, Weyen U, Roos A, Ehrke-Schulz E, Ehrhardt A, Vorgerd M, Bayer W. Seroprevalence of Binding and Neutralizing Antibodies against 39 Human Adenovirus Types in Patients with Neuromuscular Disorders. Viruses. 2022 Dec 27;15(1):79. [doi: 10.3390/v15010079; PMID: 36680119]

Spendiff A, Dong Y, Maggi L, Beeson D, Rodríguez Cruz PM, Lochmüller H, on behalf of the ENMC 260th workshop study group (Beeson D, Bönnemann C, Burden S, Rodríguez Cruz PM, Dong Y, Escuder I, Friconneau M, Lochmüller H, Maggi L, Milone M, Muntoni F, Natera-de Benito D, Palace J, Ramdas S, Roos A, Schara-Schmidt U. 260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Naarden, The Netherlands. Neuromuscul Disord. 2022 Dec 14;S0960-8966(22)00730-1. [doi: 10.1016/j.nmd.2022.12.006; PMID: 36609117]

Forsting J, Rohm M, Froeling M, Güttsches AK, Südkamp N, Roos A, Vorgerd M, Schlaffke L, Rehmann R. Quantitative muscle MRI captures early muscle degeneration in calpainopathy. Sci Rep. 2022 Nov 16;12(1):19676. [doi: 10.1038/s41598-022-23972-6; PMID: 36385624]

van Cruchten RTP, van As D, Glennon JC, van Engelen BGM, 't Hoen PAC, OPTIMISTIC consortium; ReCognitION consortium; Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Cumming S, Littleford R, Monckton DG, Lochmüller H, Catt M, Faber CG, Hapca A, Donnan PT,Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, Wansink DG, Impens F, Gabriels R, Claeys T, Ravel-Chapuis A, Jasmin BJ, Mahon N, Nieuwenhuis S, Martens L, Novak P, Furling D, Baak A, Gourdon G, MacKenzie A, Martinat C, Neault N, Roos A, Duchesne E, Salz R, Thompson R, Baghdoyan S, Varghese AM, Blom P, Spendiff S, Manta A.  Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. BMC Med. 2022 Nov 10;20(1):395. [doi: 10.1186/s12916-022-02591-y; PMID: 36352383]

Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes M, Stumpel M, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. HGG Advances. 2022 Nov 1. Online ahead of print. [doi: 10.1016/j.xhgg.2022.100157; PMID: 36408368]

Kleefeld F, Uruha A, Schänzer A, Nishimura A, Roos A, Schneider U, Goebel HH, Schuelke M, Hahn K, Preusse C, Stenzel W. Morphological and Molecular Patterns of Polymyositis with Mitochondrial Pathology and Inclusion Body Myositis. Neurology. 2022 Oct 4:10.1212. [doi: 10.1212/WNL.0000000000201103; PMID: 36195449]

Nelke C, Pawlitzki M, Schroeter CB, Huntemann N, Räuber S, Dobelmann V, Preusse C, Roos A, Allenbach Y, Benveniste O, Wiendl H, Lundberg IE, Stenzel W, Meuth SG, Ruck T. High-Dimensional Cytometry Dissects Immunological Fingerprints of Idiopathic Inflammatory Myopathies. Cells 2022 Oct; 11(20): 3330. [doi: 10.3390/cells11203330; PMID: 36291195]

Guettsches AK, Meyer N, Zahedi RP, Evangelista T, Muentefering T, Ruck T, Lacene E, Heute C, Gonczarowska-Jorge H, Schoser B, Krause S, Hentschel A, Vorgerd M, Roos A. FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology. Biomedicines. 2022 Sep 30;10(10):2443. [doi: 10.3390/biomedicines10102443; PMID: 36289705]

Preuße C, Paesler B, Nelke C, Cengiz D, Müntefering T, Roos A, Amelin D, Allenbach Y, Uruha A, Dittmayer C, Hentschel A, Pawlitzki M, Hoffmann S, Timm S, Louis SL, Dengler NF, Wiendl H, Lünemann JD, Sickmann A, Hervier B, Meuth SG, Schneider U, Schänzer A, Krause S, Tomaras S, Feist E, Hasseli R, Goebel HH, Gallay L, Streichenberger N, Benveniste O, Stenzel W, Ruck T. Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis. Acta Neuropathol. 2022 Aug 144(2):353-372. [doi: 10.1007/s00401-022-02438-z; PMID: 35612662]

Schorling DC, Kölbel H, Hentschel A, Pechmann A, Meyer N, Wirth B, Rombo R; SMArtCARE consortium, Sickmann A, Kirschner J, Schara-Schmidt U, Lochmüller H*, Roos A*. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy. Eur J Neurol. 2022 Jul 29(7):2084-2096. [doi: 10.1111/ene.15331; PMID: 35318785]

Gangfuß A, Hentschel A, Heil L, Gonzalez M, Schönecker A, Depienne C, Nishimura A, Zengeler D, Kohlschmidt N, Sickmann A, Schara-Schmidt U, Fürst DO, van der Ven PFM, Hahn A, Roos A, Schänzer A. Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1). Mol Genet Metab. 2022 Jul 136(3):226-237. [doi: 10.1016/j.ymgme.2022.05.005; PMID: 35660068]

Jackson J, Wischhof L, Scifo E, Pellizzer A, Wang Y, Piazzesi A, Gentile D, Siddig S, Stork M, Hopkins CE, Händler K, Weis J, Roos A, Schultze JL, Nicotera P, Ehninger D, Bano D. SGPL1 stimulates VPS39 recruitment to the mitochondria in MICU1 deficient cells. Mol Metab. 2022 Jul 61:101503. [doi: 10.1016/j.molmet.2022.101503; PMID: 35452878]

Preusse C, Marteau T, Fischer N, Hentschel A, Sickmann A, Lang S, Schneider U, Schara-Schmidt U, Meyer N, Ruck T, Dengler NF, Prudlo J, Dudesek A, Görl N, Allenbach Y, Benveniste O, Goebel HH, Dittmayer C, Stenzel W, Roos A. Endoplasmic reticulum-stress and unfolded protein response-activation in immune-mediated necrotizing myopathy. Brain Pathol. 2022 Jun 15:e13084. [doi: 10.1111/bpa.13084; PMID: 35703068]

Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar İP, Gao F, Rieger A, Arslan N, Yilmaz E, Ekinci B, Edem PP, Aslan M, Özgör B, Lochmüller A, Nair A, O'Heir E, Lovgren AK, Broad Center for Mendelian Genomics, Maroofian R, Houlden H, Polavarapu K, Roos A, Müller JS, Hathazi D, Chinnery PF, Laurie S, Beltran S, Lochmüller H, Horvath R. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain. 2022 May 145(4):1507-1518. [doi: 10.1093/brain/awab395; PMID: 34791078]

Kölbel H, Kraft F, Hentschel A, Czech A, Gangfuss A, Mohassel P, Nguyen C, Stenzel W, Schara-Schmidt U, Preuße C, Roos A. New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1. Genes (Basel). 2022 May 13(5):893. [doi: 10.3390/genes13050893; PMID: 35627278]

Koutsoulidou A, Koutalianos D, Georgiou K, Kakouri AC, Oulas A, Tomazou M, Kyriakides TC, Roos A, Papadimas GK, Papadopoulos C, Kararizou E, Spyrou GM, Zamba Papanicolaou E, Lochmüller H, Phylactou LA. Serum miRNAs as biomarkers for the rare types of muscular dystrophy. Neuromuscul Disord. 2022 Apr 32(4):332-346. [doi: 10.1016/j.nmd.2022.03.003; PMID: 35393236]

Gangfuß A, Hentschel A, Rademacher N, Sickmann A, Stüve B, Horvath R, Gross C, Kohlschmidt N, Förster F, Abicht A, Schänzer A, Schara-Schmidt U, Roos A, Della Marina A. Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease. Hum Mutat. 2022 Apr 43(4):477-486. [doi: 10.1002/humu.24338; PMID: 35112411]

Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R. NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. Brain. 2022 Feb 10:awac055. [doi: 10.1093/brain/awac055; PMID: 35148379]

Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A*, Hiz S*. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. Orphanet J Rare Dis. 2022 Jan 17(1):29. [doi: 10.1186/s13023-021-02068-w; PMID: 35101074]

Gangfuß A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A, O'Heir E, Lochmüller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kölbel H, Christiansen J, Schara-Schmidt U, Roos A. Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. J Pathol. 2022 Jan 256(1):93-107. [doi: 10.1002/path.5812; PMID: 34599609]

Kakouri AC, Koutalianos D, Koutsoulidou A, Oulas A, Tomazou M, Nikolenko N, Turner C, Roos A, Lusakowska A, Janiszewska K, Papadimas GK, Papadopoulos C, Kararizou E, Papanicolaou EZ, Gorman G, Lochmüller H, Spyrou GM, Phylactou LA. Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights. RNA Biol. 2022 Jan 19(1):507-518. [doi: 10.1080/15476286.2022.2058817; PMID: 3538874]

Della Marina A, Arlt A, Schara-Schmidt U, Depienne C, Gangfuß A, Kölbel H, Sickmann A, Freier E, Kohlschmidt N, Hentschel A, Weis J, Czech A, Grüneboom A, Roos A. Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3. Cells. 2021 Dec 10(12):3481. [doi: 10.3390/cells10123481; PMID: 34943989]

Regensburger AP, Wagner AL, Danko V, Jüngert J, Federle A, Klett D, Schuessler S, Buehler A, Neurath MF, Roos A, Lochmüller H, Woelfle J, Trollmann R, Waldner MJ, Knieling F. Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients. Photoacoustics. 2021 Nov 25:100315. [doi: 10.1016/j.pacs.2021.100315; PMID: 34849338]

Polavarapu K, Mathur A, Joshi A, Nashi S, Preethish-Kumar V, Bardhan M, Sharma P, Parveen S, Seth M, Vengalil S, Chawla T, Shingavi L, Shamim U, Nayak S, Vivekanand A, Töpf A, Roos A, Horvath R, Lochmüller H, Nandeesh B, Arunachal G, Nalini A, Faruq M. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. Neurogenetics. 2021 Oct 22(4):271-285. [doi: 10.1007/s10048-021-00658-1; PMID: 34333724]

Jennings MJ, Hathazi D, Nguyen CDL, Munro B, Münchberg U, Ahrends R, Schenck A, Eidhof I, Freier E, Synofzik M, Horvath R, Roos A. Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3. Front Cell Dev Biol. 2021 Oct 6;9:710247. [doi: 10.3389/fcell.2021.710247; PMID: 34692675]

Saffari A, Cannet C, Blaschek A, Hahn A, Hoffmann GF, Johannsen J, Kirsten R, Kockaya M, Kölker S, Müller-Felber W, Roos A, Schäfer H, Schara U, Spraul M, Trefz FK, Vill K, Wick W, Weiler M, Okun JG, Ziegler A. 1 H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy. Orphanet J Rare Dis. 2021 Oct 20;16(1):441. [doi: 10.1186/s13023-021-02075-x; PMID: 34670613]

Gangfuss A, Schara-Schmidt U, Roos A. Genomik und Proteomik in der Erforschung neuromuskulärer Erkrankungen. Nervenarzt. 2021 Oct 7. [doi: 10.1007/s00115-021-01201-1; PMID: 34622318]

Kölbel H, Preusse C, Brand L, van Moers A, Della marina A, Schuelke M, Roos A, Goebel HH, Schara-Schmidt U, Stenzel W. Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages. Neuropathol Appl Neurobiol. 2021 Oct;47(6):856-866. [doi: 10.1111/nan.12730; PMID: 33973272]

Töpf A, Pyle A, Griffin H, Matalonga L, Schon K, Solve RD SNV indel working group, Solve-RD DITF-euroNMD, Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kölbel H, Roos A*, Horvath R.*. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021 Sep;29(9):1348-1353. [doi: 10.1038/s41431-021-00851-8; PMID: 34075209]

Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmüller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G, Roos A. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain. 2021 Sep 4;144(8):2427-2442. [doi: 10.1093/brain/awab133; PMID: 33792664]

Braun F*, Hentschel A, Sickmann A, Marteau T, Hertel S, Förster F, Prokisch H, Wagner M, Wortmann S, Della Marina A, Kölbel H, Roos A, Schara-Schmidt U. Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS. Int J Mol Sci. 2021 Jul 22;22(15):7835. [doi: 10.3390/ijms22157835; PMID: 34360601]

Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Nat Med. 2021 Jul;27(7):1197-1204. [doi: 10.1038/s41591-021-01346-1; PMID: 34059824]

Sicking M, Lang S, Bochen F, Roos A, Drenth JPH, Zakaria M, Zimmermann R, Linxweiler M. Complexity and Specificity of Sec61-Channelopathies: Human Diseases Affecting Gating of the Sec61 Complex. Cells. 2021 Apr 27;10(5):1036. [doi: 10.3390/cells1005103; PMID: 33925740]

Straka T, Schröder C, Roos A, Kollipara L, Sickmann A, Williams MPI, Mathias Hafner, Khan MM, Rudolf R. Regulatory function of sympathetic innervation on the endo/lysosomal trafficking of acetylcholine receptor. Front Physiol. 2021 Mar 11;12:626707. [doi: 10.3389/fphys.2021.626707; PMID: 33776791]

Grande V, Hathazi D, O´Connor E, Schara-Schmidt U, Hentschel A, Nikolenko N, Lochmüller H, Roos A. Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients. J Neuromuscul Dis. 2021 Mar 1. [doi: 10.3233/JND-200558; PMID: 33682722]

Vogt G, El Choubassi N, Herczegfalvi A, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa; J Inherit Metab Dis. 2020 Dec 15. [doi: 10.1002/jimd.12341; PMID: 33320377]

Della Marina A, Wibbeler E, Abicht A, Kölbel H, Lochmüller H, Roos A, Schara U. Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study. Front Hum Neurosci. 2020 Dec 7;14:560860. [doi: 10.3389/fnhum.2020.560860; PMID: 33364925]

Spendiff S, Howarth R, McMacken G, Davey T, Quinlan K, O’Connor E, Slater C, Hettwer S, Mäder A, Roos A, Horvath R, Lochmüller H. Modulation of AChR clustering pathway improves neuromuscular junction structure and muscle strength in a mouse model of congenital myasthenic syndrome; Front Mol Neurosci. 2020 Dec 17;13:594220. [doi: 10.3389/fnmol.2020.594220; PMID: 33390901]

Gungor S, Oktay Y, Hiz S, Aranguren-Ibáñez Á, Kalafatcilar I, Yaramis A, Karaca E, Yis U, Sonmezler E, Ekinci B, Aslan M, Yilmaz E, Özgör B, Balaraju S, Szabo N, Laurie S, Beltran S, MacArthur DG, Hathazi D, Töpf A, Roos A*, Lochmuller H*, Vernos I*, Horvath R*. Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease; iScience. 2020 Dec 30;24(1):101948. [doi: 10.1016/j.isci.2020.101948; PMID: 33458610]

Hentschel A, Czech A, Münchberg U, Freier E, Reimann J, Roos A. Protein Signature of Human Skin Fibroblasts Allows the Study of the Molecular Etiology of Rare Neurological Diseases; Orphanet J Rare Dis. 2021 Feb 9;16(1):73. [doi: 10.1186/s13023-020-01669-1; PMID: 33563298]

Kohlschmidt N, Elbracht M, Czech A, Häusler M, Phan V, Töpf A, Huang KT, Bartok A, Eggermann K, Zippel S, Eggermann T, Freier E, Groß C, Lochmüller H, Horvath R, Hajnóczky G, Weis J, Roos A. Molecular pathophysiology of human MICU1-deficiency; Neuropathol Appl Neurobiol. 2020. Online ahead of print. [doi: 10.1111/nan.12694; PMID: 33428302]

Mroczek M, Zafeiriou D, Gianetti JG, Roos A, Töpf A, Bartels E, Kohlschmidt N, Phadke R, Feng L, Duff J, Straub V. Three individuals with PURA syndrome in a cohort of patients with neuromuscular disease; Neuropediatrics 2020; Online ahead of print. [doi: 10.1055/s-0040-1715625; PMID: 33352606]

Griffin H, Hathazi D, Jennings M, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RDS, Hanna MG, Joost K, da Silva Cotta AV, Paim JF, Machado Navarro M, Duff J, Mattmann A, Chapman K, Servidei S, Uusimaa J, Roos A, Mootha V, Hirano M, Mulinius M, Giri M, Hoffmann EP, Lochmüller H, DiMauro S, Minczuk M, Chinnery PF, Müller JS, Horvath R. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency; EMBO J. 2020 Dec 1;39(23):e105364. [doi: 10.15252/embj.2020105364; PMID: 33128823]

Gangfuß A, Schmitt D, Roos A, Braun F, Annoussamy M, Servais L, Schara-Schmidt U. Diagnosing X-linked myotubular myopathy – a German 20-year follow up experience; J Neuromuscul Dis. 2021;8(1):79-90. [doi: 10.3233/JND-200539; PMID: 33164942]

Annoussamy M, Beggs A, Bönnemann C, Colquhoun S, Darin N, Doorduin J, Dziewczapolski G, Evangelista T, Ferreiro A, Michael E, Moreno C, Munell F, Park C, Roos A, Sarkozy A, Schara U, Servais L, Tasca G, Voermans N, Wallgren-Pettersson C. 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands; Neuromuscul Disord. 2020 Aug 15;S0960-8966(20)30553-8. [doi: 10.1016/j.nmd.2020.08.356; PMID: 32919842]

Paul L, Rupprich K, Della Marina A, Stein A, Elgizouli M, Kaiser FJ, Schweiger B, Köninger A, Iannaccone A, Hehr U, Kölbel H, Roos A, Schara-Schmidt U, Kuechler A. Further evidence for POMK as candidate gene for WWS with meningoencephalocele; Orphanet J Rare Dis. 2020 Sep 9;15(1):242. [doi: 10.1186/s13023-020-01454-0; PMID: 32907597]

Thompson R, Spendiff S, Roos A, Bourque PR, Warman Chardon J, Kirschner J, Horvath R, Lochmüller H. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development; Lancet Neurol. 2020 Jun;19(6):522-532. [doi: 10.1016/S1474-4422(20)30028-4; PMID: 32470424]

Kölbel H, Roos A, van der Ven P F M, Evangelista T, Nolte K, Johnson K, Töpf A, Wilson M, Kress W, Sickmann A, Straub V, Kollipara L, Weis J, Fürst D O, Schara U. First Clinical and Myopathological Description of a Myofibrillar Myopathy With Congenital Onset and Homozygous Mutation in FLNC; Hum Mutat. 2020 Jun 9. Online ahead of print. [doi: 10.1002/humu.24062; PMID: 32516863]

Strandberg K, Ayoglu B, Roos A, Reza M, Niks E, Signorelli M, Fasterius E, Pontén F, Lochmüller H, Domingos J, Ala P, Muntoni F, Aartsma-Rus A, Spitali P, Nilsson P, Al-Khalili Szigyarto C. Blood-derived Biomarkers Correlate With Clinical Progression in Duchenne Muscular Dystrophy; J Neuromuscul Dis. 2020;7(3):231-246. [doi: 10.3233/JND-190454, PMID: 32390640]

Töpf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Güngör S, Lochmüller H, Hiz S, Horvath R. Severe neurodevelopmental disease caused by a homozygous TLK2 variant; Eur J Hum Genet. 2020 Mar;28(3):383-387 [doi: 10.1038/s41431-019-0519-x; PMID:31558842]. [Epub 2019 Sep 26.]

Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators, Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy; Eur J Hum Genet. 2020 Jan 2. (Epub ahead of print) [doi: 10.1038/s41431-019-0563-6; PMID: 31896777]

O'Connor E, Cairns G, Spendiff S, Burns D, Hettwer S, Mäder A, Müller J, Horvath R, Slater C, Roos A, Lochmüller H. Modulation of Agrin and RhoA pathways ameliorates movement defects and synapse morphology in MYO9A-depleted zebrafish; Cells. 2019 Aug 7;8(8). pii: E848. [doi: 10.3390/cells8080848; PMID: 31394789]

Mingirulli N*, Pyle A*, Hathazi D, Charlotte L. A, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García‐Cazorla A, Gross C, O'Callaghan M, Santra S, Maryanne A. P, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez‐Mallebrera C, Robert W. T, Artuch R, Kirschner J, Sarah C. G, Roos A*, Horvath R. Clinical presentation and proteomic signature of patients with TANGO2 mutations; J Inherit Metab Dis. 2019 Jul 24 [doi: 10.1002/jimd.12156; PMID: 31339582]

Gatz C, Hathazi D, Münchberg U, Buchkremer S, Labisch T, Munro B, Horvath R, Töpf A, Weis J, Roos A. Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome; Front Neurol. 2019 Jun 14;10:562. [doi: 10.3389/fneur.2019.00562; PMID: 31258504]

Mnatsakanyan R, Markoutsa S, Walbrunn K, Roos A, Verhelst SHL, Zahedi RP. Proteome-wide detection of S-nitrosylation targets and motifs using bioorthogonal cleavable-linker-based enrichment and switch technique; Nat Commun. 2019 May 16;10(1):2195. [doi: 10.1038/s41467-019-10182-4; PMID: 31097712]

Roos A*, Preusse C*, Hathazi D, Goebel H-H, Stenzel W. Proteomic Profiling Unravels a Key Role of Specific Macrophage Subtypes in Sporadic Inclusion Body Myositis; Front Immunol. 2019 May 9;10:1040. [doi: 10.3389/fimmu.2019.01040; PMID: 31143183]

Kölbel H, Hathazi D, Jennings M, Horvath R, Roos A*, Schara U*. Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients; Front Neurol. 2019 May 7;10:470. [doi: 10.3389/fneur.2019.00470; PMID: 31133972]

Cipriani S, Phan V, Médard Jean-Jacques, Horvath R, Lochmüller H, Chrast R, Roos A*, Spendiff S*. Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C; Int. J. Mol. Sci. 2018 19(12), 4072. [doi: 10.3390/ijms19124072; PMID: 30562927]

Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human; Neurobiol Dis. 2018 Nov 20;124:218-229. [doi: 10.1016/j.nbd.2018.11.019; PMID: 30468864]

ENMC workshop study group: Ben-Zvi A, Blaettler T, Bryson-Richardson R, Carra S, Dimachkie M, Findlay A, Greensmith L, Greenspan S, Hanna M, Höhfled J, Jonson PH, Kampinga H, Larsson L, Linke W, Lynch G, Machado P, Orlando L, Richard I, Roos A, Sarparanta J, Timmerman V, Udd B, Weihl C, Zah L. 234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017. Neuromuscul Disord. 2018 Sep 25. pii: S0960-8966(18)31200-8. [doi: 10.1016/j.nmd.2018.09.004; PMID: 30424919]

Coenen-Stass AML, Sork H, Gatto S, Godfrey C, Bhomra A, Krjutškov K, Hart JR, Westholm JO, O'Donovan L, Roos A, Lochmüller H, Puri PL, El Andaloussi S, Wood MJA, Roberts TC. Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD; Mol Ther Nucleic Acids. 2018 Aug 17;13:1-15. [doi: 10.1016/j.omtn.2018.08.005; PMID: 30219269]

González Coraspe JA, Weis J, Anderson ME, Münchberg U, Lorenz K, Buchkremer S, Carr S, Zahedi RP, Brauers E, Michels H, Sunada Y, Lochmüller H, Campbell KP, Freier E, Hathazi D*, Roos A*. Biochemical and pathological changes result from mutated Caveolin-3 in muscle. Skeletal Muscle 2018 Aug 28;8(1):28. [doi: 10.1186/s13395-018-0173-y; PMID: 30153853]

Phan V, Schmidt J, Matyash V, Malchow S, Thanisch M, Lorenz C, Diepolder I, Schulz JB, Stenzel W, Roos A*, Gess B*. Characterization of naïve and Vitamin C-treated mouse Schwann cell line MSC80: induction of the anti-oxidative Thioredoxin Related Transmembrane Protein 1. Journal of Proteome Research. 2018 Aug 10. Epub ahead of print. [doi: 10.1021/acs.jproteome.8b00022; PMID: 30044099]

Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H. GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. [doi: 10.1093/hmg/ddy225; PMID: 29905857]

Ladislau L, Suárez-Calvet X, Toquet S, Amelin D, Landon-Cardinal O, Depp M, Rodero M, Hathazi D, Duffy D, Bondet V, Preuße C, Rozenberg F, Roos A, Benjamim C, Gallardo E, Illa I, Mouly V, Stenzel W, Butler-Browne GS, Benveniste O, Allenbach Y. JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis. Brain. 2018 Jun 1;141(6):1609-1621. [doi: 10.1093/brain/awy105; PMID: 29741608]

O'Connor E, Phan V, Cordts I, Cairns G, Hettwer S, Cox D, Lochmüller H, Roos A. MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion. Hum Mol Genet. 2018 Apr 15;27(8):1434-1446. [doi: 10.1093/hmg/ddy054; PMID: 29462312]

McMacken G, Cox D, Roos A, Müller J, Whittaker R, Lochmüller H. The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes. Hum Mol Genet. 2018 May 1;27(9):1556-1564. [doi: 10.1093/hmg/ddy062; PMID: 29462491]

Bansagi B, Phan V, O'Sullivan J, Mueller J, Duff J, Miller J, Gorman G, Roos A, Swan L, Horvath R. Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. Neurology. 2018 May 22;90(21):e1842-e1848. [10.1212/WNL.0000000000005566; PMID: 29720545]

Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, Horvath R, Pareyson D, Timmerman V. PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. [doi: 10.1136/jnnp-2017-317562.; PMID: 29449460]

Saridaki T, Nippold M, Dinter E, Roos A, Diederichs L, Fensky L, Schulz JB, Falkenburger BH. FYCO1 mediates clearance of α-synuclein aggregates through a Rab7 dependant mechanism. J Neurochem. 2018 Aug;146(4):474-492. [doi: 10.1111/jnc.14461; PMID: 29747217]

Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R. Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons. Hum Mol Genet. 2018 Jun 15;27(12):2187-2204. [doi: 10.1093/hmg/ddy127; PMID: 29648643]

Spitali P, Hettne K, Tsonaka R, Charrout M, van den Bergen J, Koeks Z, Kan HE, Hooijmans MT, Roos A, Straub V, Muntoni F, Al-Khalili-Szigyarto C, Koel-Simmelink MJA, Teunissen CE, Lochmüller H, Niks EH, Aartsma-Rus A. Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies; J Cachexia Sarcopenia Muscle. 2018 Aug;9(4):715-726. [doi: 10.1002/jcsm.12304; PMID: 29682908]

Labisch T, Buchkremer S, Phan V, Kollipara L, Gatz C, Lentz C, Nolte K, Vervoorts J, Coraspe JA, Sickmann A, Carr S, Zahedi RP, Weis J, Roos A. Tracking Effects of SIL1 Increase: Taking a Closer Look Beyond the Consequences of Elevated Expression Level. Mol Neurobiol. 2018 Mar;55(3):2524-2546. [doi: 10.1007/s12035-017-0494-6; PMID: 28401474].

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Genetics in Medicine. 2018 Mar 8. Epub ahead of print. [doi: 10.1038/gim.2017.251; PMID: 29517768]

Gonczarowska-Jorge H, Loroch S, Dell'Aica M, Sickmann A, Roos A, Zahedi RP. Quantifying Missing (Phospho)Proteome Regions with the Broad-Specificity Protease Subtilisin. Anal Chem. 2017 Dec 19;89(24):13137-13145. [doi: 10.1021/acs.analchem.7b02395; PMID: 29136377]

Kollipara L, Buchkremer S, González Coraspe JA, Hathazi D, Senderek J, Weis J, Zahedi RP, Roos A. In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome. Oncotarget. 2017 Sep 15; 8(40): 68493–68516. [doi: 10.18632/oncotarget.19663; PMID: 28978133]

Reza M, Cox D, Phillips L, Johnson D, Manoharan V, Grieves M, Davis B, Roos A, Morgan J, Hanna MG, Muntoni F, Lochmüller H. MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscul Disord. 2017 Nov;27(11):1054-1064. [doi: 10.1016/j.nmd.2017.07.001; PMID: 28864117]

Dreser A, Vollrath JT, Sechi A, Johann S, Roos A, Yamoah A, Katona I, Bohlega S, Wiemuth D, Tian Y, Schmidt A, Vervoorts J, Dohmen M, Beyer C, Anink J, Aronica E, Troost D, Weis J, Goswami A. The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins. Cell Death Differ. 2017 Oct;24(10):1655-1671. [doi: 10.1038/cdd.2017.88; PMID: 28622300]

Wiessner M*, Roos A*, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. Am J Hum Genet. 2017 Mar 2;100(3):523-536. [doi: 10.1016/j.ajhg.2017.01.024; PMID: 28190456]

Brauers E*, Roos A*, Kollipara L, Zahedi RP, Beckmann A, Mohanadas N, Bauer H, Häusler M, Thoma S, Kress W, Senderek J, Weis J. The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis. Proteomics Clin Appl. 2017 Jan;11(1-2). [doi: 10.1002/prca.201600007; PMID: 27739254]

Reza M, Laval SH, Roos A, Carr S, Lochmüller H. Optimization of Internally Deleted Dystrophin Construct.; Hum Gene Ther Methods. 2016 Oct;27(5):174-186. [doi: 10.1089/hgtb.2016.026; PMID: 27477497]

Buchkremer S, González Coraspe JA, Weis J, Roos A. Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders. J Neuromuscul Dis. 2016 May 27;3(2):169-181. [doi: 10.3233/JND-160152; PMID: 27854219]

Kollipara L, Buchkremer S, Weis J, Brauers E, Hoss M, Rütten S, Caviedes P, Zahedi RP, Roos A. Proteome Profiling and Ultrastructural Characterization of the Human RCMH Cell Line: Myoblastic Properties and Suitability for Myopathological Studies. J Proteome Res. 2016 Mar 4;15(3):945-55. doi: 10.1021/acs.jproteome.5b00972. [doi: 10.1021/acs.jproteome.5b00972; PMID: 26781476]

Roos A, Kollipara L, Buchkremer S, Labisch T, Brauers E, Gatz C, Lentz C, Gerardo-Nava J, Weis J, Zahedi RP. Proteomic signature of SIL1 depletion: disease pathogenesis due to alterations in protein composition beyond the ER-machinery. Mol Neurobiol. 2016 Oct;53(8):5527-41. [doi: 10.1007/s12035-015-9456-z; PMID: 26468156].

Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J. Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. J Peripher Nerv Syst. 2015 Mar;20(1):52-9. [doi: 10.1111/jns.12106; PMID: 25676889]

Filézac de L'Etang A, Maharjan N, Cordeiro Braña M, Ruegsegger C, Rehmann R, Goswami A, Roos A, Troost D, Schneider BL, Weis J, Saxena S. Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS. Nat Neurosci. 2015 Feb;18(2):227-38. [doi: 10.1038/nn.3903; PMID: 25559081]

Reifenberger G, Malzkorn B, Acker T, Bettstetter M, Buslei R, von Deimling A, Dietmaier W, Dubbink HJ, Eigenbrod S, Garvalov BK, Gerstenmaier U, Giese A, Haase D, Hasselblatt M, Kirches E, Koch A, Marienfeld R, Mittelbronn M, Montesinos-Rongen M, Pagenstecher A, Riemenschneider MJ, Prinz M, Romeike B, Roos A, Spiegl-Kreinecker S, Schittenhelm J, Schlegel J, Thal DR, Tops BB, Weis J, Westphal G, Worm K, Felsberg J. Results of the international interlaboratory comparison of MGMT promoter methylation analysis involving twenty-three academic centers in Germany, Austria and the Netherlands. Neuro Oncol. 2014 Jul; 16(Suppl 3): iii49–iii50. [doi: 10.1093/neuonc/nou209.30; PMID: 4144645]

Elbracht M, Senderek J, Schara U, Nolte K, Klopstock T, Roos A, Reimann J, Zerres K, Weis J, Rudnik-Schöneborn S. Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie-Tooth disease type 2E. Clin Neuropathol. 2014 Sep-Oct;33(5):335-43. [doi: 10.5414/NP300742; PMID: 24887401]

Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schröder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J. Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology. Acta Neuropathol. 2014 May;127(5):761-77. [doi: 10.1007/s00401-013-1224-4; PMID: 24362440]

Roos A, von Kaisenberg CS, Eggermann T, Schwanitz G, Löffler C, Weise A, Mrasek K, Junge A, Caliebe A, Belitz B, Kautza M, Schüler H, Zerres K, Heidemann S. Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies. Arch Gynecol Obstet. 2013 Nov;288(5):1153-8. [doi: 10.1007/s00404-013-2861-5; PMID: 23677416]

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain. 2013 Dec;136(Pt 12):3634-44. [doi: 10.1093/brain/awt283; PMID: 24176978]

Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet. 2013 Oct 15;22(20):4224-32. [doi: 10.1093/hmg/ddt274; PMID: 23777631]

Prause J, Goswami A, Katona I, Roos A, Schnizler M, Bushuven E, Dreier A, Buchkremer S, Johann S, Beyer C, Deschauer M, Troost D, Weis J. Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis. Hum Mol Genet. 2013 Apr 15;22(8):1581-600. [doi: 10.1093/hmg/ddt008; PMID: 23314020]

Roos A, Schwanitz G, Diepolder I, Senderek J, Eggermann K. Search for cryptic subtelomeric aberrations in patients with non-classical Marinesco-Sjögren phenotype; Journal of Pediatric Neurology. 2012 Mar 21;10(3):167-172. [doi: 10.3233/JPN-2012-0557]

Brauers E, Dreier A, Roos A, Weis J, Krüttgen A. Differential effects of myopathy-associated caveolin-3 mutants on growth factor signalling. Am J Pathol. 2010 Jul;177(1):261-70. [doi: 10.2353/ajpath.2010.090741; PMID: 20472890]

Stendel C*, Roos A*, Kleine H, Arnaud E, Özçelik M, Sidiropoulos P, Zenker J, Schüpfer F, Lehmann U, Sobota RM, Litchfield DW, Lüscher B, Chrast R, Suter U, Senderek J. SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. Brain. 2010 Aug;133(Pt 8):2462-74. [doi: 10.1093/brain/awq168; PMID: 20826437]

Arnaud E, Zenker J, de Preux Charles A-S, Stendel C, Roos A, Médard J-J, Tricaud N, Weis J, Suter U, Senderek J, Chrast R. SH3TC2 protein that is mutated in CMT4C disease is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17528-33. [doi: 10.1073/pnas.0905523106; PMID: 19805030]

Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Autosomal dominat distal myopathy associated with recurrent missense mutation in the gene encoding the nuclear protein, matrin 3. Am J Hum Genet. 2009 Apr;84(4):511-8. [doi: 10.1016/j.ajhg.2009.03.006; 19344878]

Roos A, Eggermann T, Zschiesche S, Midro A, Schwanitz G. Abnormalities in tooth morphology, structure and dentition in two children with chromosome aberrations. Translocation trisomy 13 and trisomy 21. Adv Med Sci. 2008;53(1):17-20. [doi: 10.2478/v10039-008-0012-1; PMID: 18614442]

Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, Frabin/FGD4. Am J Hum Genet. 2007 Jul;81(1):158-64. [doi: 10.1086/518770; PMID: 17564972]

Schönherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. J Med Genet. 2007 Jan;44(1):59-63. [doi: 10.1136/jmg.2006.044370; PMID: 16963484]

* Publications with shared first- or last-authorship

II. Case reports

Gangfuß A, Lochmüller H, Töpf A, O'Heir E, Horvath R, Kölbel H, Schweiger B, Schara-Schmidt U, Roos A. A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. Am J Med Genet A. 2022 Jan;188(1):283-291. Epub 2021 Sep 14. [doi: 10.1002/ajmg.a.62494; PMID: 34519148]

Della Marina A, Pawlitzki M, Ruck T, Van Baalen A, Vogt N, Schweiger B, Hertel S, Kölbel H, Wiendl H, Preuße C, Roos A, Schara-Schmidt U. Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy. Children (Basel). 2021 Aug 24;8(9):721. [doi: 10.3390/children8090721; PMID: 34572153]

Braun F, Gangfuß A, Stöbe P, Haack TB, Schweiger B, Roos A, Schara. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process. Mol Genet Genomic Med. 2021 Jul 20:e1767. [doi: 10.1002/mgg3.1767; PMID:  34288564]

Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A. Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. Am J Med Genet A. 2021 Jan 11. [doi: 10.1002/ajmg.a.62070; PMID: 33427397]

Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H. Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes. Neurology Genetics. 2017 Jun; 3(3): e152. [doi: 10.1212/NXG.0000000000000152; PMCID: PMC5415388]

Reimann J, Kohlschmidt N, Tolksdorf K, Weis J, Kuchelmeister K, Roos A. Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome. J Neuropathol Exp Neurol. 2017 May 1;76(5):337-341. [doi: 10.1093/jnen/nlx016 PMID: 28371804].

Jauhari P, Sahu JK, Singhi P, Vyas S, Roos A, Senderek J. SIL1 Negative Marinesco-Sjӧgren syndrome: First report of two sibs from India. J Pediatr Neurosci. 2014 Sep-Dec;9(3):291-2. [doi: 10.4103/1817-1745.147597; PMID: 25624944]

Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG. Novel TPM3 mutation in a family with cap myopathy and review of the literature. Neuromuscul Disord. 2014 Feb;24(2):117-24. [doi: 10.1016/j.nmd.2013.10.002; PMID: 24239060]

Schreckenbach T, Henn W, Kress W, Roos A, Maschke M, Feiden W, Dillmann U, Schulz JB, Weis J, Claeys KG. Novel FHL1 mutation in a family with reducing body myopathy. Muscle Nerve. 2013 Jan;47(1):127-34. [doi: 10.1002/mus.23500; PMID: 23169582]

Roos A, Tonnies H, Goecke T, Haaf T, Baudis M, Spengler S, Eggermann T, Schueler H. First case of a constitutional intrachromosomal triplication 1q43→q44: molecular- and cytogentic investigations and characterization of the phenotype. Chromosome Res 17 (2009) 48-49.

Elbracht M, Roos A, Schönherr N, Busse, S, Damen R, Zerres KP, Rudnik-Schöneborn S, Schüler HM. Pure Distal Trisomy 2q: A Rare Chromosomal Abnormality with Recognizable Phenotype. Am J Med Genet A. 2009 Nov;149A(11):2547-50. [doi: 10.1002/ajmg.a.33086; PMID: 19876899]

Roos A, Elbracht M, Baudis M, Senderek J, Schönherr N, Eggermann. T, Schüler HM. A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant. Am J Med Genet A. 2008 Sep 15;146A(18):2417-20. [doi: 10.1002/ajmg.a.3246; PMID: 18698619]

Roos A, Eggermann T, Zerres K, Schüler HM. Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q. Am J Med Genet A. 2008 Mar 15;146A(6):795-8. [doi: 10.1002/ajmg.a.32222; PMID: 18257101]

Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH. Eur J Med Genet. 2006 Nov-Dec;49(6):505-10. [doi: 10.1016/j.ejmg.2006.06.002; PMID: 16905374]

III. Reviews

Christiansen J, Güttsches AK, Schara-Schmidt U, Vorgerd M, Heute C, Preusse C, Stenzel W, Roos A. ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies. Genes Dis. 2022 Feb 14;9(6):1506-1520. [doi: 10.1016/j.gendis.2022.01.001. eCollection 2022 Nov. PMID: 36157496]

Jabbarli R, Pierscianek D, Darkwah Oppong M, Sato T, Dammann P, Wrede KH, Kaier K, Köhrmann M, Forsting M, Kleinschnitz C, Roos A, Sure U. Laboratory biomarkers of delayed cerebral ischemia after subarachnoid hemorrhage: a systematic review; Neurosurg Rev. 2018 Oct 10. Epub ahead of print [doi: 10.1007/s10143-018-1037-y; PMID: 30306357]

Pogoryelova O, Gonzalez Coraspe JA, Nikolenko N, Lochmüller H, Roos A. GNE myopathy: from clinics and genetics to pathology and research strategies. Orphanet J Rare Dis. 2018 May 2;13(1):70. [doi: 10.1186/s13023-018-0802-x; PMID: 29720219]

O´Connor E, Topf A, Zahedi R, Spendiff S, Cox D, Roos A, Lochmüller H. Clinical and research strategies for limb-girdle congenital myasthenic syndromes. Ann N Y Acad Sci. 2018 Jan;1412(1):102-112. [doi: 10.1111/nyas.13520; PMID: 29315608]

Carr SJ, Zahedi RP, Lochmüller H, Roos A. Mass-Spectrometry based protein analytics to unravel the tissue pathophysiology in Duchenne Muscular Dystrophy. Proteomics Clin Appl. 2018 Mar;12(2). [doi: 10.1002/prca.201700071; PMID: 28631898]

Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J. Towards a functional pathology of hereditary neuropathies. Acta Neuropathol. 2017 Apr;133(4):493-515 [doi: 10.1007/s00401-016-1645-y; PMID: 27896434]

IV. Book chapters

Roos A, Hathazi D, Schara U. Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases; Methods Mol Biol. 2020; 2169:197-216. [doi: 10.1007/978-1-0716-0732-9_18; PMID: 32548831]

Weis J, Roos A, Katona I, Senderek J. Dominant and recessive intermediate CMT (CMTDI and CMTRI). Published in: Causes of Neuropathies; The International Society of Neuropathology (2014)

Roos A, Brauers E, Buchkremer S, Spengler S, Schüler HM, Schwanitz G. Subtelomeric endings - chromosomal regions with a high diagnostic impact in mental retardation syndromes: insights from the past two decades, taking a closer look at chromosome tips. Published in: Intellectual Disability: Management, Causes and Social Perceptions; Nova Publishers (2011).

V. Letters to the editor

Roos A, Thompson R, Horvath R, Lochmüller H, Sickmann A. Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases. Proteomics Clin Appl. 2018 Mar;12(2). [doi: 10.1002/prca.201700073; PMID: 29059504]

Roos A, Schara U, Applied proteomics toward an improved understanding of the genesis of neuropediatric diseases [article in german language] in Neuropaediatrie 2020; 19: S. 26–34, Schmidt-Roemhild-Verlag, Luebeck, Germany; ISSN: 1619-3873; [NLM ID 101166293; OCoLc 53801270].