Andreas  Roos (PhD)
Translational Research in Neuromuscular Disorders

Publication List


I. Original articles

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 Constructs; 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

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

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

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]