You can find our most recent publications here – both those coming out of the Lochmüller lab directly and those in collaboration with other research groups. Click the View on PubMed link to view more.
View on PubMed

Balaraju, S, Töpf, A, McMacken, G, Kumar, VP, Pechmann, A, Roper, H et al.. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. Eur. J. Hum. Genet. 2019. PMID:31527857

Wood, L, Bassez, G, Bleyenheuft, C, Campbell, C, Cossette, L, Jimenez-Moreno, AC et al.. Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis. 2019.14 (1)199 PMID:31416449

Jimenez-Moreno, AC, Nikolenko, N, Kierkegaard, M, Blain, AP, Newman, J, Massey, C et al.. Analysis of the functional capacity outcome measures for myotonic dystrophy. Ann Clin Transl Neurol. 2019.6 (8)1487-1497 PMID:31402614

Cumming, SA, Jimenez-Moreno, C, Okkersen, K, Wenninger, S, Daidj, F, Hogarth, F et al.. Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. Neurology. 2019.93 (10)e995-e1009 PMID:31395669

O'Connor, E, Cairns, G, Spendiff, S, Burns, D, Hettwer, S, Mäder, A et al.. Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish. Cells. 2019.8 (8) PMID:31394789

Sonjak, V, Jacob, K, Morais, JA, Rivera-Zengotita, M, Spendiff, S, Spake, C et al.. Fidelity of muscle fibre reinnervation modulates ageing muscle impact in elderly women. J. Physiol. (Lond.). 2019. PMID:31368533

König, K, Pechmann, A, Thiele, S, Walter, MC, Schorling, D, Tassoni, A et al.. De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany. Orphanet J Rare Dis. 2019.14 (1)152 PMID:31234869

Thompson, R, Papakonstantinou Ntalis, A, Beltran, S, Töpf, A, de Paula Estephan, E, Polavarapu, K et al.. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Hum. Mutat. 2019. PMID:31231902

Yiş, U, Hiz, S, Güneş, S, Diniz, G, Baydan, F, Töpf, A et al.. Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family. J Neuromuscul Dis. 2019.6 (3)377-384 PMID:31227654

McMacken, GM, Spendiff, S, Whittaker, RG, O'Connor, E, Howarth, RM, Boczonadi, V et al.. Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome. Hum. Mol. Genet. 2019.28 (14)2339-2351 PMID:31220253

Ambrosini, A, Quinlivan, R, Sansone, VA, Meijer, I, Schrijvers, G, Tibben, A et al.. "Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease. Orphanet J Rare Dis. 2019.14 (1)126 PMID:31174585

Rodríguez Cruz, PM, Cossins, J, Estephan, EP, Munell, F, Selby, K, Hirano, M et al.. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain. 2019.142 (6)1547-1560 PMID:31081514

Lochmüller, H, Behin, A, Caraco, Y, Lau, H, Mirabella, M, Tournev, I et al.. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. Neurology. 2019.92 (18)e2109-e2117 PMID:31036580

Boczonadi, V, King, MS, Smith, AC, Olahova, M, Bansagi, B, Roos, A et al.. Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Genet. Med. 2019.21 (9)2163-2164 PMID:31028354

Dominov, JA, Uyan, Ö, McKenna-Yasek, D, Nallamilli, BRR, Kergourlay, V, Bartoli, M et al.. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Ann Clin Transl Neurol. 2019.6 (4)642-654 PMID:31019989

Landfeldt, E, Edström, J, Sejersen, T, Tulinius, M, Lochmüller, H, Kirschner, J et al.. Quality of life of patients with spinal muscular atrophy: A systematic review. Eur. J. Paediatr. Neurol. 2019.23 (3)347-356 PMID:30962132

Pogoryelova, O, Urtizberea, JA, Argov, Z, Nishino, I, Lochmüller, H, ENMC workshop study group et al.. 237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018. Neuromuscul. Disord. 2019.29 (5)401-410 PMID:30956020

Landfeldt, E, Lochmüller, H, Lindgren, P. Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy. Orphanet J Rare Dis. 2019.14 (1)75 PMID:30940156

Thompson, R, Bonne, G, Missier, P, Lochmüller, H. Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. Emerg Top Life Sci. 2019.3 (1)19-37 PMID:30931400

Ricci, G, Cammish, P, Siciliano, G, Tupler, R, Lochmuller, H, Evangelista, T et al.. Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Muscle Nerve. 2019.59 (6)711-713 PMID:30895627

Carrera-García, L, Natera-de Benito, D, Dieterich, K, de la Banda, MGG, Felter, A, Inarejos, E et al.. CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. Am. J. Med. Genet. A. 2019.179 (6)915-926 PMID:30868735

Sonjak, V, Jacob, KJ, Spendiff, S, Vuda, M, Perez, A, Miguez, K et al.. Reduced Mitochondrial Content, Elevated ROS, and Modulation by Denervation in Skeletal Muscle of Pre-frail/Frail Elderly Women. J. Gerontol. A Biol. Sci. Med. Sci. 2019. PMID:30855073

Pogoryelova, O, Wilson, IJ, Mansbach, H, Argov, Z, Nishino, I, Lochmüller, H et al.. GNE genotype explains 20% of phenotypic variability in GNE myopathy. Neurol Genet. 2019.5 (1)e308 PMID:30842975

Oury, J, Liu, Y, Töpf, A, Todorovic, S, Hoedt, E, Preethish-Kumar, V et al.. MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. J. Cell Biol. 2019.218 (5)1686-1705 PMID:30842214

Landfeldt, E, Nikolenko, N, Jimenez-Moreno, C, Cumming, S, Monckton, DG, Gorman, G et al.. Disease burden of myotonic dystrophy type 1. J. Neurol. 2019.266 (4)998-1006 PMID:30788616

Dusl, M, Moreno, T, Munell, F, Macaya, A, Gratacòs, M, Abicht, A et al.. Congenital myasthenic syndrome caused by novel COL13A1 mutations. J. Neurol. 2019.266 (5)1107-1112 PMID:30767057

Lochmüller, H, Ambrosini, A, van Engelen, B, Hansson, M, Tibben, A, Breukel, A et al.. The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018. J Neuromuscul Dis. .6 (1)161-172 PMID:30714970

Landfeldt, E, Edström, J, Jimenez-Moreno, C, van Engelen, BGM, Kirschner, J, Lochmüller, H et al.. Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review. Patient. 2019.12 (4)365-373 PMID:30714084

Pechmann, A, König, K, Bernert, G, Schachtrup, K, Schara, U, Schorling, D et al.. SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy. Orphanet J Rare Dis. 2019.14 (1)18 PMID:30665421

Moore, U, Jacobs, M, James, MK, Mayhew, AG, Fernandez-Torron, R, Feng, J et al.. Assessment of disease progression in dysferlinopathy: A 1-year cohort study. Neurology. 2019. PMID:30626655

Cipriani, S, Phan, V, Médard, JJ, Horvath, R, Lochmüller, H, Chrast, R et al.. Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C. Int J Mol Sci. 2018.19 (12) PMID:30562927

Kletzl, H, Marquet, A, Günther, A, Tang, W, Heuberger, J, Groeneveld, GJ et al.. The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy. Neuromuscul. Disord. 2019.29 (1)21-29 PMID:30553700

Thompson, R, Abicht, A, Beeson, D, Engel, AG, Eymard, B, Maxime, E et al.. A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era. Orphanet J Rare Dis. 2018.13 (1)211 PMID:30477555

Köhler, S, Carmody, L, Vasilevsky, N, Jacobsen, JOB, Danis, D, Gourdine, JP et al.. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res. 2019.47 (D1)D1018-D1027 PMID:30476213

Phan, V, Cox, D, Cipriani, S, Spendiff, S, Buchkremer, S, O'Connor, E et al.. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human. Neurobiol. Dis. 2019.124 218-229 PMID:30468864

Silveira, C, Brunton, E, Spendiff, S, Nazarpour, K. Positioning the Nerve Cuff Distally on the Sciatic Nerve Improves the Classification of Ankle-Movement Proprioceptive ENG Signals. Conf Proc IEEE Eng Med Biol Soc. 2018.2018 2430-2433 PMID:30440898

Estephan, EP, Zambon, AA, Marchiori, PE, da Silva, AMS, Caldas, VM, Moreno, CAM et al.. Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. Neuromuscul. Disord. 2018.28 (11)961-964 PMID:30266223

Coenen-Stass, AML, Sork, H, Gatto, S, Godfrey, C, Bhomra, A, Krjutškov, K et al.. Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD. Mol Ther Nucleic Acids. 2018.13 1-15 PMID:30219269

Alrohaif, H, Pogoryelova, O, Al-Ajmi, A, Aljeryan, LA, Alrashidi, NH, Alefasi, SA et al.. GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. Muscle Nerve. 2018.58 (5)700-707 PMID:30192030

Wood, L, Bassez, G, Bleyenheuft, C, Campbell, C, Cossette, L, Jimenez-Moreno, AC et al.. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis. 2018.13 (1)155 PMID:30185236

González Coraspe, JA, Weis, J, Anderson, ME, Münchberg, U, Lorenz, K, Buchkremer, S et al.. Biochemical and pathological changes result from mutated Caveolin-3 in muscle. Skelet Muscle. 2018.8 (1)28 PMID:30153853

Kodra, Y, Weinbach, J, Posada-de-la-Paz, M, Coi, A, Lemonnier, SL, van Enckevort, D et al.. Recommendations for Improving the Quality of Rare Disease Registries. Int J Environ Res Public Health. 2018.15 (8) PMID:30081484

Baker, DB, Knoppers, BM, Phillips, M, van Enckevort, D, Kaufmann, P, Lochmuller, H et al.. Privacy-Preserving Linkage of Genomic and Clinical Data Sets. IEEE/ACM Trans Comput Biol Bioinform. .16 (4)1342-1348 PMID:30059313

Best, AF, Hilbert, JE, Wood, L, Martens, WB, Nikolenko, N, Marini-Bettolo, C et al.. Survival patterns and cancer determinants in families with myotonic dystrophy type 1. Eur. J. Neurol. 2019.26 (1)58-65 PMID:30051542

Jimenez-Moreno, AC, Charman, SJ, Nikolenko, N, Larweh, M, Turner, C, Gorman, G et al.. Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy. Disabil Rehabil. 2018. 1-7 PMID:29987963

Chamova, T, Bichev, S, Todorov, T, Gospodinova, M, Taneva, A, Kastreva, K et al.. Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. Neuromuscul. Disord. 2018.28 (8)625-632 PMID:29935994

Okkersen, K, Jimenez-Moreno, C, Wenninger, S, Daidj, F, Glennon, J, Cumming, S et al.. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurol. 2018.17 (8)671-680 PMID:29934199

Issop, Y, Hathazi, D, Khan, MM, Rudolf, R, Weis, J, Spendiff, S et al.. GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. Hum. Mol. Genet. 2018.27 (18)3218-3232 PMID:29905857

Landfeldt, E, Edström, J, Buccella, F, Kirschner, J, Lochmüller, H. Duchenne muscular dystrophy and caregiver burden: a systematic review. Dev Med Child Neurol. 2018.60 (10)987-996 PMID:29904912

Lochmüller, H, Evans, D, Farwell, W, Finkel, R, Goemans, N, de Lemus, M et al.. Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. J Neuromuscul Dis. 2018.5 (2)131-133 PMID:29865093

Crow, RA, Hart, KA, McDermott, MP, Tawil, R, Martens, WB, Herr, BE et al.. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018.19 (1)291 PMID:29793540

Diaz-Manera, J, Fernandez-Torron, R, LLauger, J, James, MK, Mayhew, A, Smith, FE et al.. Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. J. Neurol. Neurosurg. Psychiatry. 2018.89 (10)1071-1081 PMID:29735511

Bansagi, B, Phan, V, Baker, MR, O'Sullivan, J, Jennings, MJ, Whittaker, RG et al.. Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. Neurology. 2018.90 (21)e1842-e1848 PMID:29720545

Pogoryelova, O, González Coraspe, JA, Nikolenko, N, Lochmüller, H, Roos, A. GNE myopathy: from clinics and genetics to pathology and research strategies. Orphanet J Rare Dis. 2018.13 (1)70 PMID:29720219

Owen, D, Töpf, A, Preethish-Kumar, V, Lorenzoni, PJ, Vroling, B, Scola, RH et al.. Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. Am. J. Med. Genet. A. 2018.176 (7)1594-1601 PMID:29704306

Lorenzoni, PJ, Scola, RH, Kay, CSK, Werneck, LC, Horvath, R, Lochmüller, H et al.. How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features. Neuromolecular Med. 2018.20 (2)205-214 PMID:29696584

Spitali, P, Hettne, K, Tsonaka, R, Charrout, M, van den Bergen, J, Koeks, Z et al.. Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies. J Cachexia Sarcopenia Muscle. 2018.9 (4)715-726 PMID:29682908

Boczonadi, V, Meyer, K, Gonczarowska-Jorge, H, Griffin, H, Roos, A, Bartsakoulia, M et al.. Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons. Hum. Mol. Genet. 2018.27 (12)2187-2204 PMID:29648643

Silveira, C, Brunton, E, Spendiff, S, Nazarpour, K. Influence of nerve cuff channel count and implantation site on the separability of afferent ENG. J Neural Eng. 2018.15 (4)046004 PMID:29629880

Alrohaif, H, Töpf, A, Evangelista, T, Lek, M, McArthur, D, Lochmüller, H et al.. Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. Neurol Genet. 2018.4 (2)e226 PMID:29560417

Wood, L, Bassez, G, van Engelen, B, Lochmüller, H, Schoser, B, 222nd ENMC workshop participants et al.. 222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016. Neuromuscul. Disord. 2018.28 (5)463-469 PMID:29550152

Boczonadi, V, King, MS, Smith, AC, Olahova, M, Bansagi, B, Roos, A et al.. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Genet. Med. 2018.20 (10)1224-1235 PMID:29517768

Lochmüller, H, Badowska, DM, Thompson, R, Knoers, NV, Aartsma-Rus, A, Gut, I et al.. RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. Eur. J. Hum. Genet. 2018.26 (6)778-785 PMID:29487416

Landfeldt, E, Mayhew, A, Straub, V, Lochmüller, H, Bushby, K, Lindgren, P et al.. Psychometric analysis of the pediatric quality of life inventory 3.0 neuromuscular module administered to patients with duchenne muscular dystrophy: A rasch analysis. Muscle Nerve. 2018.58 (3)367-373 PMID:29466827

McMacken, G, Cox, D, Roos, A, Müller, J, Whittaker, R, Lochmüller, H et al.. The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes. Hum. Mol. Genet. 2018.27 (9)1556-1564 PMID:29462491

O'Connor, E, Phan, V, Cordts, I, Cairns, G, Hettwer, S, Cox, D et al.. MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion. Hum. Mol. Genet. 2018.27 (8)1434-1446 PMID:29462312

Sarkozy, A, Torelli, S, Mein, R, Henderson, M, Phadke, R, Feng, L et al.. Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. J. Neurol. Neurosurg. Psychiatry. 2018.89 (7)762-768 PMID:29437916

Gainotti, S, Torreri, P, Wang, CM, Reihs, R, Mueller, H, Heslop, E et al.. The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. Eur. J. Hum. Genet. 2018.26 (5)631-643 PMID:29396563

Estephan, EP, Sobreira, CFDR, Dos Santos, ACJ, Tomaselli, PJ, Marques, W Jr, Ortega, RPM et al.. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. J. Neurol. 2018.265 (3)708-713 PMID:29383513

Moore, UR, Jacobs, M, Fernandez-Torron, R, Jang, J, James, MK, Mayhew, A et al.. Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. J. Neurol. Neurosurg. Psychiatry. 2018.89 (11)1224-1226 PMID:29378789

Willmann, R, Buccella, F, De Luca, A, Grounds, MD, 227th ENMC workshop study group. 227th ENMC International Workshop:: Finalizing a plan to guarantee quality in translational research for neuromuscular diseases Heemskerk, Netherlands, 10-11 February 2017. Neuromuscul. Disord. 2018.28 (2)185-192 PMID:29361397

Jiménez-Moreno, AC, Raaphorst, J, Babačić, H, Wood, L, van Engelen, B, Lochmüller, H et al.. Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey. Neuromuscul. Disord. 2018.28 (3)229-235 PMID:29361394

Bartsakoulia, M, Pyle, A, Troncoso-Chandía, D, Vial-Brizzi, J, Paz-Fiblas, MV, Duff, J et al.. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. Hum. Mol. Genet. 2018.27 (7)1186-1195 PMID:29361167

O'Connor, E, Töpf, A, Zahedi, RP, Spendiff, S, Cox, D, Roos, A et al.. Clinical and research strategies for limb-girdle congenital myasthenic syndromes. Ann. N. Y. Acad. Sci. 2018.1412 (1)102-112 PMID:29315608

Pogoryelova, O, Cammish, P, Mansbach, H, Argov, Z, Nishino, I, Skrinar, A et al.. Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion. Neuromuscul. Disord. 2018.28 (2)158-168 PMID:29305133

Lourbakos, A, Yau, N, de Bruijn, P, Hiller, M, Kozaczynska, K, Jean-Baptiste, R et al.. Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne. Sci Rep. 2017.7 (1)17888 PMID:29263366

Landfeldt, E, Mayhew, A, Straub, V, Bushby, K, Lochmüller, H, Lindgren, P et al.. Psychometric properties of the Zarit Caregiver Burden Interview administered to caregivers to patients with Duchenne muscular dystrophy: a Rasch analysis. Disabil Rehabil. 2019.41 (8)966-973 PMID:29254382

Thompson, R, Robertson, A, Lochmüller, H. Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease. Adv. Exp. Med. Biol. 2017.1031 97-124 PMID:29214567

Baynam, G, Bowman, F, Lister, K, Walker, CE, Pachter, N, Goldblatt, J et al.. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. Adv. Exp. Med. Biol. 2017.1031 55-94 PMID:29214566

Sernadela, P, González-Castro, L, Carta, C, van der Horst, E, Lopes, P, Kaliyaperumal, R et al.. Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. Biomed Res Int. 2017.2017 8327980 PMID:29214177

McMacken, G, Whittaker, RG, Evangelista, T, Abicht, A, Dusl, M, Lochmüller, H et al.. Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. J. Neurol. 2018.265 (1)194-203 PMID:29189923

Badrising, UA, Tsonaka, R, Hiller, M, Niks, EH, Evangelista, T, Lochmüller, H et al.. Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis. J Neuromuscul Dis. .4 (4)327-335 PMID:29172005

Lochmüller, H, Torrent I Farnell, J, Le Cam, Y, Jonker, AH, Lau, LP, Baynam, G et al.. The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact. Eur. J. Hum. Genet. 2017.25 (12)1293-1302 PMID:29158551

Harris, E, Marini-Bettolo, C, Töpf, A, Barresi, R, Polvikoski, T, Bailey, G et al.. MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes. Neuromuscul. Disord. 2018.28 (1)48-53 PMID:29128256

Koeks, Z, Bladen, CL, Salgado, D, van Zwet, E, Pogoryelova, O, McMacken, G et al.. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. .4 (4)293-306 PMID:29125504

Landfeldt, E, Edström, J, Lindgren, P, Lochmüller, H. Patient Preferences for Treatments of Neuromuscular Diseases: A Systematic Literature Review. J Neuromuscul Dis. .4 (4)285-292 PMID:29125503

Nicole, S, Azuma, Y, Bauché, S, Eymard, B, Lochmüller, H, Slater, C et al.. Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions. J Neuromuscul Dis. .4 (4)269-284 PMID:29125502

Wang, Y, Pfeiffer, RM, Alsaggaf, R, Meeraus, W, Gage, JC, Anderson, LA et al.. Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink. Int. J. Cancer. 2018.142 (6)1174-1181 PMID:29114849

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. 2018.12 (2) PMID:29059504

Natera-de Benito, D, Töpf, A, Vilchez, JJ, González-Quereda, L, Domínguez-Carral, J, Díaz-Manera, J et al.. Molecular characterization of congenital myasthenic syndromes in Spain. Neuromuscul. Disord. 2017.27 (12)1087-1098 PMID:29054425

Morís, G, Wood, L, FernáNdez-Torrón, R, González Coraspe, JA, Turner, C, Hilton-Jones, D et al.. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018.57 (3)380-387 PMID:29053898

Hindocha, A, Klimiuk, P, Roberts, M, Pal, P, Evangelista, T, Lochmüller, H et al.. Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy. Rheumatology (Oxford). 2017.56 (11)2034-2035 PMID:28977494

Shields, MC, Bowers, MR, Fulcer, MM, Bollig, MK, Rock, PJ, Sutton, BR et al.. Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome. PLoS ONE. 2017.12 (9)e0184817 PMID:28953919

Unger, A, Beckendorf, L, Böhme, P, Kley, R, von Frieling-Salewsky, M, Lochmüller, H et al.. Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. Acta Neuropathol Commun. 2017.5 (1)72 PMID:28915917

Harris, E, Topf, A, Barresi, R, Hudson, J, Powell, H, Tellez, J et al.. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. Orphanet J Rare Dis. 2017.12 (1)151 PMID:28877744

Reza, M, Cox, D, Phillips, L, Johnson, D, Manoharan, V, Grieves, M et al.. MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscul. Disord. 2017.27 (11)1054-1064 PMID:28864117

Takeuchi, F, Komaki, H, Yamagata, Z, Maruo, K, Rodger, S, Kirschner, J et al.. A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis. Neuromuscul. Disord. 2017.27 (10)894-904 PMID:28807665

Austin, CP, Cutillo, CM, Lau, LPL, Jonker, AH, Rath, A, Julkowska, D et al.. Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective. Clin Transl Sci. 2018.11 (1)21-27 PMID:28796445

Dawkins, HJS, Draghia-Akli, R, Lasko, P, Lau, LPL, Jonker, AH, Cutillo, CM et al.. Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective. Clin Transl Sci. 2018.11 (1)11-20 PMID:28796411

Harris, E, Töpf, A, Vihola, A, Evilä, A, Barresi, R, Hudson, J et al.. A 'second truncation' in TTN causes early onset recessive muscular dystrophy. Neuromuscul. Disord. 2017.27 (11)1009-1017 PMID:28716623

Verhaart, IEC, Robertson, A, Wilson, IJ, Aartsma-Rus, A, Cameron, S, Jones, CC et al.. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017.12 (1)124 PMID:28676062

Alsaggaf, R, Wang, Y, Marini-Bettolo, C, Wood, L, Nikolenko, N, Lochmüller, H et al.. Benign and malignant tumors in the UK myotonic dystrophy patient registry. Muscle Nerve. 2018.57 (2)316-320 PMID:28662292

Verhaart, IEC, Robertson, A, Leary, R, McMacken, G, König, K, Kirschner, J et al.. A multi-source approach to determine SMA incidence and research ready population. J. Neurol. 2017.264 (7)1465-1473 PMID:28634652

Carr, SJ, Zahedi, RP, Lochmüller, H, Roos, A. Mass spectrometry-based protein analysis to unravel the tissue pathophysiology in Duchenne muscular dystrophy. Proteomics Clin Appl. 2018.12 (2) PMID:28631898

Harris, E, Burki, U, Marini-Bettolo, C, Neri, M, Scotton, C, Hudson, J et al.. Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. Neuromuscul. Disord. 2017.27 (9)861-872 PMID:28624464

Moreira, S, Wood, L, Smith, D, Marini-Bettolo, C, Guglieri, M, McMacken, G et al.. Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy. J. Neurol. 2017.264 (6)1271-1280 PMID:28550484

Azuma, Y, Töpf, A, Evangelista, T, Lorenzoni, PJ, Roos, A, Viana, P et al.. Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes. Neurol Genet. 2017.3 (3)e152 PMID:28508085

McMacken, G, Abicht, A, Evangelista, T, Spendiff, S, Lochmüller, H. The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes. Neuropediatrics. 2017.48 (4)294-308 PMID:28505670

Boycott, KM, Rath, A, Chong, JX, Hartley, T, Alkuraya, FS, Baynam, G et al.. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am. J. Hum. Genet. 2017.100 (5)695-705 PMID:28475856

White, SJ, Laros, JFJ, Bakker, E, Cambon-Thomsen, A, Eden, M, Leonard, S et al.. Critical points for an accurate human genome analysis. Hum. Mutat. 2017.38 (8)912-921 PMID:28471515

Bertini, E, Dessaud, E, Mercuri, E, Muntoni, F, Kirschner, J, Reid, C et al.. Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurol. 2017.16 (7)513-522 PMID:28460889

Hoffman, EP, Workshop Participants, TREAT-NMD Alliance. Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA. Neuromuscul. Disord. 2017.27 (7)693-701 PMID:28434909

Wood, L, Cordts, I, Atalaia, A, Marini-Bettolo, C, Maddison, P, Phillips, M et al.. The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research. J. Neurol. 2017.264 (5)979-988 PMID:28397002

Perić, S, Glumac, JN, Töpf, A, Savić-Pavićević, D, Phillips, L, Johnson, K et al.. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. Eur. J. Hum. Genet. 2017.25 (5)572-581 PMID:28295036

Jimenez-Moreno, AC, Newman, J, Charman, SJ, Catt, M, Trenell, MI, Gorman, GS et al.. Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review. J Neuromuscul Dis. 2017.4 (1)25-52 PMID:28269791

Bansagi, B, Griffin, H, Whittaker, RG, Antoniadi, T, Evangelista, T, Miller, J et al.. Genetic heterogeneity of motor neuropathies. Neurology. 2017.88 (13)1226-1234 PMID:28251916

Wiessner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D et al.. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. Am. J. Hum. Genet. 2017.100 (3)523-536 PMID:28190456

Otto, C, Steffensen, BF, Højberg, AL, Barkmann, C, Rahbek, J, Ravens-Sieberer, U et al.. Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries. J. Neurol. 2017.264 (4)709-723 PMID:28175989

DiPaolo, G, Jimenez-Moreno, C, Nikolenko, N, Atalaia, A, Monckton, DG, Guglieri, M et al.. Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA). J. Neurol. 2017.264 (4)701-708 PMID:28168524

Burch, PM, Pogoryelova, O, Palandra, J, Goldstein, R, Bennett, D, Fitz, L et al.. Reduced serum myostatin concentrations associated with genetic muscle disease progression. J. Neurol. 2017.264 (3)541-553 PMID:28074267

Coenen-Stass, AM, McClorey, G, Manzano, R, Betts, CA, Blain, A, Saleh, AF et al.. Corrigendum: Identification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamer-based serum proteomics. Sci Rep. 2016.6 37047 PMID:27991493

Harris, E, McEntagart, M, Topf, A, Lochmüller, H, Bushby, K, Sewry, C et al.. Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations. Neuromuscul. Disord. 2017.27 (2)170-174 PMID:27932089

West, SD, Lochmüller, H, Hughes, J, Atalaia, A, Marini-Bettolo, C, Baudouin, SV et al.. Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study. J Neuromuscul Dis. 2016.3 (4)529-537 PMID:27911338

Vry, J, Gramsch, K, Rodger, S, Thompson, R, Steffensen, BF, Rahbek, J et al.. European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences. J Neuromuscul Dis. 2016.3 (4)517-527 PMID:27911335

Jørgensen, LH, Jepsen, PL, Boysen, A, Dalgaard, LB, Hvid, LG, Ørtenblad, N et al.. SPARC Interacts with Actin in Skeletal Muscle in Vitro and in Vivo. Am. J. Pathol. 2017.187 (2)457-474 PMID:27908613

Köhler, S, Vasilevsky, NA, Engelstad, M, Foster, E, McMurry, J, Aymé, S et al.. The Human Phenotype Ontology in 2017. Nucleic Acids Res. 2017.45 (D1)D865-D876 PMID:27899602

Bansagi, B, Lewis-Smith, D, Pal, E, Duff, J, Griffin, H, Pyle, A et al.. Phenotypic convergence of Menkes and Wilson disease. Neurol Genet. 2016.2 (6)e119 PMID:27878136

Vasli, N, Harris, E, Karamchandani, J, Bareke, E, Majewski, J, Romero, NB et al.. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain. 2017.140 (1)37-48 PMID:27816943

Landfeldt, E, Alfredsson, L, Straub, V, Lochmüller, H, Bushby, K, Lindgren, P et al.. Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis. Pharmacoeconomics. 2017.35 (2)249-258 PMID:27798808

Lochmüller, H, Le Cam, Y, Jonker, AH, Lau, LP, Baynam, G, Kaufmann, P et al.. 'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. Eur. J. Hum. Genet. 2017.25 (2)162-165 PMID:27782107

Spendiff, S, Vuda, M, Gouspillou, G, Aare, S, Perez, A, Morais, JA et al.. Denervation drives mitochondrial dysfunction in skeletal muscle of octogenarians. J. Physiol. (Lond.). 2016.594 (24)7361-7379 PMID:27619626

Reza, M, Laval, SH, Roos, A, Carr, S, Lochmüller, H. Optimization of Internally Deleted Dystrophin Constructs. Hum Gene Ther Methods. 2016.27 (5)174-186 PMID:27477497

Bello, L, Flanigan, KM, Weiss, RB, United Dystrophinopathy Project, Spitali, P, Aartsma-Rus, A et al.. Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy. Am. J. Hum. Genet. 2016.99 (5)1163-1171 PMID:27745838

Landfeldt, E, Lindgren, P, Guglieri, M, Lochmüller, H, Bushby, K. Compliance to care guidelines for Duchenne muscular dystrophy in Italy. Neuromuscul. Disord. 2018.28 (1)100 PMID:29198861

Harris, E, Bladen, CL, Mayhew, A, James, M, Bettinson, K, Moore, U et al.. The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurol Genet. 2016.2 (4)e89 PMID:27602406

Aare, S, Spendiff, S, Vuda, M, Elkrief, D, Perez, A, Wu, Q et al.. Failed reinnervation in aging skeletal muscle. Skelet Muscle. 2016.6 (1)29 PMID:27588166

Bauché, S, O'Regan, S, Azuma, Y, Laffargue, F, McMacken, G, Sternberg, D et al.. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. Am. J. Hum. Genet. 2016.99 (3)753-761 PMID:27569547

Van Ruiten, HJ, Marini Bettolo, C, Cheetham, T, Eagle, M, Lochmuller, H, Straub, V et al.. Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England. Eur. J. Paediatr. Neurol. 2016.20 (6)904-909 PMID:27524390

Preethish-Kumar, V, Pogoryelova, O, Polavarapu, K, Gayathri, N, Seena, V, Hudson, J et al.. Beevor's sign: a potential clinical marker for GNE myopathy. Eur. J. Neurol. 2016.23 (8)e46-8 PMID:27431025

Willis, TA, Wood, CL, Hudson, J, Polvikoski, T, Barresi, R, Lochmüller, H et al.. Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion. Clin. Genet. 2016.90 (2)166-70 PMID:27409453

Evangelista, T, Weihl, CC, Kimonis, V, Lochmüller, H, VCP related diseases Consortium. 215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands. Neuromuscul. Disord. 2016.26 (8)535-47 PMID:27312024

Mascalzoni, D, Dove, ES, Rubinstein, Y, Dawkins, HJ, Kole, A, McCormack, P et al.. International Charter of principles for sharing bio-specimens and data. Eur. J. Hum. Genet. 2016.24 (7)1096 PMID:27307116

Vissing, J, Barresi, R, Witting, N, Van Ghelue, M, Gammelgaard, L, Bindoff, LA et al.. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain. 2016.139 (Pt 8)2154-63 PMID:27259757

O'Connor, E, Töpf, A, Müller, JS, Cox, D, Evangelista, T, Colomer, J et al.. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain. 2016.139 (Pt 8)2143-53 PMID:27259756

Hansson, MG, Lochmüller, H, Riess, O, Schaefer, F, Orth, M, Rubinstein, Y et al.. The risk of re-identification versus the need to identify individuals in rare disease research. Eur. J. Hum. Genet. 2016.24 (11)1553-1558 PMID:27222291

Evangelista, T, Wood, L, Fernandez-Torron, R, Williams, M, Smith, D, Lunt, P et al.. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. J. Neurol. 2016.263 (7)1401-8 PMID:27159994

Rodríguez Cruz, PM, Belaya, K, Basiri, K, Sedghi, M, Farrugia, ME, Holton, JL et al.. Clinical features of the myasthenic syndrome arising from mutations in GMPPB. J. Neurol. Neurosurg. Psychiatry. 2016.87 (8)802-9 PMID:27147698

Landfeldt, E, Mayhew, A, Eagle, M, Lindgren, P, Bell, CF, Guglieri, M et al.. Corrigendum to "Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)" [Neuromuscular Disorders 25 (2015) 937-944]. Neuromuscul. Disord. .26 (4-5)329 PMID:27087611

McCormack, P, Kole, A, Gainotti, S, Mascalzoni, D, Molster, C, Lochmüller, H et al.. 'You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research. Eur. J. Hum. Genet. 2016.24 (10)1403-8 PMID:27049302

Landfeldt, E, Lindgren, P, Bell, CF, Guglieri, M, Straub, V, Lochmüller, H et al.. Quantifying the burden of caregiving in Duchenne muscular dystrophy. J. Neurol. 2016.263 (5)906-915 PMID:26964543

Scotton, C, Bovolenta, M, Schwartz, E, Falzarano, MS, Martoni, E, Passarelli, C et al.. Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. J. Cell. Sci. 2016.129 (8)1671-84 PMID:26945058

Konokhova, Y, Spendiff, S, Jagoe, RT, Aare, S, Kapchinsky, S, MacMillan, NJ et al.. Failed upregulation of TFAM protein and mitochondrial DNA in oxidatively deficient fibers of chronic obstructive pulmonary disease locomotor muscle. Skelet Muscle. 2016.6 10 PMID:26893822

Evangelista, T, Hanna, M, Lochmüller, H. Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness. J Neuromuscul Dis. 2015.2 (Suppl 2)S21-S29 PMID:26870666

Burch, PM, Pogoryelova, O, Goldstein, R, Bennett, D, Guglieri, M, Straub, V et al.. Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy. J Neuromuscul Dis. 2015.2 (3)241-255 PMID:26870665

Landfeldt, E, Lindgren, P, Bell, CF, Schmitt, C, Guglieri, M, Straub, V et al.. Compliance to Care Guidelines for Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2015.2 (1)63-72 PMID:26870664

Gainotti, S, Turner, C, Woods, S, Kole, A, McCormack, P, Lochmüller, H et al.. Improving the informed consent process in international collaborative rare disease research: effective consent for effective research. Eur. J. Hum. Genet. 2016.24 (9)1248-54 PMID:26860059

Meng, J, Counsell, JR, Reza, M, Laval, SH, Danos, O, Thrasher, A et al.. Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy. Sci Rep. 2016.6 19750 PMID:26813695

Natera-de Benito, D, Bestué, M, Vilchez, JJ, Evangelista, T, Töpf, A, García-Ribes, A et al.. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. Neuromuscul. Disord. 2016.26 (2)153-9 PMID:26782015

Natera-de Benito, D, Nascimento, A, Abicht, A, Ortez, C, Jou, C, Müller, JS et al.. KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. J. Neurol. 2016.263 (3)517-23 PMID:26754003

Khan, MM, Lustrino, D, Silveira, WA, Wild, F, Straka, T, Issop, Y et al.. Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease. Proc. Natl. Acad. Sci. U.S.A. 2016.113 (3)746-50 PMID:26733679

Oonk, S, Spitali, P, Hiller, M, Switzar, L, Dalebout, H, Calissano, M et al.. Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients. Proteomics Clin Appl. 2016.10 (3)290-9 PMID:26680509

Power, GA, Minozzo, FC, Spendiff, S, Filion, ME, Konokhova, Y, Purves-Smith, MF et al.. Reduction in single muscle fiber rate of force development with aging is not attenuated in world class older masters athletes. Am. J. Physiol., Cell Physiol. 2016.310 (4)C318-27 PMID:26632598

Coenen-Stass, AM, McClorey, G, Manzano, R, Betts, CA, Blain, A, Saleh, AF et al.. Identification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamer-based serum proteomics. Sci Rep. 2015.5 17014 PMID:26594036

Urtizberea, JA, Lochmuller, H, Tournev, I. [Myology and ethnic minorities: all roads lead to the Roma]. Med Sci (Paris). 2015.31 Spec No 3 34-8 PMID:26546931

Whittaker, RG, Herrmann, DN, Bansagi, B, Hasan, BA, Lofra, RM, Logigian, EL et al.. Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. Neurology. 2015.85 (22)1964-71 PMID:26519543

Chen, Q, Müller, JS, Pang, PC, Laval, SH, Haslam, SM, Lochmüller, H et al.. Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1). Biomolecules. 2015.5 (4)2758-81 PMID:26501342

Landfeldt, E, Mayhew, A, Eagle, M, Lindgren, P, Bell, CF, Guglieri, M et al.. Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT). Neuromuscul. Disord. 2015.25 (12)937-44 PMID:26483273

Landfeldt, E, Lindgren, P, Bell, CF, Guglieri, M, Straub, V, Lochmüller, H et al.. Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study. Dev Med Child Neurol. 2016.58 (5)508-15 PMID:26483095

Chamova, T, Guergueltcheva, V, Gospodinova, M, Krause, S, Cirak, S, Kaprelyan, A et al.. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Neuromuscul. Disord. 2015.25 (9)713-8 PMID:26231298

Belaya, K, Rodríguez Cruz, PM, Liu, WW, Maxwell, S, McGowan, S, Farrugia, ME et al.. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain. 2015.138 (Pt 9)2493-504 PMID:26133662

Figueroa-Bonaparte, S, Hudson, J, Barresi, R, Polvikoski, T, Williams, T, Töpf, A et al.. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. J. Neurol. Neurosurg. Psychiatry. 2016.87 (6)680-1 PMID:26105173

Bansagi, B, Antoniadi, T, Burton-Jones, S, Murphy, SM, McHugh, J, Alexander, M et al.. Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland. J. Neurol. 2015.262 (8)1899-908 PMID:26032230

Zech, M, Lam, DD, Francescatto, L, Schormair, B, Salminen, AV, Jochim, A et al.. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am. J. Hum. Genet. 2015.96 (6)883-93 PMID:26004199

van Engelen, B, OPTIMISTIC Consortium. Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial. Trials. 2015.16 224 PMID:26002596

Evangelista, T, Bansagi, B, Pyle, A, Griffin, H, Douroudis, K, Polvikoski, T et al.. Phenotypic variability of TRPV4 related neuropathies. Neuromuscul. Disord. 2015.25 (6)516-21 PMID:25900305

Dusl, M, Senderek, J, Müller, JS, Vogel, JG, Pertl, A, Stucka, R et al.. A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome. Hum. Mol. Genet. 2015.24 (12)3418-26 PMID:25765662

Gouspillou, G, Scheede-Bergdahl, C, Spendiff, S, Vuda, M, Meehan, B, Mlynarski, H et al.. Anthracycline-containing chemotherapy causes long-term impairment of mitochondrial respiration and increased reactive oxygen species release in skeletal muscle. Sci Rep. 2015.5 8717 PMID:25732599

Bladen, CL, Salgado, D, Monges, S, Foncuberta, ME, Kekou, K, Kosma, K et al.. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum. Mutat. 2015.36 (4)395-402 PMID:25604253

Mora, M, Angelini, C, Bignami, F, Bodin, AM, Crimi, M, Di Donato, JH et al.. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. Eur. J. Hum. Genet. 2015.23 (9)1116-23 PMID:25537360

Rodger, S, Woods, KL, Bladen, CL, Stringer, A, Vry, J, Gramsch, K et al.. Adult care for Duchenne muscular dystrophy in the UK. J. Neurol. 2015.262 (3)629-41 PMID:25536903

Ferlini, A, Flanigan, KM, Lochmuller, H, Muntoni, F, 't Hoen, PA, McNally, E et al.. 204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands. Neuromuscul. Disord. 2015.25 (2)184-98 PMID:25529833

van den Bergen, JC, Hiller, M, Böhringer, S, Vijfhuizen, L, Ginjaar, HB, Chaouch, A et al.. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. J. Neurol. Neurosurg. Psychiatry. 2015.86 (10)1060-5 PMID:25476005

Mascalzoni, D, Dove, ES, Rubinstein, Y, Dawkins, HJ, Kole, A, McCormack, P et al.. International Charter of principles for sharing bio-specimens and data. Eur. J. Hum. Genet. 2015.23 (6)721-8 PMID:25248399

De Palma, S, Capitanio, D, Vasso, M, Braghetta, P, Scotton, C, Bonaldo, P et al.. Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. J. Proteome Res. 2014.13 (11)5022-30 PMID:25211533

Herrmann, DN, Horvath, R, Sowden, JE, Gonzalez, M, Gonzales, M, Sanchez-Mejias, A et al.. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am. J. Hum. Genet. 2014.95 (3)332-9 PMID:25192047

Walter, MC, Bernert, G, Zimmermann, U, Müllner-Eidenböck, A, Moser, E, Kalaydjieva, L et al.. Long-term follow-up in patients with CCFDN syndrome. Neurology. 2014.83 (15)1337-44 PMID:25186864

Balreira, A, Boczonadi, V, Barca, E, Pyle, A, Bansagi, B, Appleton, M et al.. ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. J. Neurol. 2014.261 (11)2192-8 PMID:25182700

Haberlova, J, Mitrović, Z, Zarković, K, Lovrić, D, Barić, V, Berlengi, L et al.. Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy. Neuromuscul. Disord. 2014.24 (11)990-2 PMID:25088310

Thompson, R, Johnston, L, Taruscio, D, Monaco, L, Béroud, C, Gut, IG et al.. RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med. 2014.29 Suppl 3 S780-7 PMID:25029978

Landfeldt, E, Lindgren, P, Bell, CF, Schmitt, C, Guglieri, M, Straub, V et al.. The burden of Duchenne muscular dystrophy: an international, cross-sectional study. Neurology. 2014.83 (6)529-36 PMID:24991029

Boczonadi, V, Müller, JS, Pyle, A, Munkley, J, Dor, T, Quartararo, J et al.. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun. 2014.5 4287 PMID:24989451

Nicole, S, Chaouch, A, Torbergsen, T, Bauché, S, de Bruyckere, E, Fontenille, MJ et al.. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain. 2014.137 (Pt 9)2429-43 PMID:24951643

Ayoglu, B, Chaouch, A, Lochmüller, H, Politano, L, Bertini, E, Spitali, P et al.. Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med. 2014.6 (7)918-36 PMID:24920607

Chaouch, A, Brennan, KM, Hudson, J, Longman, C, McConville, J, Morrison, PJ et al.. Two recurrent mutations are associated with GNE myopathy in the North of Britain. J. Neurol. Neurosurg. Psychiatry. 2014.85 (12)1359-65 PMID:24695763

Marttila, M, Lehtokari, VL, Marston, S, Nyman, TA, Barnerias, C, Beggs, AH et al.. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum. Mutat. 2014.35 (7)779-90 PMID:24692096

Greer, KL, Lochmüller, H, Flanigan, K, Fletcher, S, Wilton, SD. Targeted exon skipping to correct exon duplications in the dystrophin gene. Mol Ther Nucleic Acids. 2014.3 e155 PMID:24643206

Willis, TA, Hollingsworth, KG, Coombs, A, Sveen, ML, Andersen, S, Stojkovic, T et al.. Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. PLoS ONE. 2014.9 (2)e90377 PMID:24587344

Meng, J, Chun, S, Asfahani, R, Lochmüller, H, Muntoni, F, Morgan, J et al.. Human skeletal muscle-derived CD133(+) cells form functional satellite cells after intramuscular transplantation in immunodeficient host mice. Mol. Ther. 2014.22 (5)1008-17 PMID:24569833

View on PubMed

Read next...

Map of Ottawa showing CHEO-RI location

Contact us

Contact us Mailing address: CHEO Research Institute 401 Smyth Road Ottawa, ON K1H 8L1 Canada   Email addresses: See the…


Our research is founded on strong collaborations with leading investigators, academic groups, patient organizations and industrial partners within Canada and worldwide. Prior to moving to Canada, Hanns was based in Europe (Germany and UK) and has maintained the strong international collaborations he has developed throughout his career.

Image of the Ottawa Hospital Civic Campus

Clinical work

Hanns sees neuromuscular patients in clinic at the Neuromuscular Research Centre, located at the Civic Campus of The Ottawa Hospital. This newly opened state-of-the-art centre allows people with NMDs to have consultations with neuromuscular experts and to participate in clinical research.

Rack of newspapers


Read the latest news about our group, our research, our collaborations and our publications here. You can also follow us on Twitter – search for @LochmullerLab.

medicine capsules spilling out of a jar

Industry collaborations

Collaboration with the pharmaceutical industry is essential in order to achieve the translation of preclinical research findings into clinical trials. Hanns is an experienced investigator in commercially sponsored clinical studies and our group also works closely with basic research teams within pharma companies on various preclinical studies.

Diseases of interest

Our group is interested in rare inherited neuromuscular diseases, in particular congenital myasthenic syndromes, myotonic dystrophy, GNE myopathy, Duchenne muscular dystrophy and spinal muscular atrophy. We investigate these conditions in the lab and in the clinic in a “bench to bedside” approach.

Researcher using a pipette in a fume hood

Research areas

Although individually uncommon, rare diseases are so numerous that they collectively affect as many as one person in every 17 – in Canada, about 2 million people. Our research program focuses on defining the basic molecular and cellular mechanisms that cause neuromuscular disorders, to enable improved diagnosis, better care and development of effective treatments.

The Lochmuller Lab team

Team members

Find out more about Hanns and his team members here and see whether you would like to join us! We are always interested in hearing from scientists and clinicians at all stages of their careers, whether you want to join the team or start a scientific collaboration.

Hanns's research team in Newcastle, UK

About us

We are a clinical and scientific research team focusing on research into rare neuromuscular disorders and clinical care for patients with these conditions. We aim to understand why small variations in the human genome lead to these frequently disabling, sometimes lethal, and rarely treatable conditions affecting the musculature and nervous system.