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.
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Horrigan, J, Gomes, TB, Snape, M, Nikolenko, N, McMorn, A, Evans, S et al.. A Phase 2 Study of AMO-02 (Tideglusib) in Congenital and Childhood-Onset Myotonic Dystrophy Type 1 (DM1). Pediatr. Neurol. 2020.112 84-93 PMID:32942085

Hodgkinson, V, Lounsberry, J, M'Dahoma, S, Russell, A, Benstead, T, Brais, B et al.. The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Through a Nationwide, Pan-Neuromuscular Disease Registry. J Neuromuscul Dis. 2020. PMID:32925088

McMacken, G, Whittaker, RG, Charlton, R, Barresi, R, Lochmüller, H, Horvath, R et al.. Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies. Eur. J. Neurol. 2020. PMID:32909314

Atalaia, A, Thompson, R, Corvo, A, Carmody, L, Piscia, D, Matalonga, L et al.. A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. Orphanet J Rare Dis. 2020.15 (1)206 PMID:32787960

Hedberg-Oldfors, C, Meyer, R, Nolte, K, Abdul Rahim, Y, Lindberg, C, Karason, K et al.. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain. 2020.143 (8)2406-2420 PMID:32779703

Donkervoort, S, Mohassel, P, Laugwitz, L, Zaki, MS, Kamsteeg, EJ, Maroofian, R et al.. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am. J. Med. Genet. A. 2020. PMID:32776697

Passarelli, C, Selvatici, R, Carrieri, A, Di Raimo, FR, Falzarano, MS, Fortunato, F et al.. Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. Front Genet. 2020.11 605 PMID:32719714

Hodgkinson, VL, Chapman, K, Izenberg, A, Lochmüller, H, O'Connell, C, O'Ferrall, EK et al.. Response to provincial governments' decisions regarding monitoring for adults with Spinal Muscular Atrophy. Can J Neurol Sci. 2020. 1-10 PMID:32713403

Lim, AZ, McMacken, G, Rastelli, F, Oláhová, M, Baty, K, Hopton, S et al.. A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features. Neuromuscul. Disord. 2020.30 (8)661-668 PMID:32684384

McMacken, G, Lochmüller, H, Bansagi, B, Pyle, A, Lochmüller, A, Chinnery, PF et al.. Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. J. Neurol. 2020. PMID:32656641

Matalonga, L, Laurie, S, Papakonstantinou, A, Piscia, D, Mereu, E, Bullich, G et al.. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. J Mol Diagn. 2020.22 (9)1205-1215 PMID:32619640

Landfeldt, E, Nikolenko, N, Jimenez-Moreno, C, Cumming, S, Monckton, DG, Faber, CG et al.. Change over time in ability to perform activities of daily living in myotonic dystrophy type 1. J. Neurol. 2020. PMID:32542526

Sansone, VA, Walter, MC, Attarian, S, Delstanche, S, Mercuri, E, Lochmüller, H et al.. Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report. J Neuromuscul Dis. 2020.7 (4)523-534 PMID:32538864

Hodgkinson, VL, Oskoui, M, Lounsberry, J, M'Dahoma, S, Butler, E, Campbell, C et al.. A National Spinal Muscular Atrophy Registry for Real-World Evidence. Can J Neurol Sci. 2020. 1-6 PMID:32493524

Thompson, R, Spendiff, S, Roos, A, Bourque, PR, Warman Chardon, J, Kirschner, J et al.. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Lancet Neurol. 2020.19 (6)522-532 PMID:32470424

Oktay, Y, Güngör, S, Zeltner, L, Wiethoff, S, Schöls, L, Sonmezler, E et al.. Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families. J Neuromuscul Dis. 2020.7 (3)301-308 PMID:32444556

Strandberg, K, Ayoglu, B, Roos, A, Reza, M, Niks, E, Signorelli, M et al.. Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy. J Neuromuscul Dis. 2020.7 (3)231-246 PMID:32390640

Paketci, C, Edem, P, Hiz, S, Sonmezler, E, Soydemir, D, Sarikaya Uzan, G et al.. Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. Brain Dev. 2020.42 (7)539-545 PMID:32389449

Landfeldt, E, Pogoryelova, O, Sejersen, T, Zethraeus, N, Breiner, A, Lochmüller, H et al.. Economic Costs of Myasthenia Gravis: A Systematic Review. Pharmacoeconomics. 2020.38 (7)715-728 PMID:32363541

Bonanno, C, Rodolico, C, Töpf, A, Foti, FM, Liu, WW, Beeson, D et al.. Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene. Neuromuscul. Disord. 2020.30 (4)336-339 PMID:32360402

Murphy, LB, Schreiber-Katz, O, Rafferty, K, Robertson, A, Topf, A, Willis, TA et al.. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Ann Clin Transl Neurol. 2020.7 (5)757-766 PMID:32342672

Lorenzoni, PJ, Kay, CSK, Arndt, RC, Hrysay, NMC, Ducci, RD, Fustes, OHJ et al.. Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness. J Clin Neurosci. 2020.75 195-198 PMID:32238315

Pęziński, M, Daszczuk, P, Pradhan, BS, Lochmüller, H, Prószyński, TJ. An improved method for culturing myotubes on laminins for the robust clustering of postsynaptic machinery. Sci Rep. 2020.10 (1)4524 PMID:32161296

Landfeldt, E, Thompson, R, Sejersen, T, McMillan, HJ, Kirschner, J, Lochmüller, H et al.. Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis. Eur. J. Epidemiol. 2020.35 (7)643-653 PMID:32107739

Yaramis, A, Lochmüller, H, Töpf, A, Sonmezler, E, Yilmaz, E, Hiz, S et al.. COL4A1-related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet. 2020.6 (1)e392 PMID:32042920

Savarese, M, Johari, M, Johnson, K, Arumilli, M, Torella, A, Töpf, A et al.. Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies. J Neuromuscul Dis. 2020.7 (2)153-166 PMID:32039858

Nilipour, Y, Fatehi, F, Sanatinia, S, Bradshaw, A, Duff, J, Lochmüller, H et al.. Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. J. Neurol. Sci. 2020.411 116707 PMID:32007756

Capitanio, D, Moriggi, M, Torretta, E, Barbacini, P, De Palma, S, Viganò, A et al.. Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients. J Cachexia Sarcopenia Muscle. 2020.11 (2)547-563 PMID:31991054

Spitali, P, Zaharieva, I, Bohringer, S, Hiller, M, Chaouch, A, Roos, A et al.. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. Eur. J. Hum. Genet. 2020.28 (6)815-825 PMID:31896777

Landfeldt, E, Nikolenko, N, Jimenez-Moreno, C, Cumming, S, Monckton, DG, Faber, CG et al.. Activities of daily living in myotonic dystrophy type 1. Acta Neurol. Scand. 2020.141 (5)380-387 PMID:31889295

Signorelli, M, Ayoglu, B, Johansson, C, Lochmüller, H, Straub, V, Muntoni, F et al.. Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle. 2020.11 (2)505-517 PMID:31881125

Devereux, L, Watson, PH, Mes-Masson, AM, Luna-Crespo, F, Thomas, G, Pitman, H et al.. A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review. Biopreserv Biobank. 2019.17 (6)512-519 PMID:31794678

Pechmann, A, Eckenweiler, M, Schorling, D, Stavropoulou, D, Lochmüller, H, Kirschner, J et al.. De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure. Neuromuscul. Disord. 2019.29 (11)907-909 PMID:31732390

Higgs, C, Hilbert, JE, Wood, L, Martens, WB, Marini-Bettolo, C, Nikolenko, N et al.. Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries. Front Neurol. 2019.10 1071 PMID:31681146

Walter, MC, Wenninger, S, Thiele, S, Stauber, J, Hiebeler, M, Greckl, E et al.. Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study. J Neuromuscul Dis. 2019.6 (4)453-465 PMID:31594243

Töpf, A, Oktay, Y, Balaraju, S, Yilmaz, E, Sonmezler, E, Yis, U et al.. Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur. J. Hum. Genet. 2020.28 (3)383-387 PMID:31558842

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. 2020.28 (3)373-377 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.). 2019.597 (19)5009-5023 PMID:31368533

Mingirulli, N, Pyle, A, Hathazi, D, Alston, CL, Kohlschmidt, N, O'Grady, G et al.. Clinical presentation and proteomic signature of patients with TANGO2 mutations. J. Inherit. Metab. Dis. 2020.43 (2)297-308 PMID:31339582

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. 2019.40 (10)1797-1812 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 Reactive Oxygen Species, and Modulation by Denervation in Skeletal Muscle of Prefrail or Frail Elderly Women. J. Gerontol. A Biol. Sci. Med. Sci. 2019.74 (12)1887-1895 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. Annu Int Conf 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. 2019.41 (24)2972-2978 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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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About us

About us

Welcome to the website of Dr Hanns Lochmüller's research group in Ottawa, Canada. These pages are maintained by group members to provide an overview of...
The team

Team members

Meet the team Hanns Lochmüller Professor Hanns Lochmüller is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare disease. He is Senior...
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Research areas

Our areas of research Although individually uncommon, rare diseases are so numerous that they collectively affect as many as one person in every 17 –...
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News Oct 25 The power of diagnosis – watch “Yakup’s journey to hope” A genetic diagnosis brings so much to families - and sometimes allows...


We are a highly collaborative group and our research is founded on strong partnerships with leading investigators, academic groups, patient organizations and pharmaceutical and biotech...
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Contact us

Contact us Mailing address: CHEO Research Institute 401 Smyth Road Ottawa, ON K1H 8L1 Canada   Email addresses: See the profile pages of individual team...