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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Regensburger, AP, Wagner, AL, Danko, V, Jüngert, J, Federle, A, Klett, D et al.. Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients. Photoacoustics. 2022.25 100315 PMID:34849338

Kurul, SH, Oktay, Y, Töpf, A, Szabó, NZ, Güngör, S, Yaramis, A et al.. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain. 2021. PMID:34791078

Estephan, EP, Zambon, AA, Thompson, R, Polavarapu, K, Jomaa, D, Töpf, A et al.. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. Eur J Neurol. 2021. PMID:34749429

Koutalianos, D, Koutsoulidou, A, Mytidou, C, Kakouri, AC, Oulas, A, Tomazou, M et al.. miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1. Mol Ther Methods Clin Dev. 2021.23 169-183 PMID:34703840

Huddar, A, Polavarapu, K, Preethish-Kumar, V, Bardhan, M, Unnikrishnan, G, Nashi, S et al.. Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis. Children (Basel). 2021.8 (10) PMID:34682174

Siddiqui, S, Polavarapu, K, Bardhan, M, Preethish-Kumar, V, Joshi, A, Nashi, S et al.. Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation. J Neuromuscul Dis. 2021. PMID:34633329

Richard, EM, Bakhtiari, S, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S et al.. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021.108 (10)2006-2016 PMID:34626583

Gangfuß, A, Czech, A, Hentschel, A, Münchberg, U, Horvath, R, Töpf, A et al.. Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. J Pathol. 2021. PMID:34599609

Gangfuß, A, Lochmüller, H, Töpf, A, O'Heir, E, Horvath, R, Kölbel, H et al.. A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. Am J Med Genet A. 2021. PMID:34519148

Schüle, R, Timmann, D, Erasmus, CE, Reichbauer, J, Wayand, M, Solve-RD-DITF-RND et al.. Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet. 2021.29 (9)1462-1465 PMID:34429526

Jimenez-Moreno, AC, Pinto, CA, Levitan, B, Whichello, C, Dyer, C, Van Overbeeke, E et al.. A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project. Wellcome Open Res. 2020.5 253 PMID:34395923

Matalonga, L, Hernández-Ferrer, C, Piscia, D, Solve-RD SNV-indel working group, Schüle, R, Synofzik, M et al.. Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021.29 (9)1466-1469 PMID:34393220

Zurek, B, Ellwanger, K, Vissers, LELM, Schüle, R, Synofzik, M, Töpf, A et al.. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021.29 (9)1459-1461 PMID:34385672

Polavarapu, K, Mathur, A, Joshi, A, Nashi, S, Preethish-Kumar, V, Bardhan, M et al.. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. Neurogenetics. 2021.22 (4)271-285 PMID:34333724

van As, D, Okkersen, K, Bassez, G, Schoser, B, Lochmüller, H, Glennon, JC et al.. Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy. J Neuromuscul Dis. 2021.8 (6)1031-1046 PMID:34250945

McMillan, HJ, Lochmüller, H. Biomarkers in Duchenne and Becker muscular dystrophies. Muscle Nerve. 2021.64 (1)4-5 PMID:34076279

Matalonga, L, Hernández-Ferrer, C, Piscia, D, Solve-RD SNV-indel working group, Schüle, R, Synofzik, M et al.. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021.29 (9)1337-1347 PMID:34075210

Töpf, A, Pyle, A, Griffin, H, Matalonga, L, Schon, K, Solve-RD SNV-indel working group et al.. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021.29 (9)1348-1353 PMID:34075209

Zurek, B, Ellwanger, K, Vissers, LELM, Schüle, R, Synofzik, M, Töpf, A et al.. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021.29 (9)1325-1331 PMID:34075208

Schüle, R, Timmann, D, Erasmus, CE, Reichbauer, J, Wayand, M, Solve-RD-DITF-RND et al.. Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet. 2021.29 (9)1332-1336 PMID:33972714

Wenninger, S, Cumming, SA, Gutschmidt, K, Okkersen, K, Jimenez-Moreno, AC, Daidj, F et al.. Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1. Neurol Genet. 2021.7 (2)e572 PMID:33884298

Slayter, J, Hodgkinson, V, Lounsberry, J, Brais, B, Chapman, K, Genge, A et al.. A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method. J Neuromuscul Dis. 2021.8 (4)579-588 PMID:33867362

Pini, J, Siciliano, G, Lahaut, P, Braun, S, Segovia-Kueny, S, Kole, A et al.. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019. J Neuromuscul Dis. 2021.8 (4)743-754 PMID:33843694

Hathazi, D, Cox, D, D'Amico, A, Tasca, G, Charlton, R, Carlier, RY et al.. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain. 2021.144 (8)2427-2442 PMID:33792664

Atalaia, A, Thompson, R, Corvo, A, Carmody, L, Piscia, D, Matalonga, L et al.. Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome. Orphanet J Rare Dis. 2021.16 (1)145 PMID:33752678

McMillan, HJ, Gerber, B, Cowling, T, Khuu, W, Mayer, M, Wu, JW et al.. Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada. J Neuromuscul Dis. 2021.8 (4)553-568 PMID:33749617

Lochmüller, H, Ramirez, AN, Kakkis, E. Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders. Orphanet J Rare Dis. 2021.16 (1)141 PMID:33743771

Manta, A, Spendiff, S, Lochmüller, H, Thompson, R. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'. J Neuromuscul Dis. 2021.8 (3)401-417 PMID:33720849

Grande, V, Hathazi, D, O'Connor, E, Marteau, T, Schara-Schmidt, U, Hentschel, A et al.. Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients. J Neuromuscul Dis. 2021.8 (4)603-619 PMID:33682722

Polavarapu, K, Vengalil, S, Preethish-Kumar, V, Arunachal, G, Nashi, S, Mohan, D et al.. Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype. Eur J Paediatr Neurol. 2021.31 54-60 PMID:33631708

Landfeldt, E, Pechmann, A, McMillan, HJ, Lochmüller, H, Sejersen, T. Costs of Illness of Spinal Muscular Atrophy: A Systematic Review. Appl Health Econ Health Policy. 2021.19 (4)501-520 PMID:33576939

Jacob, KJ, Sonjak, V, Spendiff, S, Hepple, RT, Chevalier, S, Perez, A et al.. Mitochondrial Content, but Not Function, Is Altered With a Multimodal Resistance Training Protocol and Adequate Protein Intake in Leucine-Supplemented Pre/Frail Women. Front Nutr. 2020.7 619216 PMID:33553232

Lochmüller, H, Behin, A, Tournev, I, Tarnopolsky, M, Horváth, R, Pogoryelova, O et al.. Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy. J Neuromuscul Dis. 2021.8 (2)225-234 PMID:33459658

Gungor, S, Oktay, Y, Hiz, S, Aranguren-Ibáñez, Á, Kalafatcilar, I, Yaramis, A et al.. Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease. iScience. 2021.24 (1)101948 PMID:33458610

Kohlschmidt, N, Elbracht, M, Czech, A, Häusler, M, Phan, V, Töpf, A et al.. Molecular pathophysiology of human MICU1 deficiency. Neuropathol Appl Neurobiol. 2021.47 (6)840-855 PMID:33428302

Spendiff, S, Howarth, R, McMacken, G, Davey, T, Quinlan, K, O'Connor, E et al.. Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome. Front Mol Neurosci. 2020.13 594220 PMID:33390901

Della Marina, A, Wibbeler, E, Abicht, A, Kölbel, H, Lochmüller, H, Roos, A et al.. Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study. Front Hum Neurosci. 2020.14 560860 PMID:33364925

Vogt, G, El Choubassi, N, Herczegfalvi, Á, Kölbel, H, Lekaj, A, Schara, U et al.. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. J Inherit Metab Dis. 2021.44 (4)972-986 PMID:33320377

Hathazi, D, Griffin, H, Jennings, MJ, Giunta, M, Powell, C, Pearce, SF et al.. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. EMBO J. 2020.39 (23)e105364 PMID:33128823

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, Jewett, G, Benstead, T et al.. The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry. J Neuromuscul Dis. 2021.8 (1)53-61 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. 2021.28 (1)297-304 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. 2020.182 (10)2272-2283 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. 2021.48 (2)201-203 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. 2020.267 (12)3643-3649 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. 2020.267 (11)3235-3242 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. 2020.47 (6)810-815 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. 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

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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

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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

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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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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

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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

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

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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

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

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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

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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

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

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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...
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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...