Publications
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
Kraft, F, Rodriguez-Aliaga, P, Yuan, W, Franken, L, Zajt, K, Hasan, D et al.. Brain malformations and seizures by impaired chaperonin function of TRiC. Science. 2024.386 (6721)516-525 PMID:39480921
Demidov, G, Yaldiz, B, Garcia-Pelaez, J, de Boer, E, Schuermans, N, Van de Vondel, L et al.. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. NPJ Genom Med. 2024.9 (1)49 PMID:39461972
Holland, SH, Carmona-Martinez, R, O'Connor, K, O'Neil, D, Roos, A, Spendiff, S et al.. A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ). Biomolecules. 2024.14 (10) PMID:39456185
Weiß, C, Becker, LL, Friese, J, Blaschek, A, Hahn, A, Illsinger, S et al.. Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study. Lancet Reg Health Eur. 2024.47 101092 PMID:39434961
Landfeldt, E, Alemán, A, Abner, S, Zhang, R, Werner, C, Tomazos, I et al.. Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading. Orphanet J Rare Dis. 2024.19 (1)359 PMID:39342355
Estévez-Arias, B, Matalonga, L, Yubero, D, Polavarapu, K, Codina, A, Ortez, C et al.. Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur J Hum Genet. 2024. PMID:39333429
Johansson, LF, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C et al.. An interconnected data infrastructure to support large-scale rare disease research. Gigascience. 2024.13 PMID:39302238
Cooles, F, Vidal-Pedrola, G, Naamane, N, Pratt, A, Barron-Millar, B, Anderson, A et al.. Scientific Business Abstracts. QJM. 2024. PMID:39298287
Falabella, M, Pizzamiglio, C, Tabara, LC, Munro, B, Abdel-Hamid, MS, Sonmezler, E et al.. Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome. Brain. 2024. PMID:39279645
Baskar, D, Reddy, N, Preethish-Kumar, V, Polavarapu, K, Nishadham, V, Vengalil, S et al.. GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort. J Neuromuscul Dis. 2024.11 (5)959-968 PMID:39213088
Roos, A, Häusler, M, Kollipara, L, Topf, A, Preusse, C, Stucka, R et al.. HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy. J Neuromuscul Dis. 2024.11 (5)1131-1137 PMID:39121134
Daniel, E, Smith, IC, Ly, V, Bourque, PR, Breiner, A, Lochmuller, H et al.. Direct and indirect costs of idiopathic inflammatory myopathies in adults: A systematic review. PLoS One. 2024.19 (7)e0307144 PMID:39058702
Kastreva, K, Chamova, T, Blagoeva, S, Bichev, S, Mihaylova, V, Meyer, S et al.. Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit. J Neuromuscul Dis. 2024.11 (5)1011-1020 PMID:38995797
Natera-de Benito, D, Pugliese, A, Polavarapu, K, Guergueltcheva, V, Tournev, I, Todorova, A et al.. Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases. Pediatr Neurol. 2024.157 5-13 PMID:38833907
Olimpio, C, Paramonov, I, Matalonga, L, Laurie, S, Schon, K, Polavarapu, K et al.. Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease. J Neuromuscul Dis. 2024.11 (4)767-775 PMID:38759022
Steyaert, W, Sagath, L, Demidov, G, Yépez, VA, Esteve-Codina, A, Gagneur, J et al.. Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv. 2024. PMID:38746462
Schirinzi, E, Bochicchio, MA, Lochmüller, H, Vissing, J, Jordie-Diaz-Manerae,, Evangelista, T et al.. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021. J Neuromuscul Dis. 2024. PMID:38728200
Polavarapu, K, O'Neil, D, Thompson, R, Spendiff, S, Nandeesh, B, Vengalil, S et al.. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Neuromuscul Disord. 2024.39 10-18 PMID:38669730
Landfeldt, E, Alemán, A, Abner, S, Zhang, R, Werner, C, Tomazos, I et al.. Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis. J Neuromuscul Dis. 2024.11 (3)579-612 PMID:38669554
Tawil, R, Wagner, KR, Hamel, JI, Leung, DG, Statland, JM, Wang, LH et al.. Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial. Lancet Neurol. 2024.23 (5)477-486 PMID:38631764
Schwartz, O, Vill, K, Pfaffenlehner, M, Behrens, M, Weiß, C, Johannsen, J et al.. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA Pediatr. 2024.178 (6)540-547 PMID:38587854
Della Marina, A, Hentschel, A, Czech, A, Schara-Schmidt, U, Preusse, C, Laner, A et al.. Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes. J Neuromuscul Dis. 2024.11 (3)625-645 PMID:38578900
Ferreira, T, Polavarapu, K, Olimpio, C, Paramonov, I, Lochmüller, H, Horvath, R et al.. Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. J Neurol. 2024.271 (6)3546-3553 PMID:38549004
Estévez-Arias, B, Matalonga, L, Martorell, L, Codina, A, Ortez, C, Carrera-García, L et al.. Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy. J Neuromuscul Dis. 2024.11 (3)647-653 PMID:38489196
Chelban, V, Aksnes, H, Maroofian, R, LaMonica, LC, Seabra, L, Siggervåg, A et al.. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nat Commun. 2024.15 (1)2269 PMID:38480682
Núñez-Carpintero, I, Rigau, M, Bosio, M, O'Connor, E, Spendiff, S, Azuma, Y et al.. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nat Commun. 2024.15 (1)1227 PMID:38418480
Vill, K, Tacke, M, König, A, Baumann, M, Baumgartner, M, Steinbach, M et al.. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2. J Neurol. 2024.271 (5)2787-2797 PMID:38409538
Weisburd, B, Sharma, R, Pata, V, Reimand, T, Ganesh, VS, Austin-Tse, C et al.. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv. 2024. PMID:38405995
Günther, R, Wurster, CD, Brakemeier, S, Osmanovic, A, Schreiber-Katz, O, Petri, S et al.. Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study. Lancet Reg Health Eur. 2024.39 100862 PMID:38361750
Atalaia, A, Wandrei, D, Lalout, N, Thompson, R, Tassoni, A, 't Hoen, PAC et al.. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders. Orphanet J Rare Dis. 2024.19 (1)66 PMID:38355534
Warman-Chardon, J, Hartley, T, Marshall, AE, McBride, A, Couse, M, Macdonald, W et al.. Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurol Genet. 2023.9 (5)e200088 PMID:38235364
Baskar, D, Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S, Töpf, A et al.. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant. Neurol Genet. 2024.10 (1)e200122 PMID:38229919
Lochmüller, H, Bönnemann, CG. The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research. J Neuromuscul Dis. 2024.11 (1)1-3 PMID:38189763
Landfeldt, E, Phung, K, Zaman, F, Åström, E, Abner, S, Lochmüller, H et al.. Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence. Neurology. 2024.102 (2)e207948 PMID:38165327
Esapa, CT, McIlhinney, RAJ, Waite, AJ, Benson, MA, Mirzayan, J, Piko, H et al.. Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies. Front Mol Biosci. 2023.10 1279700 PMID:38161385
Baranello, G, Neurodevelopment in SMA Working Group. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy. Eur J Paediatr Neurol. 2024.48 67-68 PMID:38043384
Landfeldt, E, Aleman, A, Abner, S, Zhang, R, Werner, C, Tomazos, I et al.. Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading. J Neuromuscul Dis. 2024.11 (1)25-57 PMID:37980679
McMillan, HJ, Lochmüller, H. Sustained clinical benefit following systemic gene replacement therapy in Duchenne muscular dystrophy. Muscle Nerve. 2024.69 (1)4-6 PMID:37969074
Carmody, LC, Gargano, MA, Toro, S, Vasilevsky, NA, Adam, MP, Blau, H et al.. The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease. Med. 2023.4 (12)913-927.e3 PMID:37963467
Smith, IC, Chakraborty, S, Bourque, PR, Sampaio, ML, Melkus, G, Lochmüller, H et al.. Emerging and established biomarkers of oculopharyngeal muscular dystrophy. Neuromuscul Disord. 2023.33 (11)824-834 PMID:37926637
Pugliese, A, Della Marina, A, de Paula Estephan, E, Zanoteli, E, Roos, A, Schara-Schmidt, U et al.. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. J Neurol. 2024.271 (3)1331-1341 PMID:37923938
Özsoy, Ö, Cinleti, T, Günay, Ç, Sarıkaya Uzan, G, Yeşilmen, MC, Lochmüller, H et al.. DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature. Mol Syndromol. 2023.14 (4)322-330 PMID:37766827
Kekou, K, Svingou, M, Vogiatzakis, N, Nitsa, E, Veltra, D, Marinakis, NM et al.. Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity. Expert Rev Mol Diagn. 2023.23 (11)999-1010 PMID:37754746
Polavarapu, K, Sunitha, B, Töpf, A, Preethish-Kumar, V, Thompson, R, Vengalil, S et al.. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. Brain. 2024.147 (1)281-296 PMID:37721175
Carmody, LC, Gargano, MA, Toro, S, Vasilevsky, NA, Adam, MP, Blau, H et al.. The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease. medRxiv. 2023. PMID:37503136
Walter, MC, Laforêt, P, van der Pol, WL, Pegoraro, E, 254th ENMC Workshop Study Group. 254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 - 30 January 2022. Neuromuscul Disord. 2023.33 (6)511-522 PMID:37245491
O'Connor, K, Spendiff, S, Lochmüller, H, Horvath, R. Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease. Int J Mol Sci. 2023.24 (10) PMID:37239850
Pugliese, A, Holland, SH, Rodolico, C, Lochmüller, H, Spendiff, S. Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models. J Neuromuscul Dis. 2023.10 (5)731-759 PMID:37212067
Roos, A, van der Ven, PFM, Alrohaif, H, Kölbel, H, Heil, L, Della Marina, A et al.. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. Brain. 2023.146 (10)4200-4216 PMID:37163662
Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J et al.. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing. Hum Genomics. 2023.17 (1)39 PMID:37138343
Smith, IC, Pileggi, CA, Wang, Y, Kernohan, K, Hartley, T, McMillan, HJ et al.. Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy. Neurol Genet. 2023.9 (1)e200048 PMID:37077559
Jackson, A, Lin, SJ, Jones, EA, Chandler, KE, Orr, D, Moss, C et al.. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG Adv. 2023.4 (2)100186 PMID:37009414
Lecca, M, Pehlivan, D, Suñer, DH, Weiss, K, Coste, T, Zweier, M et al.. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023.110 (4)681-690 PMID:36996813
Hentschel, A, Meyer, N, Kohlschmidt, N, Groß, C, Sickmann, A, Schara-Schmidt, U et al.. Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023.60 (7)4164 PMID:36941504
Nguyen, CDL, Jimenez-Moreno, AC, Merker, M, Bowers, CJ, Nikolenko, N, Hentschel, A et al.. Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1. J Neurol. 2023.270 (6)3138-3158 PMID:36892629
McMacken, G, Whittaker, RG, Wake, R, Lochmuller, H, Horvath, R. Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment. J Neurol. 2023.270 (6)3112-3119 PMID:36869887
Leduc-Gaudet, JP, Franco-Romero, A, Cefis, M, Moamer, A, Broering, FE, Milan, G et al.. MYTHO is a novel regulator of skeletal muscle autophagy and integrity. Nat Commun. 2023.14 (1)1199 PMID:36864049
Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH et al.. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023.14 (1)1009 PMID:36823193
Saffari, A, Lau, T, Tajsharghi, H, Karimiani, EG, Kariminejad, A, Efthymiou, S et al.. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023.146 (8)3273-3288 PMID:36757831
Hentschel, A, Meyer, N, Kohlschmidt, N, Groß, C, Sickmann, A, Schara-Schmidt, U et al.. A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023.60 (5)2602-2618 PMID:36692708
Denommé-Pichon, AS, Matalonga, L, de Boer, E, Jackson, A, Benetti, E, Banka, S et al.. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genet Med. 2023.25 (4)100018 PMID:36681873
Rodríguez Cruz, PM, Ravenscroft, G, Natera, D, Carr, A, Manzur, A, Liu, WW et al.. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. Neuromuscul Disord. 2023.33 (2)161-168 PMID:36634413
Danko, V, Jüngert, J, Schuessler, S, Buehler, A, Klett, D, Federle, A et al.. Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy. J Neuroimaging. 2023.33 (3)393-403 PMID:36627228
Spendiff, S, Dong, Y, Maggi, L, Rodríguez Cruz, PM, Beeson, D, Lochmüller, H et al.. 260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands. Neuromuscul Disord. 2023.33 (9)111-118 PMID:36609117
Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Wenzel, F, Stein, S et al.. Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study. J Neuromuscul Dis. 2023.10 (1)29-40 PMID:36565133
Landfeldt, E, Abner, S, Pechmann, A, Sejersen, T, McMillan, HJ, Lochmüller, H et al.. Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review. Pharmacoeconomics. 2023.41 (3)275-293 PMID:36515815
Melkus, G, Sampaio, ML, Smith, IC, Rakhra, KS, Bourque, PR, Breiner, A et al.. Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD). Neuromuscul Disord. 2023.33 (1)24-31 PMID:36462961
Snijders Blok, L, Verseput, J, Rots, D, Venselaar, H, Innes, AM, Stumpel, C et al.. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. HGG Adv. 2023.4 (1)100157 PMID:36408368
van Cruchten, RTP, van As, D, Glennon, JC, van Engelen, BGM, 't Hoen, PAC, OPTIMISTIC consortium et al.. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. BMC Med. 2022.20 (1)395 PMID:36352383
Karimzadeh, P, Najmabadi, H, Lochmuller, H, Babaee, M, Dehdahsi, S, Miryounesi, M et al.. Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature. Neuromuscul Disord. 2022.32 (10)806-810 PMID:36309462
Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Wenzel, F, Stein, S et al.. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study. Orphanet J Rare Dis. 2022.17 (1)384 PMID:36274155
Maharaj, M, Skidmore, DL, Croul, SE, Brake, DJ, Lochmuller, H. Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation. Mol Genet Metab Rep. 2022.32 100896 PMID:36046397
Jacquier, A, Risson, V, Simonet, T, Roussange, F, Lacoste, N, Ribault, S et al.. Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons. Acta Neuropathol. 2022.144 (4)707-731 PMID:35948834
Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Stein, S, Vogt, S et al.. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain. 2023.146 (2)668-677 PMID:35857854
Besant, G, Bourque, PR, Smith, IC, Chih, S, Lamacie, MM, Breiner, A et al.. Case Report: Severe Peripartum Cardiac Disease in Myotonic Dystrophy Type 1. Front Cardiovasc Med. 2022.9 899606 PMID:35722118
Jacobsen, JOB, Baudis, M, Baynam, GS, Beckmann, JS, Beltran, S, Buske, OJ et al.. The GA4GH Phenopacket schema defines a computable representation of clinical data. Nat Biotechnol. 2022.40 (6)817-820 PMID:35705716
Petković Ramadža, D, Kuhtić, I, Žarković, K, Lochmüller, H, Čavka, M, Kovač, I et al.. Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology. Front Pediatr. 2022.10 847445 PMID:35463910
Koutsoulidou, A, Koutalianos, D, Georgiou, K, Kakouri, AC, Oulas, A, Tomazou, M et al.. Serum miRNAs as biomarkers for the rare types of muscular dystrophy. Neuromuscul Disord. 2022.32 (4)332-346 PMID:35393236
Kakouri, AC, Koutalianos, D, Koutsoulidou, A, Oulas, A, Tomazou, M, Nikolenko, N et al.. Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights. RNA Biol. 2022.19 (1)507-518 PMID:35388741
van der Knoop, MM, Maroofian, R, Fukata, Y, van Ierland, Y, Karimiani, EG, Lehesjoki, AE et al.. Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. Brain. 2022.145 (7)2301-2312 PMID:35373813
Schorling, DC, Kölbel, H, Hentschel, A, Pechmann, A, Meyer, N, Wirth, B et al.. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy. Eur J Neurol. 2022.29 (7)2084-2096 PMID:35318785
Laurie, S, Piscia, D, Matalonga, L, Corvó, A, Fernández-Callejo, M, Garcia-Linares, C et al.. The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Hum Mutat. 2022.43 (6)717-733 PMID:35178824
Jennings, MJ, Kagiava, A, Vendredy, L, Spaulding, EL, Stavrou, M, Hathazi, D et al.. NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. Brain. 2022.145 (11)3999-4015 PMID:35148379
Arlt, A, Kohlschmidt, N, Hentschel, A, Bartels, E, Groß, C, Töpf, A et al.. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. Orphanet J Rare Dis. 2022.17 (1)29 PMID:35101074
Lam, DD, Williams, RH, Lujan, E, Tanabe, K, Huber, G, Saw, NL et al.. Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation. J Neurosci. 2022.42 (8)1557-1573 PMID:34965974
Lorenzoni, PJ, Ducci, RD, Arndt, RC, Hrysay, NMC, Fustes, OJH, Töpf, A et al.. Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis. Arq Neuropsiquiatr. 2022.80 (1)69-74 PMID:34932651
Herbst, R, Koneczny, I, Lochmüller, H, Strochlic, L. Editorial: Molecular Mechanisms Underlying Assembly and Maintenance of the Neuromuscular Junction. Front Mol Neurosci. 2021.14 797832 PMID:34880729
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
Hiz Kurul, S, 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. 2022.145 (4)1507-1518 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. 2022.29 (3)833-842 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. 2022.9 (1)95-109 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. 2022.256 (1)93-107 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. 2022.188 (1)283-291 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
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
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
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. 2019.6 (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. 2019.92 (5)e461-e474 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
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
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