Lochmüller Lab

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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Manis, C, Casula, M, Roos, A, Hentschel, A, Vorgerd, M, Pogoryelova, O et al.. Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy. Molecules. 2024.29 (21) PMID:39519852

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

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