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| 37923938 | Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. | J Neurol | 2024 |
| 37721175 | Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. | Brain | 2024 |
| 36627228 | Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy. | J Neuroimaging | 2023 |
| 37963467 | The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease. | Med | 2023 |
| 37503136 | The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease. | medRxiv | 2023 |
| 37926637 | Emerging and established biomarkers of oculopharyngeal muscular dystrophy. | Neuromuscul Disord | 2023 |
| 37766827 | DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature. | Mol Syndromol | 2023 |
| 35857854 | Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. | Brain | 2023 |
| 37212067 | Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models. | J Neuromuscul Dis | 2023 |
| 37077559 | Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor Neuropathy. | Neurol Genet | 2023 |
| 37239850 | Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease. | Int J Mol Sci | 2023 |
| 37163662 | Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. | Brain | 2023 |
| 36996813 | Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. | Am J Hum Genet | 2023 |
| 36692708 | A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. | Mol Neurobiol | 2023 |
| 36515815 | Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review. | Pharmacoeconomics | 2023 |
| 36609117 | 260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands. | Neuromuscul Disord | 2023 |
| 36869887 | Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment. | J Neurol | 2023 |
| 36462961 | Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD). | Neuromuscul Disord | 2023 |
| 36634413 | 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 |
| 36565133 | Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study. | J Neuromuscul Dis | 2023 |
| 36941504 | 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 |
| 36864049 | MYTHO is a novel regulator of skeletal muscle autophagy and integrity. | Nat Commun | 2023 |
| 36823193 | TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. | Nat Commun | 2023 |
| 36757831 | The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. | Brain | 2023 |
| 36892629 | Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1. | J Neurol | 2023 |
| 34599609 | 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 |
| 35373813 | Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. | Brain | 2022 |
| 35463910 | Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology. | Front Pediatr | 2022 |
| 35722118 | Case Report: Severe Peripartum Cardiac Disease in Myotonic Dystrophy Type 1. | Front Cardiovasc Med | 2022 |
| 35393236 | Serum miRNAs as biomarkers for the rare types of muscular dystrophy. | Neuromuscul Disord | 2022 |
| 35388741 | Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights. | RNA Biol | 2022 |
| 36408368 | A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. | HGG Adv | 2022 |
| 36046397 | 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 |
| 36309462 | Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature. | Neuromuscul Disord | 2022 |
| 35948834 | Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons. | Acta Neuropathol | 2022 |
| 35318785 | Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy. | Eur J Neurol | 2022 |
| 35101074 | Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. | Orphanet J Rare Dis | 2022 |
| 35148379 | NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. | Brain | 2022 |
| 34932651 | Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis. | Arq Neuropsiquiatr | 2022 |
| 34791078 | High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. | Brain | 2022 |
| 34519148 | 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 |
| 34633329 | Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation. | J Neuromuscul Dis | 2022 |
| 34749429 | Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. | Eur J Neurol | 2022 |
| 32909314 | Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies. | Eur J Neurol | 2021 |
| 33743771 | Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders. | Orphanet J Rare Dis | 2021 |
| 33576939 | Costs of Illness of Spinal Muscular Atrophy: A Systematic Review. | Appl Health Econ Health Policy | 2021 |
| 33792664 | INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. | Brain | 2021 |
| 33682722 | Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients. | J Neuromuscul Dis | 2021 |
| 33867362 | A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method. | J Neuromuscul Dis | 2021 |
| 33843694 | 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 |