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Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern
Unidad Neuromuscular, Departamento Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago, ChileDepart...
Refractory Morvan syndrome responsive to rituximab: A case report and review of the literature
Somerville ER Sen A. Morvan just a syndrome…!.Lancet North Am Ed. 2017; 389: 1368View in Article ...
Rituximab in chronic immune mediated neuropathies: a systematic review
Briani C Cocito D Campagnolo M Doneddu PE Nobile-Orazio E. Update on therapy of chronic immune-mediated neuropathies.Neuro...
The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever
New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early interve...
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)
1. IntroductionMalignant hyperthermia (MH) is a potentially life-threatening pharmacogenetic reaction to volatile anesthet...
264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021
Hamilton G. Gillingwater T.H. Spinal muscular atrophy: going beyond the motor neuron.Trends Mol Med. 2013; 19: 40-50View ...
Rituximab in myasthenia gravis: Efficacy, associated infections and risk of induced hypogammaglobulinemia
Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau; Department of Medicine, Univer...
Respiratory muscle function in patients with nemaline myopathy
SpirometryFVC (L)1.1 [1.0-2.3]*Significant difference in comparison to patients with childhood-onset NM with slowness. NM,...
Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy
Villar-Quiles RN von der Hagen M Metay C Gonzalez V Donkervoort S Bertini E et al.The clinical, histologic, and genotypic ...
Novel association of gluten sensitivity with immune-mediated neuromuscular syndrome in a dog
Gluten-related disorders in humans comprise different entities, including coeliac disease. Patients typica...
Two tales of LPIN1 deficiency: From fatal rhabdomyolysis to favorable outcome of acute compartment syndrome
LPIN1 deficiency is an autosomal recessive disease caused by biallelic mutations in LPIN1, where impaired ...
Cognitive assessment in patients with myotonic dystrophy type 2
1. IntroductionMyotonic dystrophy type 2 (DM2) is an autosomal dominant, late-onset, slowly progressive, disease [1Clinica...
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A validated WAIS-IV short-form to estimate intellectual functioning in Myotonic Dystrophy type-1
1. IntroductionMyotonic Dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults and is transmitted ...
CLINICAL AND GENETIC CHARACTERISTICS OF EMERY-DREIFUSS MUSCULAR DYSTROPHY PATIENTS FROM TURKEY: 30 YEARS LONGITUDINAL FOLLOW-UP STUDY
Emery-Dreifuss syndrome.J Med Genet. 26: 637-641Unusual type of benign x-linked muscular dystrophy.J Neurol Neurosurg Psyc...
Accuracy of Muscle Fasciculations for the Diagnosis of Later-Onset Spinal Muscle Atrophy
Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilMedical Gen...
Glycogen accumulation in GNE myopathy
Figure 1Muscle biopsies: Hematoxylin and eosin-stained section of the gluteus medius of Patient 1 shows...
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