158 papers found
Novel Pompe disease phenotype: a treatment-related modified phenotype neglecting the brain
Erratum to: Lambert–Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer
Lambert–Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy: GMPPB Dystroglycanopathy
Differential expression and localization of Ankrd2 isoforms in human skeletal and cardiac muscles.
Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis.
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype
Long-term whole-body vibration training in two late-onset Pompe disease patients
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis
Ausbildung und berufliche Qualifikation von Erwachsenen mit Myotonen Dystrophien – eine fehlgeleitete Wahrnehmung durch die Facies myopathica?
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany.
Muscle histology changes after short term vibration training in healthy controls.
“Orbiting around” the orbital myositis: clinical features, differential diagnosis and therapy
Das Spektrum der Neuromyotonie: Klinik, Therapie und Langzeitverlauf
208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014
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