Neuromuscular Disorders
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Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Upper body involvement in GNE myopathy assessed by muscle imaging

2022 ◽  
Author(s):  
E. Torchia ◽  
M. Lucchini ◽  
S. Bortolani ◽  
M. Monforte ◽  
M. Garibaldi ◽  
...  
Keyword(s):  
Upper Body ◽  
Gne Myopathy

Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis

2022 ◽  
Author(s):  
Maria Gavriilaki ◽  
Maria Moschou ◽  
Vasileios Papaliagkas ◽  
Konstantinos Notas ◽  
Evangelia Chatzikyriakou ◽  
...  
Keyword(s):  
Systematic Review ◽  
Spinal Muscular Atrophy ◽  
Disease Progression ◽  
Muscular Atrophy ◽  
Meta Analysis ◽  
Adolescents And Adults

Hypotonic Infant with PURA Syndrome-related Channelopathy Successfully Treated with Pyridostigmine

2022 ◽  
Author(s):  
Rita Wyrebek ◽  
Mara DiBartolomeo ◽  
Sandra Brooks ◽  
Thomas Geller ◽  
Melissa Crenshaw ◽  
...  

scholarly journals Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease

2022 ◽  
Author(s):  
Maren Winkler ◽  
Christina von Landenberg ◽  
Katharina Kuchenbecker ◽  
Jens Reimann ◽  
Cornelia Kornblum
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Long Term Effects ◽  
Enzyme Replacement ◽  
Elderly Cohort

scholarly journals The 2022 version of the gene table of neuromuscular disorders (nuclear genome)

2021 ◽  
Vol 31 (12) ◽  
pp. 1313-1357
Author(s):  
Enzo Cohen ◽  
Gisèle Bonne ◽  
François Rivier ◽  
Dalil Hamroun
Keyword(s):  
Neuromuscular Disorders ◽  
Nuclear Genome ◽  
Gene Table

Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care

2021 ◽  
Author(s):  
Deepak Menon ◽  
Hernan D. Gonorazky ◽  
James J. Dowling ◽  
Laura McAdam ◽  
Tasjeel Ansari ◽  
...  
Keyword(s):  
Neuromuscular Disorders ◽  
Clinical Profile ◽  
Adult Care

DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism

2021 ◽  
Author(s):  
Akatsuki Kubota ◽  
Hiroyuki Ishiura ◽  
Kristine Joyce Linay Porto ◽  
Masaki Tanaka ◽  
Jun Mitsui ◽  
...  
Keyword(s):  
Somatic Mosaicism ◽  
Genomic Rearrangement ◽  
Exon 2 ◽  
Complex Genomic Rearrangement
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