médecine/sciences, 2017 Malgre un essai de phase II prometteur, l’acide sialique a liberation prolongee n’a pas confirme son efficacite sur une plus large population de patients. Une deception certaine, mais d’autres pistes therapeutiques restent ouvertes comme evoque lors des 23e Journees Neuromusculaires a Marseille les 6 et 7 septembre derniers.
Sylvie Marion +2 more
openaire +1 more source
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion. [PDF]
Neuromuscul Disord, 2018 Pogoryelova O +10 more
europepmc +2 more sources
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]
, 2020 ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A +12 more
core +1 more source
In vivo and in vitro genome editing to explore GNE functions
Frontiers in Genome Editing, 2022 GNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene.
Nili Ilouz +6 more
doaj +1 more source
eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy [PDF]
Genetics in Medicine, 2022 Jessica Jang +6 more
openalex +2 more sources
GNE – related severe congenital macrothrombocytopenia: A case report and literature review
Journal of Applied Hematology, 2022 Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance.
Muhammad Matloob Alam +6 more
doaj +1 more source
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges. [PDF]
Neurotherapeutics, 2018 GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is caused by mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid ...
Carrillo N, Malicdan MC, Huizing M.
europepmc +4 more sources
Mutation Update forGNEGene Variants Associated with GNE Myopathy [PDF]
Human Mutation, 2014 The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not
Frank V, Celeste +9 more
openaire +2 more sources
GNE myopathy: New name and new mutation nomenclature [PDF]
Neuromuscular Disorders, 2014 The recessively inherited, adult onset, quadriceps sparing myopathy with a predilection for distal muscles has received multiple historic names. The disorder was described in 1981 in Japanese patients and termed Nonaka Distal Myopathy [1], later commonly referred to as Distal Myopathy with Rimmed Vacuoles (DMRV) (OMIM#605820). In 1984, the disorder was
Marjan Huizing +7 more
openalex +3 more sources
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]
, 2009 Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel +8 more
core +1 more source