Results 201 to 210 of about 15,103 (215)

Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery

Neuromuscular Disorders, 2012
Stella Mitrani-Rosenbaum
exaly  

Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype

, 2023
Mustafa Doğan, Ekrem Akbulut, Alper Gezdirici, Recep Eröz, Sevcan Tuğ Bozdoğan   +4 more
openalex   +1 more source

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

Neurotherapeutics, 2018
Nuria Carrillo-Carrasco, Marjan Huizing
exaly  

The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant

Molecular Neurobiology, 2016
Stella Mitrani-Rosenbaum
exaly  

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

Journal of Neurology, Neurosurgery and Psychiatry, 2014
Anna Cho, Satoru Noguchi, Ichizo Nishino
exaly  

Hereditary inclusion body myopathy in Turkish sisters with a novel mutation in the GNE gene

Neuromuscular Disorders, 2016
G. Diniz, Y. Secil, S. Ceylaner, F. Tokucoglu, S. Ture, M. Celebisoy, T. Kurt Incesu, G. Akhan   +7 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

Neuromuscular Disorders, 2018
Ichizo Nishino, Shahriar Nafissi, Hosein Shamshiri   +2 more
exaly  

P82 Myofibrillar myopathies (MFM), valosin containing protein (VCP) and glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) genes' mutations are not associated with sporadic inclusion body myositis (sIBM)

, 2012
Pedro Machado, James T. Hudson, Adam C. Miller, John Morrow, M. Parton, K. Bushby, Michael G. Hanna   +6 more
openalex   +1 more source

Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family

, 2010
Andrea Stober, A. Aleo, Valerio Kuhl, Antje Bornemann, Maggie C. Walter, Hanns Lochmüller, A. Lindner, Sabine Krause   +7 more
openalex   +1 more source

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

, 2003
Sabine Krause, Beate Schlotter‐Weigel, Maggie C. Walter, Hossein Najmabadi, Heinz Wiendl, Josef Müller‐Höcker, Wolfgang Müller‐Felber, D. Pongratz, Hanns Lochmüller   +8 more
openalex   +1 more source