Ichizo Nishino
scholar.google.com
0000-0001-9452-112X
National Institute of Neuroscience, National Center of Neurology and Psychiatry
310 papers found
Refreshing results…
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in α-dystroglycanopathies
Emerin-Lacking Mice Show Minimal Motor and Cardiac Dysfunctions with Nuclear-Associated Vacuoles
Thymidine Phosphorylase Gene Mutations Cause Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
NovelLamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease
Mutation analysis of theGNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand
Expression of Myoferlin in Skeletal Muscles of Patients with Dysferlinopathy
Early onset distal muscular dystrophy with normal dysferlin expression
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
A new congenital form of X-linked autophagic vacuolar myopathy
Gene expression analyses in X-linked myotubular myopathy
Unifying Nomenclature for the Isoforms of the Lysosomal Membrane Protein LAMP-2
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene
Vascular Involvement in a Patient with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
Proteolysis of β-dystroglycan in muscular diseases
Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy
Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240kb deletion in Xq28 without male hypogenitalism
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman
Thymidine Phosphorylase Deficiency Causes MNGIE: An Autosomal Recessive Mitochondrial Disorder
Dysferlinopathy associated with rigid spine syndrome
Missing publications? Search for publications with a matching author name.