Détail de l'auteur
Documents disponibles écrits par cet auteur (33)
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) | Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de recherche
Mitochondrial dysfunction underlying sporadic inclusion body myositis is ameliorated by the mitochondrial homing drug MA-5
Oikawa Y, Izumi R, Koide M, et al.
PLoS ONE, 2020, 15, 12
Hybrid Assistive Limb® for sporadic inclusion body myositis: A case series
Suzuki N, Soga T, Izumi R, et al.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2020, 81, p 92
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review
Samukawa M, Nakamura N, Hirano M, et al.
European neurology, 2020
The genetic profile of dysferlinopathy in a cohort of 209 cases: genotype-phenotype relationship and a hotspot on the inner DysF domain
Izumi R, Takahashi T, Suzuki N, et al.
Human mutation, 2020
AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy
Ono H, Suzuki N, Kanno SI, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2020
MGTX extension study longitudinally favors early thymectomy in non-thymomatous young-adult patients with AChR antibody-positive myasthenia gravis
Akaishi T, Motomura M, Aoki M, et al.
Annals of translational medicine, 2019, 7, s6
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
Hanna MG, Badrising UA, Benveniste O, et al.
The Lancet. Neurology, 2019, 18, 9, p 834
Social disadvantages associated with myasthenia gravis and its treatment: a multicentre cross-sectional study
Nagane Y, Murai H, Imai T, et al.
BMJ Open, 2017, 7, 2
Early fast-acting treatment strategy against generalized myasthenia gravis
Utsugisawa K, Nagane Y, Akaishi T, et al.
Muscle & Nerve, 2017, 55, 6, p 794
Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation
Izumi R, Warita H, Niihori T, et al.
Neurology. Genetics, 2015, 1, 3
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing
Izumi R, Izumi R, Niihori T, et al.
Neurology. Genetics, 2015, 1, 4
GNE myopathy associated with congenital thrombocytopenia: A report of two siblings
Izumi R, Niihori T, Suzuki N, et al.
Neuromuscular disorders : NMD, 2014, 24, 12, p 1068
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review
Kaneko K, Kuroda H, Izumi R, et al.
Neuromuscular disorders : NMD, 2014, 24, 7, p 634
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure
Izumi R, Niihori T, Aoki Y, et al.
Journal of human genetics, 2013, 58, 5, p. 259-266
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations
Mori-Yoshimura M, Monma K, Suzuki N, et al.
Journal of the neurological sciences, 2012, Epub 2012/11/07
Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study) : a multicentre, randomised, double-blind, placebo-controlled trial
Katsuno M, Banno H, Suzuki K, et al.
Lancet neurology, 2010, 9, 9, p 875
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene
Hattori H, Nagata E, Oya Y, et al.
European journal of neurology, 2007, 14, 11, p. 1288-1291
Distal anterior compartment myopathy with early ankle contractures
Saito H, Suzuki N, Ishiguro H, et al.
Muscle & Nerve, 2007, 36, 4, p. 525-527
A case of dysferlinopathy presenting choreic movements
Takahashi T, Aoki M, Imai T, et al.
Movement disorders, 2006, 21, 9, p. 1513-1515
Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes
Suzuki N, Aoki M, Mizuno H, et al.
Muscle & Nerve, 2005, 32, 6, p. 812-814
Expression profiling with progression of dystrophic change in dysferlin-deficient mice (SJL)
Suzuki N, Aoki M, Hinuma Y, et al.
Neuroscience research, 2005, 52, 1, p. 47-60
Novel dysferlin mutations and characteristic muscle atrophy in late-onset miyoshi myopathy
Suzuki N, Aoki M, Takahashi T, et al.
Muscle & Nerve, 2004, 29, p. 727-723
Dysferlin mutations in Japanese Miyoshi myopathy. Relationship to phenotype
Takahashi T, Aoki M, Tateyama M, et al.
Neurology, 2003, 60, p. 1799-1804
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
Nishino I, Noguchi S, Murayama K, et al.
Neurology, 2002, 59, p.1689-1693
