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Auteur Aoki M |
Documents disponibles écrits par cet auteur (33)



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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
Revue : PLoS ONE, 15, 12 Titre : Mitochondrial dysfunction underlying sporadic inclusion body myositis is ameliorated by the mitochondrial homing drug MA-5 Type de document : Article Auteurs : Oikawa Y ; Izumi R ; Koide M ; Hagiwara Y ; Kanzaki M ; Suzuki N ; Kikuchi K ; Matsuhashi T ; Akiyama Y ; Ichijo M ; Watanabe S ; Toyohara T ; Suzuki T ; Mishima E ; Akiyama Y ; Ogata Y ; Suzuki C ; Hayashi H ; Kodama EN ; Hayashi KI ; Itoi E ; Aoki M ; Kure S ; Abe T Année de publication : 02/12/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33264289 / DOI : 10.1371/journal.pone.0231064
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33264289 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 81 Titre : Hybrid Assistive Limb® for sporadic inclusion body myositis: A case series Type de document : Article Auteurs : Suzuki N ; Soga T ; Izumi R ; Toyoshima M ; Shibasaki M ; Sato I ; Kudo Y ; Aoki M ; Kato M Editeur : Scotland Année de publication : 11/2020 Pages : p 92 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33222978 / DOI : 10.1016/j.jocn.2020.09.031
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33222978 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : European neurology Titre : Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review Type de document : Article Auteurs : Samukawa M ; Nakamura N ; Hirano M ; Morikawa M ; Sakata H ; Nishino I ; Izumi R ; Suzuki N ; Kuroda H ; Shiga K ; Saigoh K ; Aoki M ; Kusunoki S Editeur : Switzerland Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32564019 / DOI : 10.1159/000508346
N° Profil MNM : 2020062 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32564019 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Human mutation Titre : The genetic profile of dysferlinopathy in a cohort of 209 cases: genotype-phenotype relationship and a hotspot on the inner DysF domain Type de document : Article Auteurs : Izumi R ; Takahashi T ; Suzuki N ; Niihori T ; Ono H ; Nakamura N ; Katada S ; Kato M ; Warita H ; Tateyama M ; Aoki Y ; Aoki M Editeur : United States Année de publication : 05/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32400077 / DOI : 10.1002/humu.24036
N° Profil MNM : 2020052 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32400077 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Molecular therapy : the journal of the American Society of Gene Therapy Titre : AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy Type de document : Article Auteurs : Ono H ; Suzuki N ; Kanno SI ; Kawahara G ; Izumi R ; Takahashi T ; Kitajima Y ; Osana S ; Nakamura N ; Akiyama T ; Ikeda K ; Shijo T ; Mitsuzawa S ; Nagatomi R ; Araki N ; Yasui A ; Warita H ; Hayashi YK ; Miyake K ; Aoki M Editeur : United States Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : culture cellulaire ; dysferline (maladie neuromusculaire liée à) ; dystrophie musculaire ; physiopathologie ; poisson zèbre ; RECHERCHE ; souris Pubmed / DOI : Pubmed : 32087766 / DOI : 10.1016/j.ymthe.2020.02.006
N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32087766 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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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
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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
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Early fast-acting treatment strategy against generalized myasthenia gravis
Utsugisawa K, Nagane Y, Akaishi T, et al.
Muscle & Nerve, 2017, 55, 6, p 794
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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
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Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing
Izumi R, Izumi R, Niihori T, et al.
Neurology. Genetics, 2015, 1, 4
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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
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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
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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
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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
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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
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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
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Distal anterior compartment myopathy with early ankle contractures
Saito H, Suzuki N, Ishiguro H, et al.
Muscle & Nerve, 2007, 36, 4, p. 525-527
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A case of dysferlinopathy presenting choreic movements
Takahashi T, Aoki M, Imai T, et al.
Movement disorders, 2006, 21, 9, p. 1513-1515
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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
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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
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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
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Dysferlin mutations in Japanese Miyoshi myopathy. Relationship to phenotype
Takahashi T, Aoki M, Tateyama M, et al.
Neurology, 2003, 60, p. 1799-1804
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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
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