Detalhe da pesquisa
1.
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.
Cerebellum
; 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38324175
2.
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.
Hum Genet
; 142(1): 59-71, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36048237
3.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Am J Hum Genet
; 106(6): 793-804, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413282
4.
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
Acta Neuropathol
; 145(2): 235-255, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36512060
5.
Factors influencing the decision to introduce alternative nutrition in patients with Duchenne muscular dystrophy.
Muscle Nerve
; 68(5): 737-742, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37688475
6.
Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
J Transl Med
; 20(1): 517, 2022 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348371
7.
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.
Neuropathol Appl Neurobiol
; 48(3): e12787, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927285
8.
Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients.
Muscle Nerve
; 65(3): 284-290, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716939
9.
Unique Lewy pathology in myotonic dystrophy type 1.
Neuropathology
; 42(2): 104-116, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35199386
10.
The nSMase2/Smpd3 gene modulates the severity of muscular dystrophy and the emotional stress response in mdx mice.
BMC Med
; 18(1): 343, 2020 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33208172
11.
Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report.
J Hum Genet
; 65(10): 903-909, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504006
12.
Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
J Peripher Nerv Syst
; 25(2): 125-131, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32108980
13.
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.
Rheumatology (Oxford)
; 56(2): 287-293, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27818386
14.
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
Ann Neurol
; 79(4): 659-72, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26991897
15.
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
Muscle Nerve
; 55(4): 465-469, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27500519
16.
Respiratory and cardiac function in japanese patients with dysferlinopathy.
Muscle Nerve
; 53(3): 394-401, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26088049
17.
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
J Neurol Neurosurg Psychiatry
; 86(5): 483-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25253871
18.
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.
J Hum Genet
; 59(3): 129-33, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24430576
19.
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
J Neurol Neurosurg Psychiatry
; 85(8): 914-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24027297
20.
Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.
Environ Health Prev Med
; 19(6): 452-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25150707