Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Ann Neurol
; 89(5): 967-978, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576057
6.
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
7.
Comparison of strength testing modalities in dysferlinopathy.
Muscle Nerve
; 66(2): 159-166, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506767
8.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle Nerve
; 65(5): 531-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179231
9.
Unique Lewy pathology in myotonic dystrophy type 1.
Neuropathology
; 42(2): 104-116, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35199386
10.
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
11.
Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study.
J Neurol Neurosurg Psychiatry
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38839274
12.
Quantitative Analysis of Surface Electromyography for Pediatric Neuromuscular Disorders.
Muscle Nerve
; 58(6): 824-827, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30019482
13.
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
J Hum Genet
; 62(2): 159-166, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27829678
14.
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
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.
Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations.
Muscle Nerve
; 59(2): E5-E7, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311943
19.
Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy).
Orphanet J Rare Dis
; 19(1): 182, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38689355
20.
Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.
J Neurol
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691167