Detalhe da pesquisa
1.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain
; 146(5): 2003-2015, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315648
2.
Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease.
Neurobiol Dis
; 177: 105989, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36621630
3.
Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
Angiogenesis
; 26(1): 37-52, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35902510
4.
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder.
J Hum Genet
; 68(3): 169-174, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36670296
5.
Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis.
Ann Neurol
; 91(3): 317-328, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064929
6.
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.
Cerebellum
; 22(6): 1308-1311, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36227410
7.
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.
Epilepsia
; 64 Suppl 1: S31-S38, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36622139
8.
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.
J Peripher Nerv Syst
; 28(3): 513-517, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170477
9.
Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.
J Peripher Nerv Syst
; 28(3): 518-521, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249095
10.
A clinical and genetic study of SPG31 in Japan.
J Hum Genet
; 67(7): 421-425, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132160
11.
Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.
J Hum Genet
; 67(2): 119-121, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34483340
12.
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.
J Hum Genet
; 67(6): 353-362, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027655
13.
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
J Hum Genet
; 67(7): 399-403, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091664
14.
TDP-43 Proteinopathy Presenting with Typical Symptoms of Parkinson's Disease.
Mov Disord
; 37(7): 1561-1563, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35531755
15.
Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population.
Cerebellum
; 21(6): 954-962, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34845661
16.
Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease.
Cerebellum
; 2022 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36097244
17.
Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.
Am J Med Genet A
; 188(9): 2777-2782, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543214
18.
Expanded clinical spectrum of oculopharyngodistal myopathy type 1.
Muscle Nerve
; 66(6): 679-685, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36052448
19.
Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report.
BMC Neurol
; 22(1): 406, 2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329418
20.
An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex.
Neurol Sci
; 43(2): 1423-1425, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34779964