Detalhe da pesquisa
1.
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Am J Hum Genet
; 109(3): 533-541, 2022 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35148830
2.
Multiomics analysis reveals serine catabolism as a potential therapeutic target for MELAS.
FASEB J
; 38(12): e23742, 2024 Jun 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38865203
3.
CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model.
Proc Natl Acad Sci U S A
; 119(41): e2208649119, 2022 10 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36191230
4.
Immunotherapeutic prospects and progress in bladder cancer.
J Cell Mol Med
; 28(5): e18101, 2024 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38165009
5.
Pathologic changes in neuronal intranuclear inclusion disease are linked to aberrant FUS interaction under hyperosmotic stress.
Neurobiol Dis
; 190: 106391, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38145851
6.
Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.
Neuropathology
; 44(2): 87-95, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37469134
7.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Am J Hum Genet
; 106(6): 793-804, 2020 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32413282
8.
Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy.
Eur J Neurol
; 30(2): 527-537, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36263606
9.
Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.
J Clin Lab Anal
; 37(21-22): e24987, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37968799
10.
Thigh MRI in antisynthetase syndrome, and comparisons with dermatomyositis and immune-mediated necrotizing myopathy.
Rheumatology (Oxford)
; 62(1): 310-320, 2022 12 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35512205
11.
Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.
BMC Neurol
; 22(1): 17, 2022 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34996390
12.
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Brain
; 144(6): 1819-1832, 2021 07 28.
Artigo
Inglês
| MEDLINE | ID: mdl-33693509
13.
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.
J Med Genet
; 58(11): 743-751, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32978268
14.
A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3.
Clin Neuropathol
; 41(5): 202-210, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35603692
15.
Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease.
Neuropathology
; 42(6): 505-511, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-35723632
16.
A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.
BMC Neurol
; 21(1): 402, 2021 Oct 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34666706
17.
Chronic inflammatory demyelinating polyneuropathy with hypoglossal nerve involvement and inverted Beevor's sign: case report.
BMC Neurol
; 21(1): 244, 2021 Jun 26.
Artigo
Inglês
| MEDLINE | ID: mdl-34172017
18.
Dissociation of axo-glial junction in anti-neurofascin 155 chronic inflammatory demyelinating polyneuropathy.
Clin Neuropathol
; 40(2): 87-92, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33261722
19.
Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2.
Clin Neuropathol
; 40(3): 142-149, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33155544
20.
PLEKHG5-related autosomal recessive lower motor neuron disease with dysmyelination in peripheral nerves.
Clin Neuropathol
; 40(6): 328-332, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34236308