Detalhe da pesquisa
1.
Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules.
Cell
; 186(4): 803-820.e25, 2023 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36738734
2.
Basal forebrain mediates prosocial behavior via disinhibition of midbrain dopamine neurons.
Proc Natl Acad Sci U S A
; 118(7)2021 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33563763
3.
Application Value of Serum Neurofilament Light Protein for Disease Staging in Huntington's Disease.
Mov Disord
; 38(7): 1307-1315, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37148558
4.
CAT Interruption as a Protective Factor in Chinese Patients with Spinocerebellar Ataxia Type 1.
Cerebellum
; 2023 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491649
5.
CALHM2 V136G polymorphism reduces astrocytic ATP release and is associated with depressive symptoms and Alzheimer's disease risk.
Alzheimers Dement
; 19(10): 4407-4420, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37493186
6.
Pathogenesis and therapeutic advances of cerebral autosomal- dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Yi Chuan
; 45(7): 568-579, 2023 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503581
7.
Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants.
Mov Disord
; 37(3): 608-613, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35083789
8.
Serum Neurofilament Light Chain in Wilson's Disease: A Promising Indicator but Unparallel to Real-Time Treatment Response.
Mov Disord
; 37(7): 1531-1535, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35507442
9.
Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
Brain
; 144(8): 2457-2470, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33751098
10.
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson's Disease.
Clin Gastroenterol Hepatol
; 19(3): 590-596, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32485301
11.
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 44(2): 450-468, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33438237
12.
Genetic profile and clinical characteristics of Chinese patients with spinocerebellar ataxia type 2: A multicenter experience over 10 years.
Eur J Neurol
; 28(3): 955-964, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33070405
13.
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
em Inglês
| MEDLINE | ID: mdl-34666706
14.
A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients.
Metab Brain Dis
; 36(8): 2273-2281, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34347207
15.
Factors Associated with Intergenerational Instability of ATXN3 CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3.
Cerebellum
; 19(6): 902-906, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32676850
16.
Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 25(2): 107-111, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319184
17.
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Clin Genet
; 96(5): 439-448, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31372974
18.
Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum.
Brain
; 146(12): e117-e119, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37343138
19.
Novel Function of Extracellular Matrix Protein 1 in Suppressing Th17 Cell Development in Experimental Autoimmune Encephalomyelitis.
J Immunol
; 197(4): 1054-64, 2016 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27316685
20.
Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.
Hum Mutat
; 38(11): 1569-1578, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28776325