Detalhe da pesquisa
1.
The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.
Hum Mol Genet
; 32(15): 2502-2510, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216648
2.
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
em Inglês
| MEDLINE | ID: mdl-35148830
3.
Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease.
J Pathol
; 263(1): 8-21, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38332735
4.
Glymphatic dysfunction in patients with early-stage amyotrophic lateral sclerosis.
Brain
; 147(1): 100-108, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584389
5.
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
J Med Genet
; 61(4): 325-331, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37890998
6.
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.
J Med Genet
; 61(4): 340-346, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37923380
7.
HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA.
BMC Genomics
; 25(1): 538, 2024 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38822239
8.
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
Hum Mol Genet
; 31(7): 1115-1129, 2022 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718578
9.
Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE.
J Transl Med
; 22(1): 449, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741129
10.
A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene.
J Hum Genet
; 69(3-4): 125-131, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38228875
11.
Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.
Cerebellum
; 2024 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429489
12.
Mendelian randomization analyses reveal causal relationship between liver volume and stroke.
J Stroke Cerebrovasc Dis
; : 107752, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701939
13.
Shedding Light on Lysosomal Malondialdehyde Affecting Vitamin B12 Transport during Cerebral Ischemia/Reperfusion Injury.
J Am Chem Soc
; 145(41): 22609-22619, 2023 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37803879
14.
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
15.
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy.
J Hum Genet
; 68(2): 97-101, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446828
16.
Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders.
J Hum Genet
; 68(11): 777-782, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407718
17.
A case report of long-delayed diagnosis of pseudorabies virus encephalitis with endophthalmitis: lessons from metagenomic next generation sequencing.
BMC Neurol
; 23(1): 192, 2023 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37194001
18.
MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction.
J Med Genet
; 59(1): 79-87, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33208382
19.
Amygdala abnormalities across disease stages in patients with sporadic amyotrophic lateral sclerosis.
Hum Brain Mapp
; 43(18): 5421-5431, 2022 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35866384
20.
A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy.
J Hum Genet
; 67(7): 441-444, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165376