Detalhe da pesquisa
1.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Ann Neurol
; 93(2): 330-335, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333996
2.
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
Mov Disord
; 39(5): 897-905, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436103
3.
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Mov Disord
; 38(10): 1950-1956, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470282
4.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722775
5.
Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
Clin Genet
; 98(3): 251-260, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557569
6.
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Am J Med Genet A
; 182(5): 1236-1242, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32052936
7.
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
J Med Genet
; 55(5): 329-343, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29572252
8.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol
; 134(6): 889-904, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28685322
9.
Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia.
Gene
; 893: 147902, 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37839763
10.
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
J Neurol
; 271(4): 2078-2085, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263489
11.
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Forensic Sci Int Genet
; 71: 103028, 2024 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38518711
12.
Genetic compensation in a human genomic disorder.
N Engl J Med
; 360(12): 1211-6, 2009 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-19297573
13.
Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B.
Front Genet
; 13: 762047, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35251122
14.
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
Orphanet J Rare Dis
; 17(1): 121, 2022 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248096
15.
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
Prenat Diagn
; 36(13): 1276-1279, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862069
16.
Clinical and Mutation Spectra of Cockayne Syndrome in India.
Neurol India
; 69(2): 362-366, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33904453
17.
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
Genes (Basel)
; 12(12)2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946871
18.
Growth charts in Cockayne syndrome type 1 and type 2.
Eur J Med Genet
; 64(1): 104105, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33227433
19.
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
J Neurol
; 268(5): 1927-1937, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417001
20.
The in vivo mitochondrial two-step maturation of human frataxin.
Hum Mol Genet
; 17(22): 3521-31, 2008 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18725397