Detalhe da pesquisa
1.
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Am J Hum Genet
; 111(5): 913-926, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38626762
2.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
J Med Genet
; 60(10): 1026-1034, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197783
3.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Am J Hum Genet
; 107(6): 1170-1177, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232677
4.
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Genet Med
; 25(2): 100327, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36422518
5.
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Mov Disord
; 38(11): 2103-2115, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37605305
6.
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
BMC Neurol
; 22(1): 53, 2022 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151251
7.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Brain
; 144(9): 2659-2669, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415322
8.
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Neurogenetics
; 22(1): 71-79, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486633
9.
Natural History of Adult Patients with GM2 Gangliosidosis.
Ann Neurol
; 87(4): 609-617, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31995250
10.
Disrupted filamin A/αIIbß3 interaction induces macrothrombocytopenia by increasing RhoA activity.
Blood
; 133(16): 1778-1788, 2019 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30602618
11.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277047
12.
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Hum Mutat
; 41(7): 1220-1225, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227665
13.
MRI of neurodegeneration with brain iron accumulation.
Curr Opin Neurol
; 33(4): 462-473, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32657887
14.
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Genet Med
; 22(11): 1851-1862, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32713943
15.
Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
Clin Genet
; 97(4): 628-633, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31713837
16.
Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.
Neuropediatrics
; 51(4): 245-250, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32143220
17.
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
J Med Genet
; 56(8): 499-511, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30910913
18.
Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.
J Biol Chem
; 293(32): 12415-12428, 2018 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29925593
19.
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.
Hum Mol Genet
; 26(4): 674-685, 2017 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007911
20.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997391