Detalhe da pesquisa
1.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
2.
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
3.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
4.
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
J Peripher Nerv Syst
; 28(3): 359-367, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37306961
5.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
6.
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Neurogenetics
; 21(1): 29-37, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31655922
7.
Morphological features in juvenile Huntington disease associated with cerebellar atrophy - magnetic resonance imaging morphometric analysis.
Pediatr Radiol
; 48(10): 1463-1471, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29926145
8.
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Ann Neurol
; 78(6): 871-86, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26288984
9.
Delayed-onset Friedreich's ataxia revisited.
Mov Disord
; 31(1): 62-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26388117
10.
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Brain
; 138(Pt 8): 2347-58, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063658
11.
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Brain
; 138(Pt 2): 284-92, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25527826
12.
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Brain
; 136(Pt 11): 3395-407, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24065723
13.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine
; 99: 104931, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150853
14.
Phenotype and imaging features associated with APP duplications.
Alzheimers Res Ther
; 15(1): 93, 2023 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170141
15.
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias.
Mov Disord
; 26(3): 534-8, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21287600
16.
Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume.
Am J Med Genet A
; 155A(4): 815-8, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21412977
17.
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.
Diagnostics (Basel)
; 11(9)2021 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573903
18.
Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia.
Br J Psychiatry
; 197(1): 28-35, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20592430
19.
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Brain
; 132(Pt 6): 1589-600, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19439420
20.
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Eur J Med Genet
; 63(12): 104063, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32947049