Detalhe da pesquisa
1.
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Brain
; 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38481354
2.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Mov Disord
; 39(3): 486-497, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38197134
3.
Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.
Eur J Neurol
; 31(5): e16199, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409938
4.
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.
Eur J Neurol
; 31(1): e16063, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37772343
5.
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
J Peripher Nerv Syst
; 29(1): 111-115, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131667
6.
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Brain
; 146(10): 4025-4032, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337674
7.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Brain
; 146(7): 2723-2729, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797998
8.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
; 146(10): 4336-4349, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37284795
9.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain
; 146(12): 5060-5069, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450567
10.
Elevated 4R-tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation.
J Cell Mol Med
; 26(4): 1327-1331, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34951131
11.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
J Neurol Neurosurg Psychiatry
; 93(1): 48-56, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518334
12.
Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study.
Mol Psychiatry
; 26(10): 5967-5976, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32665603
13.
Plasma amyloid-ß ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
Brain
; 144(10): 2964-2970, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33892504
14.
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Mol Biol Rep
; 48(3): 2093-2104, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33742325
15.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
; 143(12): 3589-3602, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415332
16.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
; 143(2): 480-490, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040566
17.
Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.
Int J Mol Sci
; 22(14)2021 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34299126
18.
19.
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
J Peripher Nerv Syst
; 25(3): 303-307, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32412171
20.
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Hum Genet
; 138(11-12): 1313-1322, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673819