Detalhe da pesquisa
1.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Clin Genet
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685133
2.
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Brain
; 146(10): 4191-4199, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170631
3.
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
4.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain
; 146(12): 4880-4890, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37769650
5.
Primary neural leprosy: clinical, neurophysiological and pathological presentation and progression.
Brain
; 145(4): 1499-1506, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664630
6.
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
7.
High glucose level as a modifier factor in CMT1A patients.
J Peripher Nerv Syst
; 25(2): 132-137, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347995
8.
New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 24(2): 207-212, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31119804
9.
The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population.
J Peripher Nerv Syst
; 23(2): 134-137, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29520877
10.
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients.
Mov Disord
; 37(8): 1773-1774, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35507441
11.
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
J Peripher Nerv Syst
; 22(4): 460-463, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28834584
12.
Recent advances in the genetic neuropathies.
Curr Opin Neurol
; 29(5): 537-48, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27584852
13.
Severe cognitive impairment in a patient with CMT2A.
J Peripher Nerv Syst
; 23(2): 147-148, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29520876
14.
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Neurol Genet
; 9(5): e200094, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646005
15.
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.
J Peripher Nerv Syst
; 21(1): 52-4, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26930221
16.
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Neurology
; 94(1): e51-e61, 2020 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827005
17.
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nat Genet
; 51(5): 920, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028356
18.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nat Genet
; 51(4): 649-658, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30926972
19.
IGHMBP2 mutation associated with organ-specific autonomic dysfunction.
Neuromuscul Disord
; 28(12): 1012-1015, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30385095
20.
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Neurology
; 88(15): 1445-1453, 2017 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283593