Detalhe da pesquisa
1.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193360
2.
Genetic Epidemiology and Clinical Characteristics of Patients with Spinocerebellar Ataxias in an Unexplored Brazilian State, Using Strategies for Resource-Limited Settings.
Cerebellum
; 23(2): 609-619, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454040
3.
Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of São Paulo, Brazil.
Cerebellum
; 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520642
4.
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
J Peripher Nerv Syst
; 29(1): 97-106, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375759
5.
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
6.
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
7.
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
8.
Voxel-Based Morphometry and Relaxometry Demonstrate Macro- and Microstructural Damages in Spinocerebellar Ataxia Type 3.
Cerebellum
; 22(5): 818-824, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35982369
9.
An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean.
Cerebellum
; 22(4): 708-718, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796998
10.
Inter-rater reliability of the Rasch-modified medical research council scoring criteria for manual muscle testing in neuromuscular diseases.
J Peripher Nerv Syst
; 28(1): 119-124, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36721348
11.
Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.
J Peripher Nerv Syst
; 28(4): 614-619, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37849068
12.
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
13.
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
JAMA
; 330(15): 1448-1458, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37768671
14.
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
Mov Disord
; 37(6): 1309-1316, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426160
15.
RFC1-Related Disorder: In Vivo Evaluation of Spinal Cord Damage.
Mov Disord
; 37(10): 2122-2128, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35877029
16.
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
Cerebellum
; 21(1): 49-54, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33956305
17.
Conduction block and temporal dispersion in a SIGMAR1-related neuropathy.
J Peripher Nerv Syst
; 27(4): 316-319, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36222432
18.
Brain Structural Signature of RFC1-Related Disorder.
Mov Disord
; 36(11): 2634-2641, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34241918
19.
Antecedent infections in Guillain-Barré syndrome in endemic areas of arbovirus transmission: A multinational case-control study.
J Peripher Nerv Syst
; 26(4): 449-460, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34549484
20.
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