Detalhe da pesquisa
1.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055214
2.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527963
3.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
4.
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
Eur J Neurol
; 30(2): 399-412, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36303290
5.
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
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.
Paroxysmal headache with extracephalic irradiation: Proposal for a new variant of epicrania fugax in a series of five patients.
Cephalalgia
; 40(9): 959-965, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32295401
8.
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
9.
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Am J Hum Genet
; 98(4): 597-614, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040688
10.
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Brain
; 140(11): 2820-2837, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053833
11.
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.
Neurogenetics
; 18(1): 63-67, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28005197
12.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
; 95(5): 590-601, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439726
13.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 88(7): 575-585, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28501821
14.
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
15.
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
Brain
; 137(Pt 12): 3200-12, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25281868
16.
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Neurology
; 102(7): e209174, 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513194
17.
Early brain pseudoatrophy while on natalizumab therapy is due to white matter volume changes.
Mult Scler
; 19(9): 1175-81, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23319072
18.
Functional neurological symptoms as initial presentation of Creutzfeldt-Jakob disease: case series.
J Neurol
; 270(2): 1141-1146, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175672
19.
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.
Neurol Genet
; 6(1): e381, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042910
20.
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Neurol Genet
; 5(2): e322, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31119193