Detalhe da pesquisa
1.
Frequency and outcomes of gastrostomy insertion in a longitudinal cohort study of atypical parkinsonism.
Eur J Neurol
; 31(6): e16258, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38407533
2.
Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials.
Brain
; 146(8): 3232-3242, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36975168
3.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Am J Hum Genet
; 106(3): 412-421, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32142645
4.
Neurofilament light levels predict clinical progression and death in multiple system atrophy.
Brain
; 145(12): 4398-4408, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35903017
5.
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
Int J Mol Sci
; 24(3)2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768210
6.
Multiple system atrophy.
Pract Neurol
; 23(3): 208-221, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927875
7.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Ann Neurol
; 89(6): 1240-1247, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704825
8.
Combining biomarkers for prognostic modelling of Parkinson's disease.
J Neurol Neurosurg Psychiatry
; 2022 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577512
9.
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Mov Disord
; 36(1): 251-255, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33026126
10.
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Am J Hum Genet
; 100(6): 969-977, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575651
11.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol
; 86(2): 225-240, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187503
12.
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Int J Mol Sci
; 21(7)2020 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32235485
13.
Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes.
J Neurol Neurosurg Psychiatry
; 90(7): 768-773, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30867224
14.
Autonomic dysfunction in genetic forms of synucleinopathies.
Mov Disord
; 33(3): 359-371, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29508456
15.
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Mov Disord
; 33(7): 1119-1129, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603387
16.
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
J Neurol Neurosurg Psychiatry
; 88(8): 681-687, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28572275
17.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Brain
; 139(Pt 7): 1904-18, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27217339
18.
RFC1-related ataxia is a mimic of early multiple system atrophy.
J Neurol Neurosurg Psychiatry
; 2021 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33563805
19.
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Mov Disord
; 36(4): 1034-1038, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543803
20.
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
Mov Disord
; 35(10): 1890-1891, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33068477