Detalhe da pesquisa
1.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
N Engl J Med
; 390(5): 421-431, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38294974
2.
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
Brain
; 147(4): 1389-1398, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831662
3.
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
Mov Disord
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725190
4.
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.
J Inherit Metab Dis
; 47(2): 327-339, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112342
5.
Seizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review.
Can J Neurol Sci
; 50(1): 60-71, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35067244
6.
Rights and duties of genetic counsellors in Germany related to relatives at risk: comparative thoughts on the German Genetic Diagnostics Act.
J Med Ethics
; 2023 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451858
7.
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Mov Disord
; 37(1): 148-161, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622992
8.
Relationship between COVID-19 and movement disorders: A narrative review.
Eur J Neurol
; 29(4): 1243-1253, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918437
9.
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.
Neurol Sci
; 43(5): 3273-3281, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800199
10.
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Mov Disord
; 36(8): 1959-1964, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33949708
11.
Disruption of the sodium-dependent citrate transporter SLC13A5 in mice causes alterations in brain citrate levels and neuronal network excitability in the hippocampus.
Neurobiol Dis
; 143: 105018, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32682952
12.
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Mov Disord
; 35(1): 142-150, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31518459
13.
Brain iron accumulation in Wilson's disease: A longitudinal imaging case study during anticopper treatment using 7.0T MRI and transcranial sonography.
J Magn Reson Imaging
; 47(1): 282-285, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28376267
14.
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Hum Mol Genet
; 24(23): 6711-20, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362251
15.
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.
Mov Disord
; 32(11): 1504-1523, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29124790
16.
Reduction of GAPDH in lenses of Parkinson's disease patients: A possible new biomarker.
Mov Disord
; 32(3): 459-462, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859598
17.
Genome-wide association study in essential tremor identifies three new loci.
Brain
; 139(Pt 12): 3163-3169, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27797806
18.
What do patients with scans without evidence of dopaminergic deficit (SWEDD) have? New evidence and continuing controversies.
J Neurol Neurosurg Psychiatry
; 87(3): 319-23, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25991401
19.
Neurodegeneration with Brain Iron Accumulation.
Curr Neurol Neurosci Rep
; 16(1): 9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26739693
20.
Preserved micturition after intradetrusor onabotulinumtoxinA injection for treatment of neurogenic bladder dysfunction in Parkinson's disease.
BMC Urol
; 16(1): 55, 2016 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27596481