Detalhe da pesquisa
1.
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
2.
How to diagnose difficult white matter disorders.
Pract Neurol
; 20(4): 280-286, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32434903
3.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Am J Hum Genet
; 98(4): 763-71, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058447
4.
Leukoencephalopathy caused by a 17p13.3 microdeletion.
J Neurol Neurosurg Psychiatry
; 95(3): 290-292, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734926
5.
Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.
J Neurol Neurosurg Psychiatry
; 90(5): 543-554, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30467211
6.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Brain
; 141(8): 2289-2298, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30010796
7.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
J Neurol Neurosurg Psychiatry
; 94(5): 405-408, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737246
8.
Clinical and genetic characterization of leukoencephalopathies in adults.
Brain
; 140(5): 1204-1211, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334938
9.
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
10.
Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1.
Mov Disord
; 37(4): 879-881, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35142387
11.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Brain
; 139(Pt 7): 1904-18, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27217339
12.
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.
Ann Neurol
; 88(3): 641-642, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32542757
13.
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.
J Neurol Neurosurg Psychiatry
; 87(5): 512-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25935893
14.
Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy.
J Neurol Neurosurg Psychiatry
; 90(12): 1306, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31401565
15.
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Brain Commun
; 6(1): fcad273, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38173802
16.
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.
J Neurol Neurosurg Psychiatry
; 89(11): 1230-1232, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29472272
17.
A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
J Neurol
; 269(12): 6673-6677, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904593
18.
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Cold Spring Harb Mol Case Stud
; 2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180229
19.
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.
Front Neurol
; 12: 788168, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35185751
20.
Pembrolizumab for the treatment of progressive multifocal leukoencephalopathy following anti-CD19 CAR-T therapy: a case report.
EJHaem
; 2(4): 848-853, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35845220