Detalhe da pesquisa
1.
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Int J Mol Sci
; 23(4)2022 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216386
2.
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Mov Disord
; 36(10): 2273-2281, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33951232
3.
Lithium Sensitivity of Store Operated Ca2+ Entry and Survival of Fibroblasts Isolated from Chorea-Acanthocytosis Patients.
Cell Physiol Biochem
; 42(5): 2066-2077, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803243
4.
Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series.
Blood Adv
; 8(6): 1504-1508, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38330194
5.
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
6.
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.
Neuroimage
; 49(1): 158-68, 2010 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19631275
7.
Comprehensive autonomic assessment does not differentiate between Parkinson's disease, multiple system atrophy and progressive supranuclear palsy.
J Neural Transm (Vienna)
; 117(1): 69-76, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19763772
8.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology
; 95(24): e3163-e3179, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144514
9.
Quality of life and prenatal decisions.
Virtual Mentor
; 7(2)2005 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23249454