Detalhe da pesquisa
1.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929741
2.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
3.
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Brain
; 140(2): 287-305, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28137957
4.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain
; 140(6): 1561-1578, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459997
5.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(6): 1251, 2019 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173719
6.
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
Biochem Biophys Res Commun
; 465(1): 35-40, 2015 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220345
7.
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4.
Ann Clin Transl Neurol
; 9(3): 326-338, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35171517
8.
Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia.
Ann Clin Transl Neurol
; 8(5): 1122-1131, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33819388
9.
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Parkinsonism Relat Disord
; 74: 6-11, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32268254
10.
Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.
Stem Cell Res
; 35: 101336, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30606667
11.
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Nat Commun
; 10(1): 4790, 2019 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636353
12.
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.
Mol Genet Genomic Med
; 5(3): 280-286, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546998
13.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Eur J Hum Genet
; 29(9): 1332-1336, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33972714
14.
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Eur J Hum Genet
; 29(9): 1462-1465, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429526
15.
Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.
Neurol Genet
; 6(1): e384, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042913
16.
Motor protein mutations cause a new form of hereditary spastic paraplegia.
Neurology
; 82(22): 2007-16, 2014 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24808017