Detalhe da pesquisa
1.
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
Hum Mol Genet
; 33(9): 768-786, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280232
2.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet
; 110(7): 1098-1109, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301203
3.
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.
Hum Mol Genet
; 32(2): 333-350, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35994048
4.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193360
5.
Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
J Med Genet
; 61(4): 332-339, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37989569
6.
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.
Neurogenetics
; 25(2): 51-67, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38334933
7.
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model.
Neurobiol Dis
; 197: 106536, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38763444
8.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
9.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Ann Neurol
; 94(3): 470-485, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243847
10.
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
Mov Disord
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509638
11.
A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism.
Cerebellum
; 23(2): 757-774, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37155088
12.
CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias.
Cerebellum
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436911
13.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135915
14.
Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia.
Brain
; 146(3): 1103-1120, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029068
15.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain
; 146(5): 2003-2015, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315648
16.
Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.
Neurol Sci
; 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427163
17.
Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.
Int J Mol Sci
; 25(5)2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38473862
18.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Am J Med Genet B Neuropsychiatr Genet
; : e32970, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459409
19.
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
Neurogenetics
; 24(3): 147-160, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131039
20.
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.
Mov Disord
; 38(9): 1742-1750, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37482941