Detalhe da pesquisa
1.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
J Med Genet
; 60(10): 965-973, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197784
2.
Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow-up study.
Eur J Neurol
; 30(1): 215-223, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256504
3.
Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models.
Proc Natl Acad Sci U S A
; 116(50): 25203-25213, 2019 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754023
4.
Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes.
J Stroke Cerebrovasc Dis
; 30(12): 106130, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597987
5.
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
Acta Neuropathol
; 139(5): 959-962, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31955222
6.
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
Brain
; 142(9): 2605-2616, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31332438
7.
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
Acta Neuropathol
; 138(2): 237-250, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131421
8.
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Mov Disord
; 34(10): 1547-1561, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433872
9.
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
Mov Disord
; 34(12): 1932-1933, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845766
10.
White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study.
Sci Rep
; 12(1): 3988, 2022 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256728
11.
Senescence plays a role in myotonic dystrophy type 1.
JCI Insight
; 7(19)2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36040809
12.
Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study.
J Neuropsychol
; 14(1): 121-134, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31407859
13.
Neurodegeneration trajectory in pediatric and adult/late DM1: A follow-up MRI study across a decade.
Ann Clin Transl Neurol
; 7(10): 1802-1815, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32881379
14.
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Ann Clin Transl Neurol
; 7(1): 105-111, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31854126
15.
A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener
; 21(3-4): 252-262, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32106710
16.
Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease.
Aging (Albany NY)
; 12(17): 16690-16708, 2020 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32903216
17.
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Genes (Basel)
; 11(5)2020 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403337
18.
Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1.
Neuroimage Clin
; 24: 102078, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31795042
19.
Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?
PLoS One
; 13(9): e0204227, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30248121
20.
Blood Markers in Healthy-Aged Nonagenarians: A Combination of High Telomere Length and Low Amyloidß Are Strongly Associated With Healthy Aging in the Oldest Old.
Front Aging Neurosci
; 10: 380, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30546303