Detalhe da pesquisa
1.
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees.
Neurogenetics
; 23(1): 59-65, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518945
2.
Deficits in verbal fluency in presymptomatic C9orf72 mutation gene carriers-a developmental disorder.
J Neurol Neurosurg Psychiatry
; 91(11): 1195-1200, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32855285
3.
Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase.
J Neurol Neurosurg Psychiatry
; 90(1): 4-10, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30224549
4.
Hot-spot KIF5A mutations cause familial ALS.
Brain
; 141(3): 688-697, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342275
5.
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
J Neurol Neurosurg Psychiatry
; 89(8): 817-827, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29650794
6.
Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis.
Ann Neurol
; 79(1): 152-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26528863
7.
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
Brain
; 142(2): e4, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30649222
8.
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
Brain
; 142(12): e67, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31612906
9.
Effects of tofersen treatment in patients with SOD1-ALS in a "real-world" setting - a 12-month multicenter cohort study from the German early access program.
EClinicalMedicine
; 69: 102495, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38384337
10.
Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients.
Sci Rep
; 13(1): 12019, 2023 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491426
11.
DNA Methylation Analysis in Monozygotic Twins Discordant for ALS in Blood Cells.
Epigenet Insights
; 16: 25168657231172159, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37152709
12.
Metabolic alterations precede neurofilament changes in presymptomatic ALS gene carriers.
EBioMedicine
; 90: 104521, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917918
13.
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Brain Commun
; 5(3): fcad152, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37223130
14.
Quadruple genetic variants in a sporadic ALS patient.
Mol Genet Genomic Med
; 10(7): e1953, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426263
15.
Methylome analysis of ALS patients and presymptomatic mutation carriers in blood cells.
Neurobiol Aging
; 116: 16-24, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35537341
16.
Eye movement alterations in presymptomatic C9orf72 expansion gene carriers.
J Neurol
; 268(9): 3390-3399, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709219