Detalhe da pesquisa
1.
Neurofilament light-chain response during therapy with antisense oligonucleotide tofersen in SOD1-related ALS: Treatment experience in clinical practice.
Muscle Nerve
; 67(6): 515-521, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928619
2.
Performance of serum neurofilament light chain in a wide spectrum of clinical courses of amyotrophic lateral sclerosis-a cross-sectional multicenter study.
Eur J Neurol
; 30(6): 1600-1610, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36899448
3.
Creatine Kinase MB Isoenzyme Is a Complementary Biomarker in Amyotrophic Lateral Sclerosis.
Int J Mol Sci
; 24(14)2023 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511443
4.
A Remote Digital Monitoring Platform to Assess Cognitive and Motor Symptoms in Huntington Disease: Cross-sectional Validation Study.
J Med Internet Res
; 24(6): e32997, 2022 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35763342
5.
Proteomics in cerebrospinal fluid and spinal cord suggests UCHL1, MAP2 and GPNMB as biomarkers and underpins importance of transcriptional pathways in amyotrophic lateral sclerosis.
Acta Neuropathol
; 139(1): 119-134, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701227
6.
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
7.
Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.
J Neurol Neurosurg Psychiatry
; 91(5): 503-511, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32132225
8.
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
9.
Hot-spot KIF5A mutations cause familial ALS.
Brain
; 141(3): 688-697, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342275
10.
Chitotriosidase (CHIT1) is increased in microglia and macrophages in spinal cord of amyotrophic lateral sclerosis and cerebrospinal fluid levels correlate with disease severity and progression.
J Neurol Neurosurg Psychiatry
; 89(3): 239-247, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29142138
11.
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
12.
ALS-causing mutations differentially affect PGC-1α expression and function in the brain vs. peripheral tissues.
Neurobiol Dis
; 97(Pt A): 36-45, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27818323
13.
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
14.
Hypothalamic atrophy is related to body mass index and age at onset in amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 88(12): 1033-1041, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28596251
15.
The concept and diagnostic criteria of primary lateral sclerosis.
Acta Neurol Scand
; 136(3): 204-211, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858953
16.
Mutual exacerbation of peroxisome proliferator-activated receptor γ coactivator 1α deregulation and α-synuclein oligomerization.
Ann Neurol
; 77(1): 15-32, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363075
17.
Peripheral monocytes are functionally altered and invade the CNS in ALS patients.
Acta Neuropathol
; 132(3): 391-411, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26910103
18.
Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients.
J Neurol Neurosurg Psychiatry
; 87(1): 12-20, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26296871
19.
Full-length PGC-1α salvages the phenotype of a mouse model of human neuropathy through mitochondrial proliferation.
Hum Mol Genet
; 22(25): 5096-106, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23900073
20.
PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis.
Hum Mol Genet
; 22(17): 3477-84, 2013 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23669350