Detalhe da pesquisa
1.
Comparison between PFN1 and SOD1 mutations in amyotrophic lateral sclerosis.
Eur J Neurol
; 30(2): 552-554, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36176198
2.
The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.
Int J Mol Sci
; 23(10)2022 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628504
3.
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
J Neurol Neurosurg Psychiatry
; 92(9): 942-949, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33785574
4.
Effect of familial clustering in the genetic screening of 235 French ALS families.
J Neurol Neurosurg Psychiatry
; 92(5): 479-484, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408239
5.
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Nature
; 488(7412): 499-503, 2012 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-22801503
6.
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.
Hum Mol Genet
; 23(7): 1916-22, 2014 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24234648
7.
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Hum Mol Genet
; 23(8): 2220-31, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24256812
8.
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.
Hum Mol Genet
; 22(12): 2350-60, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23446633
9.
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
Ann Neurol
; 76(1): 120-33, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24931836
10.
Grey Matter 150th anniversary of Charcot's description of amyotrophic lateral sclerosis.
Brain
; 142(10): 3306-3313, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31539029
11.
Coordinated care affects hospitalization and prognosis in amyotrophic lateral sclerosis: a cohort study.
BMC Health Serv Res
; 15: 134, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25890266
12.
Degeneration of serotonergic neurons in amyotrophic lateral sclerosis: a link to spasticity.
Brain
; 136(Pt 2): 483-93, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23114367
13.
Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.
Brain
; 136(Pt 8): 2359-68, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23824486
14.
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.
Hum Mutat
; 34(7): 953-60, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23568759
15.
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
Acta Neuropathol
; 125(4): 511-22, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23417734
16.
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
J Med Genet
; 49(4): 258-63, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22499346
17.
Predicting survival of patients with amyotrophic lateral sclerosis at presentation: a 15-year experience.
Neurodegener Dis
; 12(2): 81-90, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-22922503
18.
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.
Biomedicines
; 11(3)2023 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36979682
19.
Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.
Amyotroph Lateral Scler
; 13(1): 132-6, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21877919
20.
Diaphragm pacing improves sleep in patients with amyotrophic lateral sclerosis.
Amyotroph Lateral Scler
; 13(1): 44-54, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22023158