Detalhe da pesquisa
1.
Impaired intracortical transmission in G2019S leucine rich-repeat kinase Parkinson patients.
Mov Disord
; 32(5): 750-756, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28186666
2.
Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene.
Hum Mutat
; 41(5): 1069-1071, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32285596
3.
Genetic counselling in ALS: facts, uncertainties and clinical suggestions.
J Neurol Neurosurg Psychiatry
; 85(5): 478-85, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23833266
4.
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
Brain
; 135(Pt 3): 784-93, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22366794
5.
Long-Term Treatment Over 52 Weeks with Monthly Fremanezumab in Drug-Resistant Migraine: A Prospective Multicenter Cohort Study.
CNS Drugs
; 37(12): 1069-1080, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37999868
6.
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
7.
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study.
Amyotroph Lateral Scler
; 13(6): 580-4, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22873564
8.
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease.
Neurol Sci
; 38(1): 207-208, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27646412
9.
BDNF and Pro-BDNF in Amyotrophic Lateral Sclerosis: A New Perspective for Biomarkers of Neurodegeneration.
Brain Sci
; 12(5)2022 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35625004
10.
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Hum Mol Genet
; 18(8): 1524-32, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19193627
11.
Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells.
Cells
; 10(3)2021 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33810005
12.
KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.
J Mol Neurosci
; 71(9): 1876-1883, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33651268
13.
A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation.
Genes (Basel)
; 12(10)2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680939
14.
Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test.
Amino Acids
; 38(5): 1461-71, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19798466
15.
A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS.
Amyotroph Lateral Scler
; 11(5): 481-5, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20331403
16.
G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype.
Amyotroph Lateral Scler
; 11(1-2): 210-5, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19488901
17.
D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings.
Amyotroph Lateral Scler
; 11(1-2): 216-9, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20184519
18.
Cavernous malformation of the optic nerve mimicking optic neuritis.
J Neuroophthalmol
; 30(2): 126-31, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20351573
19.
Skeletal-Muscle Metabolic Reprogramming in ALS-SOD1G93A Mice Predates Disease Onset and Is A Promising Therapeutic Target.
iScience
; 23(5): 101087, 2020 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371370
20.
Genotype-phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation.
Amyotroph Lateral Scler Frontotemporal Degener
; 20(7-8): 611-614, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31170830