about
Genetic variability of the fructosamine 3-kinase gene in diabetic patients.Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis.Progressive parkinsonism, balance difficulties, and supranuclear gaze palsy.NOTCH3 gene mutations in subjects clinically suspected of CADASIL.Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject.Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.Amyotrophic lateral sclerosis in pregnancy is associated with a vascular endothelial growth factor promoter genotypeNo association of MTHFR c.677C>T variant with sporadic ALS in an Italian populationHypomorphic NOTCH3 mutation in an Italian family with CADASIL featuresMutational Screening of NOTCH3 Gene Reveals Two Novel Mutations: Complexity of CADASIL DiagnosisDe Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous MalformationsPhenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease
P50
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P50
description
forsker
@nb
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
L. Mosca
@ast
L. Mosca
@nl
Lorena Mosca
@en
Lorena Mosca
@es
Lorena Mosca
@nb
type
label
L. Mosca
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L. Mosca
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Lorena Mosca
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Lorena Mosca
@es
Lorena Mosca
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L. Mosca
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prefLabel
L. Mosca
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L. Mosca
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Lorena Mosca
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Lorena Mosca
@es
Lorena Mosca
@nb
P106
P31
P496
0000-0002-6767-2368