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List of works by Lorena Mosca

Amyotrophic lateral sclerosis in pregnancy is associated with a vascular endothelial growth factor promoter genotype

scientific article published on 28 January 2014

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

scientific article published on 31 May 2016

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

article

Genetic variability of the fructosamine 3-kinase gene in diabetic patients

scientific article published on 3 February 2011

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features

article

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.

scientific article

Mutational Screening of NOTCH3 Gene Reveals Two Novel Mutations: Complexity of CADASIL Diagnosis

article

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

scientific article published on 26 May 2011

No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population

article

Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis.

scientific article

Phenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease

article

Progressive parkinsonism, balance difficulties, and supranuclear gaze palsy

scientific article published in January 2014

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.

scientific article

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