Giovanna Vaula

Azienda Ospedaliera Citta' della Salute e della Scienza di Torino — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

24h-index2.4kcitations73works4.72yr avg
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Research Topics

RNA regulation and disease(17), Alzheimer's disease research and treatments(12), Migraine and Headache Studies(10), RNA Research and Splicing(9), Nuclear Structure and Function(9)

Publications70 total

Long-term modifications of the peripheral immune repertoire after switching from sequestering disease-modifying treatments in multiple sclerosis
Multiple Sclerosis Journal·2024
Structural Variants at the <scp><i>LMNB1</i></scp> Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult‐Onset Demyelinating Leukodystrophy
Annals of Neurology·2024· 8 citedOpen Access
Asymmetric and symmetric dimethylarginine as markers of endothelial dysfunction in cerebrovascular disease: A prospective study
Nutrition Metabolism and Cardiovascular Diseases·2024· 6 citedOpen Access
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models
Molecular Neurobiology·2023· 12 citedOpen Access
Sars-CoV2 infection in pregnant women with multiple sclerosis
Multiple Sclerosis Journal·2023· 1 citedOpen Access
Heterozygous <scp><i>NOTCH1</i></scp> Variants Cause <scp>CNS</scp> Immune Activation and Microangiopathy
Annals of Neurology·2022· 5 citedOpen Access
Neurological comorbidity and severity of COVID-19
Journal of Neurology·2020· 62 citedOpen Access
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)
Parkinsonism & Related Disorders·2016· 35 citedOpen Access
Clinical and Neuroradiological Features of Spinocerebellar Ataxia 38 (SCA38) (S30.006)
Neurology·2016
Two families with novel missense mutations in COL4A1: When diagnosis can be missed
Journal of the Neurological Sciences·2015· 25 citedOpen Access
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
Human Molecular Genetics·2015· 146 citedOpen Access
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38
The American Journal of Human Genetics·2014· 116 citedOpen Access
Non-invasive Vagal Nerve Stimulation for the Treatment of Headache Attacks in Patients with Chronic Migraine and Medication-Overuse Headache (P1.262)
Neurology·2014· 6 cited
Efficacy And Safety Of High Dose Of Intravenous Methylprednisolone In Cluster Headache Patients Not Responders To Oral Therapy (P7.199)
Neurology·2014
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION
2014
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY
2014
Analysis of<i>LMNB1</i>Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
Human Mutation·2013· 1 citedOpen Access
Analysis of <i> <scp> <i>LMNB</i> </scp> 1 </i> Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression
Human Mutation·2013· 40 citedOpen Access
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS
2013
A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1
European Journal of Human Genetics·2013
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Frequent Co-authors

Lorenzo Pinessi(20), Innocenzo Rainero(16), Alfredo Brusco(15), Peter St George‐Hyslop(11), Eleonora Di Gregorio(11), Alessandro Brussino(11), Elisa Giorgio(10), L Bergamini(8), S. Leombruni(8), Е. И. Рогаев(7), Marzia Mortilla(7), Walter J. Lukiw(7), M. P. Montesi(6), Amalia C. Bruni(6), Elisa Rubino(6), Pietro Cortelli(6), Jonathan L. Haines(5), Sandro Sorbi(5), Ronald J. Polinsky(5), Rossella Tupler(5)