Margherita Estienne

Statistics

Publications

Citations

759

H-Index

Active since

1993

Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta(Current)

University of Milan

University of Pavia

Amsterdam UMC Location Vrije Universiteit Amsterdam

University of Chieti-Pescara

Margherita Estienne is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1993–2021

Publications

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian Rice, Sehoon Park, Francesco Gavazzi et al. · Human Mutation · 2020 · 113 citations · Full text

Life Sciences, Genetics, Immunology +17

X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene <i>SLC6A8</i>

Alberto Bizzi, Marianna Bugiani, Gajja S. Salomons et al. · Annals of Neurology · 2002 · 90 citations

Life Sciences, Genetics, Molecular Genetics +14

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

Elide Mantuano, Silvia Romano, Liana Veneziano et al. · Journal of the Neurological Sciences · 2010 · 87 citations

Life Sciences, Genetics, Molecular Genetics +9

PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti et al. · PLoS ONE · 2014 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Life-threatening dystonia-dyskinesias in a child: Successful treatment with bilateral pallidal stimulation

Lucia Angelini, Nardo Nardocci, Margherita Estienne et al. · Movement Disorders · 2000 · 52 citations

Medicine, Neurology, Pediatrics +16

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