roberta battini

University of Pisa

Italy

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Articles (20)

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Collaborators (20)

Christiane Zweier

SWITZERLAND

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Cleanthe Spanaki

Associate Professor

University of Crete School of Medicine

GREECE

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Alexandra Lautarescu

King's College London

UNITED KINGDOM

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Mohmad Farooq Shaikh

Charles Sturt University

AUSTRALIA

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Pietro FERRARA

Professore Ordinario

Università Campus Bio-Medico di Roma

ITALY

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Georgios Koutsis

Associate Professor of Neurology and Neurogenetics

Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole

GREECE

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Mercedes Serrano

Associate Professor

University of Barcelona

SPAIN

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Gabriela Elena Oprea

Lab director / Chief Operating Officer

GERMANY

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Sally Ann Lynch

IRELAND

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Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

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Duccio Maria Cordelli

University of Bologna

ITALY

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William Dobyns

Professor

University of Minnesota

UNITED STATES

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Anna Capasso

Agostino Gemelli University Polyclinic

ITALY

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Grainne McAlonan

King’s College London

UNITED KINGDOM

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Sara Calderoni

University of Pisa

ITALY

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Cristina Dias

King’s College London

UNITED KINGDOM

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Jacqueline Borg

Karolinska Institutet

SWEDEN

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Davide Gabellini

Contract Professor

Vita-Salute San Raffaele University

ITALY

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Nuno Madeira

Invited Assistant Professor

Universidade do Porto Faculdade de Medicina

PORTUGAL

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GIUSEPPE PRENCIPE

University of Pisa

ITALY

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roberta battini

Research Interests

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Articles (20)

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson’s Disease

Screening of Neurodevelopmental and Psychiatric Disorders in School-Aged Children from Sahrawi Refugee Camp: A Cross-Sectional Observational Study

Arginase 1 deficiency: a treatable form of spastic paraplegia

Arginase 1 deficiency: a treatable form of spastic paraplegia

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Cerebral Palsy in a Rural Desert Population of Southern Algeria: A Cross-Sectional Study of Epidemiology of Comorbidities and Unmet Needs

Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study

European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature

Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update

Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus

Assessment of Postural Control in Children with Movement Disorders by Means of a New Technological Tool: A Pilot Study

Case report: Exploring chemoradiotherapy-induced leukoencephalopathy with 7T imaging and quantitative susceptibility mapping

Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study

Children and Young Adults with Epilepsy Exhibit an Interictal Autonomic Dysfunction: A Prospective Exploratory Study

Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study

Collaborators (20)

Christiane Zweier

Cleanthe Spanaki

Alexandra Lautarescu

Mohmad Farooq Shaikh

Pietro FERRARA

Georgios Koutsis

Mercedes Serrano

Gabriela Elena Oprea

Sally Ann Lynch

Manuela Morleo

Duccio Maria Cordelli

William Dobyns

Anna Capasso

Grainne McAlonan

Sara Calderoni

Cristina Dias

Jacqueline Borg

Davide Gabellini

Nuno Madeira

GIUSEPPE PRENCIPE

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