Barbara Garavaglia

Fondazione IRCCS Istituto Neurologico Carlo Besta

Italy

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Articles (16)

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2025

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Collaborators (9)

federica rachele danti

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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GRAZIA DEVIGILI

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Valentina Leta

King's College Hospital

UNITED KINGDOM

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Sandra D'Alfonso

Università degli Studi del Piemonte Orientale Amedeo Avogadro

ITALY

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Sara Bulgheroni

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Michela Palmisani

Università degli Studi di Pavia

ITALY

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Roberto Eleopra

Chief of Neurology Unit

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Miryam Carecchio

Assistant Professor of Neurology

University of Padua

ITALY

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Fabio Moda

Assistant professor of Clinical Biochemistry and Clinical Molecular Biology

Università di Milano

ITALY

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Barbara Garavaglia

Research Interests

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Articles (16)

LC-MS/MS-Based Determination of Ambroxol in Human Plasma and Cerebrospinal Fluid: Validation and Applicability in Phase II Study on GBA-Associated Parkinson’s Disease Patients

Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant

Reply to: “Heterogeneous Phenotypic Evolution in ANO3‐Related Dystonia Due to the Recurrent p.Glu510Lys Variant”

ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia

Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years

Cerebrospinal fluid neuropathological biomarkers in beta-propeller protein-associated neurodegeneration, with complicated parkinsonian phenotype

Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study

Clinical, molecular and glycophenotype insights in SLC39A8-CDG.

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.

Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.

THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.

YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.

Collaborators (9)

federica rachele danti

GRAZIA DEVIGILI

Valentina Leta

Sandra D'Alfonso

Sara Bulgheroni

Michela Palmisani

Roberto Eleopra

Miryam Carecchio

Fabio Moda

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