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Sylvia Boesch

Showing results (1-10 of 173) with videos related to

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Frontiers in Neurology|March 19, 2021
From Genotype to Phenotype: Expanding the Clinical Spectrum of <i>CACNA1A</i> Variants in the Era of Next Generation SequencingElisabetta Indelicato, Sylvia Boesch
Movement Disorders : Official Journal of the Movement Disorder Society|June 26, 2024
Reply to: "Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions"Elisabetta Indelicato, Sylvia Boesch
Nature Reviews. Neurology|April 3, 2024
Approval of omaveloxolone for Friedreich ataxiaSylvia Boesch, Elisabetta Indelicato
Frontiers in Neuroscience|May 21, 2019
Erythropoietin and Friedreich Ataxia: Time for a Reappraisal?Sylvia Boesch, Elisabetta Indelicato
Handbook of Experimental Pharmacology|January 2, 2023
CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment OptionsElisabetta Indelicato, Sylvia Boesch
Ebiomedicine|April 17, 2024
GAA/FGF14 ataxia: an ode to the phenotype-first approachElisabetta Indelicato, Sylvia Boesch
Expert Opinion on Investigational Drugs|October 27, 2023
Experimental drugs for Friedrich's ataxia: progress and setbacks in clinical trialsSylvia Boesch, Elisabetta Indelicato
Journal of Medical Genetics|March 27, 2025
<i>AOPEP</i>-related autosomal recessive dystonia: update on Zech-Boesch syndromeSylvia Boesch, Michael Zech
Movement Disorders : Official Journal of the Movement Disorder Society|July 21, 2023
Reply to: "Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants"Elisabetta Indelicato, Sylvia Boesch, Michael Zech
Movement Disorders : Official Journal of the Movement Disorder Society|March 25, 2024
Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys VariantElisabetta Indelicato, Sylvia Boesch, Michael Zech
Pageof 18

Showing results (1-10 of 173) with videos related to

Sort By:
Pageof 18
Frontiers in Neurology|March 19, 2021
From Genotype to Phenotype: Expanding the Clinical Spectrum of <i>CACNA1A</i> Variants in the Era of Next Generation SequencingElisabetta Indelicato, Sylvia Boesch
Movement Disorders : Official Journal of the Movement Disorder Society|June 26, 2024
Reply to: "Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions"Elisabetta Indelicato, Sylvia Boesch
Nature Reviews. Neurology|April 3, 2024
Approval of omaveloxolone for Friedreich ataxiaSylvia Boesch, Elisabetta Indelicato
Frontiers in Neuroscience|May 21, 2019
Erythropoietin and Friedreich Ataxia: Time for a Reappraisal?Sylvia Boesch, Elisabetta Indelicato
Handbook of Experimental Pharmacology|January 2, 2023
CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment OptionsElisabetta Indelicato, Sylvia Boesch
Ebiomedicine|April 17, 2024
GAA/FGF14 ataxia: an ode to the phenotype-first approachElisabetta Indelicato, Sylvia Boesch
Expert Opinion on Investigational Drugs|October 27, 2023
Experimental drugs for Friedrich's ataxia: progress and setbacks in clinical trialsSylvia Boesch, Elisabetta Indelicato
Journal of Medical Genetics|March 27, 2025
<i>AOPEP</i>-related autosomal recessive dystonia: update on Zech-Boesch syndromeSylvia Boesch, Michael Zech
Movement Disorders : Official Journal of the Movement Disorder Society|July 21, 2023
Reply to: "Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants"Elisabetta Indelicato, Sylvia Boesch, Michael Zech
Movement Disorders : Official Journal of the Movement Disorder Society|March 25, 2024
Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys VariantElisabetta Indelicato, Sylvia Boesch, Michael Zech
Pageof 18