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Frontiers in Neurology
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March 19, 2021
From Genotype to Phenotype: Expanding the Clinical Spectrum of <i>CACNA1A</i> Variants in the Era of Next Generation Sequencing
Elisabetta 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 ataxia
Sylvia 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 Options
Elisabetta Indelicato, Sylvia Boesch
Ebiomedicine
|
April 17, 2024
GAA/FGF14 ataxia: an ode to the phenotype-first approach
Elisabetta Indelicato, Sylvia Boesch
Expert Opinion on Investigational Drugs
|
October 27, 2023
Experimental drugs for Friedrich's ataxia: progress and setbacks in clinical trials
Sylvia Boesch, Elisabetta Indelicato
Journal of Medical Genetics
|
March 27, 2025
<i>AOPEP</i>-related autosomal recessive dystonia: update on Zech-Boesch syndrome
Sylvia 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 Variant
Elisabetta Indelicato, Sylvia Boesch, Michael Zech
Page
of 18
Search research articles
Search
Showing results (1-10 of 173) with videos related to
Sort By:
Page
of 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 Sequencing
Elisabetta 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 ataxia
Sylvia 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 Options
Elisabetta Indelicato, Sylvia Boesch
Ebiomedicine
|
April 17, 2024
GAA/FGF14 ataxia: an ode to the phenotype-first approach
Elisabetta Indelicato, Sylvia Boesch
Expert Opinion on Investigational Drugs
|
October 27, 2023
Experimental drugs for Friedrich's ataxia: progress and setbacks in clinical trials
Sylvia Boesch, Elisabetta Indelicato
Journal of Medical Genetics
|
March 27, 2025
<i>AOPEP</i>-related autosomal recessive dystonia: update on Zech-Boesch syndrome
Sylvia 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 Variant
Elisabetta Indelicato, Sylvia Boesch, Michael Zech
Page
of 18