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Birgit Assmann

Showing results (21-30 of 44) with videos related to

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Journal of Neurology, Neurosurgery, and Psychiatry|May 24, 2023
Genotype-phenotype correlation and treatment effects in young patients with <i>GNAO1</i>-associated disordersMoritz Thiel, Daniel Bamborschke, Wibke G Janzarik, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 18, 2017
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task forceConnie Marras, Anthony Lang, Bart P van de Warrenburg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 16, 2016
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task forceConnie Marras, Anthony Lang, Bart P van de Warrenburg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 14, 2016
Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!Christine Klein, Anthony Lang, Bart P van de Warrenburg, et al.
Journal of Human Genetics|August 8, 2019
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Journal of Human Genetics|June 6, 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Molecular Genetics and Metabolism|February 13, 2022
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activityDoreen Dobritzsch, Judith Meijer, Rutger Meinsma, et al.
Brain : a Journal of Neurology|December 22, 2020
Early-onset phenotype of bi-allelic GRN mutationsCaroline Neuray, Tipu Sultan, Javeira Raza Alvi, et al.
Journal of Inherited Metabolic Disease|November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) DeficiencyMariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.
Orphanet Journal of Rare Diseases|January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyTessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
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Showing results (21-30 of 44) with videos related to

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Pageof 5
Journal of Neurology, Neurosurgery, and Psychiatry|May 24, 2023
Genotype-phenotype correlation and treatment effects in young patients with <i>GNAO1</i>-associated disordersMoritz Thiel, Daniel Bamborschke, Wibke G Janzarik, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 18, 2017
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task forceConnie Marras, Anthony Lang, Bart P van de Warrenburg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 16, 2016
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task forceConnie Marras, Anthony Lang, Bart P van de Warrenburg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 14, 2016
Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!Christine Klein, Anthony Lang, Bart P van de Warrenburg, et al.
Journal of Human Genetics|August 8, 2019
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Journal of Human Genetics|June 6, 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Molecular Genetics and Metabolism|February 13, 2022
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activityDoreen Dobritzsch, Judith Meijer, Rutger Meinsma, et al.
Brain : a Journal of Neurology|December 22, 2020
Early-onset phenotype of bi-allelic GRN mutationsCaroline Neuray, Tipu Sultan, Javeira Raza Alvi, et al.
Journal of Inherited Metabolic Disease|November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) DeficiencyMariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.
Orphanet Journal of Rare Diseases|January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyTessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Pageof 5