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Jennifer Friedman

Showing results (51-60 of 90) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|January 5, 2008
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutationsDeborah Raymond, Rachel Saunders-Pullman, Patricia de Carvalho Aguiar, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 2, 2023
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of MetabolismLisette H Koens, Marrit R Klamer, Deborah A Sival, et al.
Clinical Genetics|May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
Journal of Inherited Metabolic Disease|February 14, 2021
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDGHind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, et al.
HGG Advances|December 24, 2021
<i>AHDC1</i> missense mutations in Xia-Gibbs syndromeMichael M Khayat, Jianhong Hu, Yunyun Jiang, et al.
Movement Disorders Clinical Practice|May 19, 2023
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on PediatricsTamara Pringsheim, Amit Batla, Ali Shalash, et al.
Parkinsonism & Related Disorders|May 27, 2026
Essential genetic testing in movement disorders - results from a Delphi studyVanessa Carvalho, Leonor Correia Guedes, Emilia Gatto, et al.
Annals of Neurology|April 24, 2012
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsyJennifer Friedman, Emmanuel Roze, Jose E Abdenur, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Pageof 9

Showing results (51-60 of 90) with videos related to

Sort By:
Pageof 9
Movement Disorders : Official Journal of the Movement Disorder Society|January 5, 2008
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutationsDeborah Raymond, Rachel Saunders-Pullman, Patricia de Carvalho Aguiar, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 2, 2023
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of MetabolismLisette H Koens, Marrit R Klamer, Deborah A Sival, et al.
Clinical Genetics|May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
Journal of Inherited Metabolic Disease|February 14, 2021
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDGHind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, et al.
HGG Advances|December 24, 2021
<i>AHDC1</i> missense mutations in Xia-Gibbs syndromeMichael M Khayat, Jianhong Hu, Yunyun Jiang, et al.
Movement Disorders Clinical Practice|May 19, 2023
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on PediatricsTamara Pringsheim, Amit Batla, Ali Shalash, et al.
Parkinsonism & Related Disorders|May 27, 2026
Essential genetic testing in movement disorders - results from a Delphi studyVanessa Carvalho, Leonor Correia Guedes, Emilia Gatto, et al.
Annals of Neurology|April 24, 2012
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsyJennifer Friedman, Emmanuel Roze, Jose E Abdenur, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Pageof 9