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Matthis Synofzik

Showing results (151-160 of 511) with videos related to

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Molecular Genetics & Genomic Medicine|May 27, 2017
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxiasDana M Bis, Rebecca Schüle, Jennifer Reichbauer, et al.
Plos One|February 27, 2016
Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS PatientsIsil Keskin, Elin Forsgren, Dale J Lange, et al.
BMC Medical Research Methodology|July 30, 2025
Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias using the SARA scoreNiels Hendrickx, France Mentré, Alzahra Hamdan, et al.
Journal of the Neurological Sciences|August 1, 2020
Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenayDax Bourcier, Mathieu Bélanger, Isabelle Côté, et al.
Clinical Pharmacology and Therapeutics|October 15, 2024
Longitudinal Analysis of Natural History Progression of Rare and Ultra-Rare Cerebellar Ataxias Using Item Response TheoryAlzahra Hamdan, Niels Hendrickx, Andrew C Hooker, et al.
Cerebellum (London, England)|October 8, 2022
French Translation and Cross-cultural Adaptation of the Scale for the Assessment and Rating of AtaxiaDax Bourcier, Nicolas Bélair, Élyse-Anne Pedneault-Tremblay, et al.
Neurobiology of Aging|August 16, 2012
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotypeMatthis Synofzik, Walter Maetzler, Torsten Grehl, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 7, 2024
Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX)Lukas Beichert, Winfried Ilg, Christoph Kessler, et al.
RNA (New York, N.Y.)|January 20, 2023
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerationsAnnemieke Aartsma-Rus, Willeke van Roon-Mom, Marlen Lauffer, et al.
Neuropediatrics|April 1, 2021
Pitfalls in Genetic Diagnostics: Why Phenotyping is EssentialJanina Gburek-Augustat, Jan-Christoph Schoene-Bake, Eva Bültmann, et al.
Pageof 52

Showing results (151-160 of 511) with videos related to

Sort By:
Pageof 52
Molecular Genetics & Genomic Medicine|May 27, 2017
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxiasDana M Bis, Rebecca Schüle, Jennifer Reichbauer, et al.
Plos One|February 27, 2016
Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS PatientsIsil Keskin, Elin Forsgren, Dale J Lange, et al.
BMC Medical Research Methodology|July 30, 2025
Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias using the SARA scoreNiels Hendrickx, France Mentré, Alzahra Hamdan, et al.
Journal of the Neurological Sciences|August 1, 2020
Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenayDax Bourcier, Mathieu Bélanger, Isabelle Côté, et al.
Clinical Pharmacology and Therapeutics|October 15, 2024
Longitudinal Analysis of Natural History Progression of Rare and Ultra-Rare Cerebellar Ataxias Using Item Response TheoryAlzahra Hamdan, Niels Hendrickx, Andrew C Hooker, et al.
Cerebellum (London, England)|October 8, 2022
French Translation and Cross-cultural Adaptation of the Scale for the Assessment and Rating of AtaxiaDax Bourcier, Nicolas Bélair, Élyse-Anne Pedneault-Tremblay, et al.
Neurobiology of Aging|August 16, 2012
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotypeMatthis Synofzik, Walter Maetzler, Torsten Grehl, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 7, 2024
Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX)Lukas Beichert, Winfried Ilg, Christoph Kessler, et al.
RNA (New York, N.Y.)|January 20, 2023
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerationsAnnemieke Aartsma-Rus, Willeke van Roon-Mom, Marlen Lauffer, et al.
Neuropediatrics|April 1, 2021
Pitfalls in Genetic Diagnostics: Why Phenotyping is EssentialJanina Gburek-Augustat, Jan-Christoph Schoene-Bake, Eva Bültmann, et al.
Pageof 52