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Matthis Synofzik

Showing results (141-150 of 511) with videos related to

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Current Neurology and Neuroscience Reports|January 17, 2025
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat ExpansionsDavid Pellerin, Pablo Iruzubieta, Isaac R L Xu, et al.
Journal of Neurology|December 12, 2024
Myelin basic protein and TREM2 quantification in the CSF of patients with Multiple System Atrophy and other Parkinsonian conditionsFabian Maass, Sezgi Canaslan, Christoph van Riesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 10, 2021
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et alJoohyun Park, Natalie Deininger, Maren Rautenberg, et al.
Cerebellum (London, England)|April 10, 2019
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in IndiaRaja A H Kuchay, Yaser Rafiq Mir, Xue Zeng, et al.
Nucleic Acid Therapeutics|September 30, 2021
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical PerspectivesMatthis Synofzik, Willeke M C van Roon-Mom, Georg Marckmann, et al.
Molecular Neurobiology|March 9, 2023
TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2Jessica Bux, Nesli Ece Sen, Isa-Maria Klink, et al.
Orphanet Journal of Rare Diseases|August 3, 2017
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological functionBenjamin Röeben, Justus Marquetand, Benjamin Bender, et al.
Brain : a Journal of Neurology|December 14, 2017
Reply: POLR3A variants in hereditary spastic paraplegia and ataxiaMartina Minnerop, Delia Kurzwelly, Tim W Rattay, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 21, 2021
Natural History of Polymerase Gamma-Related AtaxiaFriedemann Bender, Dagmar Timmann, Bart P van de Warrenburg, et al.
Journal of Neurology|January 23, 2024
Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasoundKatharina Kneer, Stephanie Straub, Julia Wittlinger, et al.
Pageof 52

Showing results (141-150 of 511) with videos related to

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Pageof 52
Current Neurology and Neuroscience Reports|January 17, 2025
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat ExpansionsDavid Pellerin, Pablo Iruzubieta, Isaac R L Xu, et al.
Journal of Neurology|December 12, 2024
Myelin basic protein and TREM2 quantification in the CSF of patients with Multiple System Atrophy and other Parkinsonian conditionsFabian Maass, Sezgi Canaslan, Christoph van Riesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 10, 2021
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et alJoohyun Park, Natalie Deininger, Maren Rautenberg, et al.
Cerebellum (London, England)|April 10, 2019
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in IndiaRaja A H Kuchay, Yaser Rafiq Mir, Xue Zeng, et al.
Nucleic Acid Therapeutics|September 30, 2021
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical PerspectivesMatthis Synofzik, Willeke M C van Roon-Mom, Georg Marckmann, et al.
Molecular Neurobiology|March 9, 2023
TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2Jessica Bux, Nesli Ece Sen, Isa-Maria Klink, et al.
Orphanet Journal of Rare Diseases|August 3, 2017
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological functionBenjamin Röeben, Justus Marquetand, Benjamin Bender, et al.
Brain : a Journal of Neurology|December 14, 2017
Reply: POLR3A variants in hereditary spastic paraplegia and ataxiaMartina Minnerop, Delia Kurzwelly, Tim W Rattay, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 21, 2021
Natural History of Polymerase Gamma-Related AtaxiaFriedemann Bender, Dagmar Timmann, Bart P van de Warrenburg, et al.
Journal of Neurology|January 23, 2024
Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasoundKatharina Kneer, Stephanie Straub, Julia Wittlinger, et al.
Pageof 52