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Christian Beetz

Showing results (71-80 of 160) with videos related to

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Human Mutation|March 14, 2013
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegiaRita-Eva Varga, Rebecca Schüle, Hicham Fadel, et al.
European Journal of Human Genetics : EJHG|January 27, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic settingAida M Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2021
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic ImpactChristian Beetz, Ana Westenberger, Ruslan Al-Ali, et al.
American Journal of Human Genetics|June 19, 2012
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type VChristian Beetz, Thomas R Pieber, Nicole Hertel, et al.
JAMA Neurology|August 1, 2017
Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young AdultsOmar N Pathmanaban, Katherine V Sadler, Ian D Kamaly-Asl, et al.
Journal of the Neurological Sciences|December 17, 2015
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patientsEwelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 13, 2013
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structureChristian Beetz, Adam Johnson, Amber L Schuh, et al.
Diagnostics (Basel, Switzerland)|July 12, 2020
Rapid Large-Scale COVID-19 Testing During ShortagesChristian Beetz, Volha Skrahina, Toni M Förster, et al.
Parkinson'S Disease|February 3, 2022
Prevalence of Fabry Disease among Patients with Parkinson's DiseaseAlexandra Lackova, Christian Beetz, Sebastian Oppermann, et al.
Orphanet Journal of Rare Diseases|May 3, 2022
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single centerCorina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, et al.
Pageof 16

Showing results (71-80 of 160) with videos related to

Sort By:
Pageof 16
Human Mutation|March 14, 2013
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegiaRita-Eva Varga, Rebecca Schüle, Hicham Fadel, et al.
European Journal of Human Genetics : EJHG|January 27, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic settingAida M Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2021
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic ImpactChristian Beetz, Ana Westenberger, Ruslan Al-Ali, et al.
American Journal of Human Genetics|June 19, 2012
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type VChristian Beetz, Thomas R Pieber, Nicole Hertel, et al.
JAMA Neurology|August 1, 2017
Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young AdultsOmar N Pathmanaban, Katherine V Sadler, Ian D Kamaly-Asl, et al.
Journal of the Neurological Sciences|December 17, 2015
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patientsEwelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 13, 2013
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structureChristian Beetz, Adam Johnson, Amber L Schuh, et al.
Diagnostics (Basel, Switzerland)|July 12, 2020
Rapid Large-Scale COVID-19 Testing During ShortagesChristian Beetz, Volha Skrahina, Toni M Förster, et al.
Parkinson'S Disease|February 3, 2022
Prevalence of Fabry Disease among Patients with Parkinson's DiseaseAlexandra Lackova, Christian Beetz, Sebastian Oppermann, et al.
Orphanet Journal of Rare Diseases|May 3, 2022
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single centerCorina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, et al.
Pageof 16