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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

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Christian Beetz

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Human Molecular Genetics|May 5, 2022

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiencyKorbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, et al.

BMC Neurology|October 12, 2010

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegiaVictoria Alvarez, Elena Sánchez-Ferrero, Christian Beetz, et al.

Brain : a Journal of Neurology|January 25, 2014

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.

Diagnostics (Basel, Switzerland)|September 9, 2023

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF StudyFilipa Curado, Sabine Rösner, Susanne Zielke, et al.

Brain : a Journal of Neurology|May 15, 2009

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.

Medrxiv : the Preprint Server for Health Sciences|June 26, 2025

<i>RAB32</i> -linked Parkinson's disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.

Human Mutation|August 6, 2016

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, et al.

Parkinsonism & Related Disorders|March 21, 2025

18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variantFrancesco Cavallieri, Alessandro Fraternali, Annachiara Arnone, et al.

Annals of Clinical and Translational Neurology|July 23, 2022

GGPS1-associated muscular dystrophy with and without hearing lossRauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, et al.

Movement Disorders : Official Journal of the Movement Disorder Society|October 17, 2025

RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe CriteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.

Pageof 16

Search research articles

Showing results (101-110 of 160) with videos related to

Sort By:

Pageof 16

Human Molecular Genetics|May 5, 2022

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiencyKorbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, et al.

BMC Neurology|October 12, 2010

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegiaVictoria Alvarez, Elena Sánchez-Ferrero, Christian Beetz, et al.

Brain : a Journal of Neurology|January 25, 2014

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.

Diagnostics (Basel, Switzerland)|September 9, 2023

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF StudyFilipa Curado, Sabine Rösner, Susanne Zielke, et al.

Brain : a Journal of Neurology|May 15, 2009

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.

Medrxiv : the Preprint Server for Health Sciences|June 26, 2025

<i>RAB32</i> -linked Parkinson's disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.

Human Mutation|August 6, 2016

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, et al.

Parkinsonism & Related Disorders|March 21, 2025

18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variantFrancesco Cavallieri, Alessandro Fraternali, Annachiara Arnone, et al.

Annals of Clinical and Translational Neurology|July 23, 2022

GGPS1-associated muscular dystrophy with and without hearing lossRauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, et al.

Movement Disorders : Official Journal of the Movement Disorder Society|October 17, 2025

RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe CriteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.

Pageof 16