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Christian Beetz

Showing results (111-120 of 160) with videos related to

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Research Square|October 7, 2024
The <i>LRRK2</i> p.L1795F variant causes Parkinson's disease in the European populationLara M Lange, Kristin Levine, Susan H Fox, et al.
Biorxiv : the Preprint Server for Biology|April 1, 2025
PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson's diseaseClaire Y Chiang, Neringa Pratuseviciute, Yu-En Lin, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|November 21, 2025
REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor NeuropathyAndrea Bock, Mona Schurig, Miles Willoughby, et al.
Molecular Genetics & Genomic Medicine|May 16, 2019
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)Allison Gregory, Mitesh Lotia, Suh Young Jeong, et al.
Cell Reports|July 21, 2025
PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's diseaseClaire Y Chiang, Neringa Pratuseviciute, Yu-En Lin, et al.
NPJ Parkinson'S Disease|March 26, 2025
The LRRK2 p.L1795F variant causes Parkinson's disease in the European populationLara M Lange, Kristin Levine, Susan H Fox, et al.
Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Journal of Clinical Medicine|July 18, 2020
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot SpotsMichaela Auer-Grumbach, Rene Rettl, Klemens Ablasser, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 23, 2026
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-AnalysisLeah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
European Journal of Human Genetics : EJHG|September 15, 2017
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresiaJacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, et al.
Pageof 16

Showing results (111-120 of 160) with videos related to

Sort By:
Pageof 16
Research Square|October 7, 2024
The <i>LRRK2</i> p.L1795F variant causes Parkinson's disease in the European populationLara M Lange, Kristin Levine, Susan H Fox, et al.
Biorxiv : the Preprint Server for Biology|April 1, 2025
PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson's diseaseClaire Y Chiang, Neringa Pratuseviciute, Yu-En Lin, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|November 21, 2025
REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor NeuropathyAndrea Bock, Mona Schurig, Miles Willoughby, et al.
Molecular Genetics & Genomic Medicine|May 16, 2019
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)Allison Gregory, Mitesh Lotia, Suh Young Jeong, et al.
Cell Reports|July 21, 2025
PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's diseaseClaire Y Chiang, Neringa Pratuseviciute, Yu-En Lin, et al.
NPJ Parkinson'S Disease|March 26, 2025
The LRRK2 p.L1795F variant causes Parkinson's disease in the European populationLara M Lange, Kristin Levine, Susan H Fox, et al.
Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Journal of Clinical Medicine|July 18, 2020
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot SpotsMichaela Auer-Grumbach, Rene Rettl, Klemens Ablasser, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 23, 2026
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-AnalysisLeah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
European Journal of Human Genetics : EJHG|September 15, 2017
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresiaJacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, et al.
Pageof 16