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Christian Beetz

Showing results (121-130 of 160) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
The <i>GBA1</i> p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-AnalysisLeah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
Biological Psychiatry|March 1, 2022
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit FliesAhmed H Al-Amri, Paul Armstrong, Mascia Amici, et al.
American Journal of Human Genetics|September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunctionKatrin Koehler, Meera Malik, Saqib Mahmood, et al.
Brain : a Journal of Neurology|July 25, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Reza Maroofian, Marcello Scala, et al.
Human Genetics|October 13, 2020
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathyAshfaque Ahmed, Meng Wang, Gaber Bergant, et al.
Frontiers in Pediatrics|May 31, 2021
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic DataMajid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 24, 2025
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease PatientsChristian A Ganoza, Ana Westenberger, Jefri J Paul, et al.
American Journal of Human Genetics|January 15, 2013
LRIG2 mutations cause urofacial syndromeHelen M Stuart, Neil A Roberts, Berk Burgu, et al.
American Journal of Human Genetics|September 3, 2016
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMichaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, et al.
Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.
Pageof 16

Showing results (121-130 of 160) with videos related to

Sort By:
Pageof 16
Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
The <i>GBA1</i> p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-AnalysisLeah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
Biological Psychiatry|March 1, 2022
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit FliesAhmed H Al-Amri, Paul Armstrong, Mascia Amici, et al.
American Journal of Human Genetics|September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunctionKatrin Koehler, Meera Malik, Saqib Mahmood, et al.
Brain : a Journal of Neurology|July 25, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Reza Maroofian, Marcello Scala, et al.
Human Genetics|October 13, 2020
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathyAshfaque Ahmed, Meng Wang, Gaber Bergant, et al.
Frontiers in Pediatrics|May 31, 2021
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic DataMajid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 24, 2025
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease PatientsChristian A Ganoza, Ana Westenberger, Jefri J Paul, et al.
American Journal of Human Genetics|January 15, 2013
LRIG2 mutations cause urofacial syndromeHelen M Stuart, Neil A Roberts, Berk Burgu, et al.
American Journal of Human Genetics|September 3, 2016
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMichaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, et al.
Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.
Pageof 16