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Patrick Frosk

Showing results (11-20 of 34) with videos related to

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Annals of Neurology|March 24, 2005
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2HBenedikt G H Schoser, Patrick Frosk, Andrew G Engel, et al.
The Journal of Biological Chemistry|July 4, 2006
The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaBAmador Albor, Sally El-Hizawi, Elizabeth J Horn, et al.
American Journal of Human Genetics|February 1, 2002
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase genePatrick Frosk, Tracey Weiler, Edward Nylen, et al.
BMC Medical Genetics|May 1, 2015
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literaturePatrick Frosk, Bernard Chodirker, Louise Simard, et al.
Brain : a Journal of Neurology|February 4, 2005
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohortChristopher B R Funk, Asuri N Prasad, Patrick Frosk, et al.
JIMD Reports|January 23, 2026
Identification of Additional Cases of Severe Neonatal GABA-Transaminase DeficiencyDeima Alammary, Tisiana Low, Ganesh Srinivasan, et al.
Stem Cell Research|October 24, 2024
Generation of IPi002-A/B/C human induced pluripotent stem cell lines from MARCH amniotic fluid cellsMikaël Boullé, Ambre Leleu, Siham Schacre, et al.
Annals of Neurology|October 27, 2004
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2IMaja Poppe, John Bourke, Michelle Eagle, et al.
Clinical Dysmorphology|October 10, 2020
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephalyAngelika J Dawson, Karine Hovanes, Jing Liu, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|May 30, 2018
The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variantHenry Y Lu, Mehul Sharma, Catherine M Biggs, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
Annals of Neurology|March 24, 2005
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2HBenedikt G H Schoser, Patrick Frosk, Andrew G Engel, et al.
The Journal of Biological Chemistry|July 4, 2006
The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaBAmador Albor, Sally El-Hizawi, Elizabeth J Horn, et al.
American Journal of Human Genetics|February 1, 2002
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase genePatrick Frosk, Tracey Weiler, Edward Nylen, et al.
BMC Medical Genetics|May 1, 2015
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literaturePatrick Frosk, Bernard Chodirker, Louise Simard, et al.
Brain : a Journal of Neurology|February 4, 2005
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohortChristopher B R Funk, Asuri N Prasad, Patrick Frosk, et al.
JIMD Reports|January 23, 2026
Identification of Additional Cases of Severe Neonatal GABA-Transaminase DeficiencyDeima Alammary, Tisiana Low, Ganesh Srinivasan, et al.
Stem Cell Research|October 24, 2024
Generation of IPi002-A/B/C human induced pluripotent stem cell lines from MARCH amniotic fluid cellsMikaël Boullé, Ambre Leleu, Siham Schacre, et al.
Annals of Neurology|October 27, 2004
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2IMaja Poppe, John Bourke, Michelle Eagle, et al.
Clinical Dysmorphology|October 10, 2020
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephalyAngelika J Dawson, Karine Hovanes, Jing Liu, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|May 30, 2018
The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variantHenry Y Lu, Mehul Sharma, Catherine M Biggs, et al.
Pageof 4