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Christian Beetz

Showing results (81-90 of 160) with videos related to

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European Journal of Human Genetics : EJHG|May 13, 2010
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)Nina A Schlipf, Christian Beetz, Rebecca Schüle, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
European Journal of Human Genetics : EJHG|September 27, 2007
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigreeMiguel Mitne-Neto, Fernando Kok, Christian Beetz, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 19, 2014
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutationsMiriam J Smith, Christian Beetz, Simon G Williams, et al.
Orphanet Journal of Rare Diseases|August 29, 2019
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeClaudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, et al.
Human Mutation|March 9, 2007
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole causeChristian Beetz, Stephan Zuchner, Allison Ashley-Koch, et al.
Plos Genetics|August 19, 2015
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11Rita-Eva Varga, Mukhran Khundadze, Markus Damme, et al.
Plos Genetics|December 25, 2013
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal systemMukhran Khundadze, Katrin Kollmann, Nicole Koch, et al.
NPJ Genomic Medicine|October 21, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utilityHuma Cheema, Aida M Bertoli-Avella, Volha Skrahina, et al.
Pageof 16

Showing results (81-90 of 160) with videos related to

Sort By:
Pageof 16
European Journal of Human Genetics : EJHG|May 13, 2010
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)Nina A Schlipf, Christian Beetz, Rebecca Schüle, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
European Journal of Human Genetics : EJHG|September 27, 2007
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigreeMiguel Mitne-Neto, Fernando Kok, Christian Beetz, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 19, 2014
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutationsMiriam J Smith, Christian Beetz, Simon G Williams, et al.
Orphanet Journal of Rare Diseases|August 29, 2019
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeClaudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, et al.
Human Mutation|March 9, 2007
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole causeChristian Beetz, Stephan Zuchner, Allison Ashley-Koch, et al.
Plos Genetics|August 19, 2015
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11Rita-Eva Varga, Mukhran Khundadze, Markus Damme, et al.
Plos Genetics|December 25, 2013
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal systemMukhran Khundadze, Katrin Kollmann, Nicole Koch, et al.
NPJ Genomic Medicine|October 21, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utilityHuma Cheema, Aida M Bertoli-Avella, Volha Skrahina, et al.
Pageof 16