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C Beetz

Showing results (1-10 of 10) with videos related to

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Journal of Stem Cells & Regenerative Medicine|April 3, 2014
Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cellsL Liebmann, C Beetz, M Thorwarth, et al.
Mechanisms of Development|March 24, 2004
Control of foot differentiation in Hydra: in vitro evidence that the NK-2 homeobox factor CnNK-2 autoregulates its own expression and uses pedibin as target geneS Thomsen, A Till, J Wittlieb, et al.
Neurology|February 16, 2006
Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin)J Schickel, C Beetz, C Frömmel, et al.
Neurology|August 5, 2009
Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidenceS Murphy, G Gorman, C Beetz, et al.
Molecular Genetics and Metabolism Reports|November 12, 2019
Comprehensive clinical, biochemical and genetic screening reveals four distinct <i>GBA</i> genotypes as underlying variable manifestation of Gaucher disease in a single familyP Cullufi, M Tabaku, C Beetz, et al.
European Journal of Neurology|October 6, 2007
Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegiaJ Schickel, T Pamminger, A Ehrsam, et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova|December 19, 2019
[Hereditary spastic paraplegia type 4 (SPG4) in Russian patients]G E Rudenskaya, V A Kadnikova, O P Sidorova, et al.
Clinical Genetics|February 22, 2011
First HPSE2 missense mutation in urofacial syndromeS Mahmood, C Beetz, M M Tahir, et al.
Neurology|October 13, 2006
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegiaC Beetz, A O H Nygren, J Schickel, et al.
Clinical Genetics|May 11, 2012
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510VE Sánchez-Ferrero, E Coto, C Beetz, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Journal of Stem Cells & Regenerative Medicine|April 3, 2014
Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cellsL Liebmann, C Beetz, M Thorwarth, et al.
Mechanisms of Development|March 24, 2004
Control of foot differentiation in Hydra: in vitro evidence that the NK-2 homeobox factor CnNK-2 autoregulates its own expression and uses pedibin as target geneS Thomsen, A Till, J Wittlieb, et al.
Neurology|February 16, 2006
Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin)J Schickel, C Beetz, C Frömmel, et al.
Neurology|August 5, 2009
Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidenceS Murphy, G Gorman, C Beetz, et al.
Molecular Genetics and Metabolism Reports|November 12, 2019
Comprehensive clinical, biochemical and genetic screening reveals four distinct <i>GBA</i> genotypes as underlying variable manifestation of Gaucher disease in a single familyP Cullufi, M Tabaku, C Beetz, et al.
European Journal of Neurology|October 6, 2007
Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegiaJ Schickel, T Pamminger, A Ehrsam, et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova|December 19, 2019
[Hereditary spastic paraplegia type 4 (SPG4) in Russian patients]G E Rudenskaya, V A Kadnikova, O P Sidorova, et al.
Clinical Genetics|February 22, 2011
First HPSE2 missense mutation in urofacial syndromeS Mahmood, C Beetz, M M Tahir, et al.
Neurology|October 13, 2006
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegiaC Beetz, A O H Nygren, J Schickel, et al.
Clinical Genetics|May 11, 2012
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510VE Sánchez-Ferrero, E Coto, C Beetz, et al.
Pageof 1