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Stephan Züchner

Showing results (61-70 of 198) with videos related to

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Orphanet Journal of Rare Diseases|February 15, 2017
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutationsStefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, et al.
Journal of Neurology|January 25, 2011
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2Donald S McCorquodale, Gladys Montenegro, Ainsley Peguero, et al.
Journal of the Peripheral Nervous System : JPNS|March 8, 2019
POLG mutations presenting as Charcot-Marie-Tooth diseaseJade Phillips, Steve Courel, Adriana P Rebelo, et al.
Psychiatry Research|May 25, 2007
The COMT Val158Met polymorphism and temporal lobe morphometry in healthy adultsWarren D Taylor, Stephan Züchner, Martha E Payne, et al.
Neurobiology of Aging|November 16, 2017
Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypesCarlo Wilke, Jonathan Baets, Jan L De Bleecker, et al.
American Journal of Human Genetics|July 11, 2006
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, et al.
Neurogenetics|March 28, 2006
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12Stephan Züchner, Melanie E Kail, Martha A Nance, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 5, 2013
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2Michael Gonzalez, Heather McLaughlin, Henry Houlden, et al.
Annals of Neurology|January 22, 2011
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth familyGladys Montenegro, Eric Powell, Jia Huang, et al.
Journal of the Neurological Sciences|April 17, 2016
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probandsPeter Balicza, Zoltan Grosz, Michael A Gonzalez, et al.
Pageof 20

Showing results (61-70 of 198) with videos related to

Sort By:
Pageof 20
Orphanet Journal of Rare Diseases|February 15, 2017
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutationsStefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, et al.
Journal of Neurology|January 25, 2011
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2Donald S McCorquodale, Gladys Montenegro, Ainsley Peguero, et al.
Journal of the Peripheral Nervous System : JPNS|March 8, 2019
POLG mutations presenting as Charcot-Marie-Tooth diseaseJade Phillips, Steve Courel, Adriana P Rebelo, et al.
Psychiatry Research|May 25, 2007
The COMT Val158Met polymorphism and temporal lobe morphometry in healthy adultsWarren D Taylor, Stephan Züchner, Martha E Payne, et al.
Neurobiology of Aging|November 16, 2017
Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypesCarlo Wilke, Jonathan Baets, Jan L De Bleecker, et al.
American Journal of Human Genetics|July 11, 2006
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, et al.
Neurogenetics|March 28, 2006
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12Stephan Züchner, Melanie E Kail, Martha A Nance, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 5, 2013
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2Michael Gonzalez, Heather McLaughlin, Henry Houlden, et al.
Annals of Neurology|January 22, 2011
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth familyGladys Montenegro, Eric Powell, Jia Huang, et al.
Journal of the Neurological Sciences|April 17, 2016
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probandsPeter Balicza, Zoltan Grosz, Michael A Gonzalez, et al.
Pageof 20