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Jan Senderek

Showing results (61-70 of 104) with videos related to

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Nature Genetics|October 20, 2009
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Torsten Pamminger, J Christopher Hennings, et al.
Human Genetics|November 22, 2018
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathyKatharina Vill, Wolfgang Müller-Felber, Dieter Gläser, et al.
Brain : a Journal of Neurology|May 18, 2011
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinMichaela Auer-Grumbach, Martin Weger, Regina Fink-Puches, et al.
American Journal of Human Genetics|March 19, 2002
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeatsLuiz F Onuchic, Laszlo Furu, Yasuyuki Nagasawa, et al.
Human Mutation|April 27, 2004
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Fabian Küpper, et al.
Orphanet Journal of Rare Diseases|March 19, 2013
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrumMatthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, et al.
Journal of Medical Genetics|March 23, 2022
A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exonHelle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, et al.
American Journal of Medical Genetics. Part A|April 29, 2018
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weaknessDavid Owen, Ana Töpf, Veeramani Preethish-Kumar, et al.
Brain : a Journal of Neurology|June 15, 2015
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathiesDana Safka Brozkova, Tine Deconinck, Laurie Beth Griffin, et al.
Brain Pathology (Zurich, Switzerland)|August 15, 2023
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohortJuliane Bremer, Axel Meinhardt, Istvan Katona, et al.
Pageof 11

Showing results (61-70 of 104) with videos related to

Sort By:
Pageof 11
Nature Genetics|October 20, 2009
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Torsten Pamminger, J Christopher Hennings, et al.
Human Genetics|November 22, 2018
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathyKatharina Vill, Wolfgang Müller-Felber, Dieter Gläser, et al.
Brain : a Journal of Neurology|May 18, 2011
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinMichaela Auer-Grumbach, Martin Weger, Regina Fink-Puches, et al.
American Journal of Human Genetics|March 19, 2002
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeatsLuiz F Onuchic, Laszlo Furu, Yasuyuki Nagasawa, et al.
Human Mutation|April 27, 2004
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Fabian Küpper, et al.
Orphanet Journal of Rare Diseases|March 19, 2013
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrumMatthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, et al.
Journal of Medical Genetics|March 23, 2022
A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exonHelle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, et al.
American Journal of Medical Genetics. Part A|April 29, 2018
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weaknessDavid Owen, Ana Töpf, Veeramani Preethish-Kumar, et al.
Brain : a Journal of Neurology|June 15, 2015
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathiesDana Safka Brozkova, Tine Deconinck, Laurie Beth Griffin, et al.
Brain Pathology (Zurich, Switzerland)|August 15, 2023
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohortJuliane Bremer, Axel Meinhardt, Istvan Katona, et al.
Pageof 11