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Jan Senderek

Showing results (81-90 of 104) with videos related to

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Human Molecular Genetics|June 20, 2013
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth diseaseHamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, et al.
Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.
Brain : a Journal of Neurology|December 11, 2023
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosisJulia Zibold, Lola E R Lessard, Flavien Picard, et al.
Nature Genetics|May 1, 2012
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationJijun Wan, Michael Yourshaw, Hafsa Mamsa, et al.
American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Brain : a Journal of Neurology|February 14, 2015
Defects of mutant DNMT1 are linked to a spectrum of neurological disordersJonathan Baets, Xiaohui Duan, Yanhong Wu, et al.
American Journal of Human Genetics|August 23, 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B Haack, Erika Ignatius, Javier Calvo-Garrido, et al.
Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.
American Journal of Human Genetics|September 3, 2016
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMichaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, et al.
Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.
Pageof 11

Showing results (81-90 of 104) with videos related to

Sort By:
Pageof 11
Human Molecular Genetics|June 20, 2013
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth diseaseHamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, et al.
Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.
Brain : a Journal of Neurology|December 11, 2023
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosisJulia Zibold, Lola E R Lessard, Flavien Picard, et al.
Nature Genetics|May 1, 2012
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationJijun Wan, Michael Yourshaw, Hafsa Mamsa, et al.
American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Brain : a Journal of Neurology|February 14, 2015
Defects of mutant DNMT1 are linked to a spectrum of neurological disordersJonathan Baets, Xiaohui Duan, Yanhong Wu, et al.
American Journal of Human Genetics|August 23, 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B Haack, Erika Ignatius, Javier Calvo-Garrido, et al.
Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.
American Journal of Human Genetics|September 3, 2016
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMichaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, et al.
Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.
Pageof 11