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Brain : a Journal of Neurology
|
February 5, 2003
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
Jan Senderek, Carsten Bergmann, Vincent T Ramaekers, et al.
Neurology
|
January 9, 2015
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy
Gudrun Schottmann, Heinz Jungbluth, Ulrike Schara, et al.
Brain : a Journal of Neurology
|
June 5, 2016
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
Emily O'Connor, Ana Töpf, Juliane S Müller, et al.
Clinical Genetics
|
October 10, 2018
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy
Matthias Baumann, Herbert Schreiber, Beate Schlotter-Weigel, et al.
Glia
|
April 5, 2013
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling
Estelle Arnaud Gouttenoire, Vincenzo Lupo, Eduardo Calpena, et al.
Neuromuscular Disorders : NMD
|
May 31, 2008
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
Isabelle Gosselin, Isabelle Thiffault, Martine Tétreault, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 7, 2009
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
Estelle Arnaud, Jennifer Zenker, Anne-Sophie de Preux Charles, et al.
Journal of Neuromuscular Diseases
|
July 3, 2026
Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study
Katharina Vill, Moritz Tacke, Anna König, et al.
Journal of the American Society of Nephrology : JASN
|
July 23, 2003
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
Laszlo Furu, Luiz F Onuchic, Ali Gharavi, et al.
Brain : a Journal of Neurology
|
November 23, 2012
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells
Michael Horn, Reto Baumann, Jorge A Pereira, et al.
Page
of 11
Search research articles
Search
Showing results (41-50 of 104) with videos related to
Sort By:
Page
of 11
Brain : a Journal of Neurology
|
February 5, 2003
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
Jan Senderek, Carsten Bergmann, Vincent T Ramaekers, et al.
Neurology
|
January 9, 2015
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy
Gudrun Schottmann, Heinz Jungbluth, Ulrike Schara, et al.
Brain : a Journal of Neurology
|
June 5, 2016
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
Emily O'Connor, Ana Töpf, Juliane S Müller, et al.
Clinical Genetics
|
October 10, 2018
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy
Matthias Baumann, Herbert Schreiber, Beate Schlotter-Weigel, et al.
Glia
|
April 5, 2013
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling
Estelle Arnaud Gouttenoire, Vincenzo Lupo, Eduardo Calpena, et al.
Neuromuscular Disorders : NMD
|
May 31, 2008
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
Isabelle Gosselin, Isabelle Thiffault, Martine Tétreault, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 7, 2009
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
Estelle Arnaud, Jennifer Zenker, Anne-Sophie de Preux Charles, et al.
Journal of Neuromuscular Diseases
|
July 3, 2026
Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study
Katharina Vill, Moritz Tacke, Anna König, et al.
Journal of the American Society of Nephrology : JASN
|
July 23, 2003
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
Laszlo Furu, Luiz F Onuchic, Ali Gharavi, et al.
Brain : a Journal of Neurology
|
November 23, 2012
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells
Michael Horn, Reto Baumann, Jorge A Pereira, et al.
Page
of 11