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Showing results (211-220 of 239) with videos related to

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Journal of Neurology|January 15, 2025
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathyPablo Iruzubieta, José Verdú-Díaz, Ana Töpf, et al.
Neurology|May 14, 2017
Neurofilament markers for ALS correlate with extent of upper and lower motor neuron diseaseKoen Poesen, Maxim De Schaepdryver, Beatrice Stubendorff, et al.
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.
Journal of Neurology, Neurosurgery, and Psychiatry|April 14, 2018
Comprehensive analysis of the mutation spectrum in 301 German ALS familiesKathrin Müller, David Brenner, Patrick Weydt, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 9, 2013
PRRT2 mutations: exploring the phenotypical boundariesTania Djémié, Sarah Weckhuysen, Philip Holmgren, et al.
Journal of Neurochemistry|September 14, 2017
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathiesMaike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, 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.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Brain : a Journal of Neurology|June 10, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in EuropeGorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, et al.
Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.
Pageof 24

Showing results (211-220 of 239) with videos related to

Sort By:
Pageof 24
Journal of Neurology|January 15, 2025
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathyPablo Iruzubieta, José Verdú-Díaz, Ana Töpf, et al.
Neurology|May 14, 2017
Neurofilament markers for ALS correlate with extent of upper and lower motor neuron diseaseKoen Poesen, Maxim De Schaepdryver, Beatrice Stubendorff, et al.
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.
Journal of Neurology, Neurosurgery, and Psychiatry|April 14, 2018
Comprehensive analysis of the mutation spectrum in 301 German ALS familiesKathrin Müller, David Brenner, Patrick Weydt, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 9, 2013
PRRT2 mutations: exploring the phenotypical boundariesTania Djémié, Sarah Weckhuysen, Philip Holmgren, et al.
Journal of Neurochemistry|September 14, 2017
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathiesMaike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, 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.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Brain : a Journal of Neurology|June 10, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in EuropeGorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, et al.
Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.
Pageof 24