Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Matilde Laurá

Showing results (11-20 of 29) with videos related to

Pageof 3
Sort By:
Muscle & Nerve|December 29, 2023
Home-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A: A proof of concept studyMagdalena M Dudziec, Laurence E Lee, Charlotte Massey, et al.
European Journal of Neurology|February 27, 2024
Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1APedro José Tomaselli, Julian Blake, James M Polke, et al.
Journal of the Peripheral Nervous System : JPNS|December 20, 2011
c-Jun expression in human neuropathies: a pilot studyElspeth J Hutton, Lucy Carty, Matilde Laurá, et al.
Journal of the Peripheral Nervous System : JPNS|January 14, 2015
A pilot study of proximal strength training in Charcot-Marie-Tooth diseaseGita M Ramdharry, Alexander Pollard, Cheryl Anderson, et al.
Disability and Rehabilitation|September 30, 2016
A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjectsGita M Ramdharry, Alexander J Pollard, Robert Grant, et al.
Clinical Biomechanics (Bristol, Avon)|March 20, 2012
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth diseaseJoshua Burns, Robert Ouvrier, Tim Estilow, et al.
The Journal of Biological Chemistry|January 26, 2010
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipidsAnke Penno, Mary M Reilly, Henry Houlden, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 13, 2013
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationYo-Tsen Liu, Joshua Hersheson, Vincent Plagnol, et al.
Annals of Neurology|April 24, 2012
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disabilityJoshua Burns, Robert Ouvrier, Tim Estilow, et al.
Neuromolecular Medicine|January 9, 2015
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificityDaniela Ernst, Sinéad M Murphy, Karthik Sathiyanadan, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Muscle & Nerve|December 29, 2023
Home-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A: A proof of concept studyMagdalena M Dudziec, Laurence E Lee, Charlotte Massey, et al.
European Journal of Neurology|February 27, 2024
Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1APedro José Tomaselli, Julian Blake, James M Polke, et al.
Journal of the Peripheral Nervous System : JPNS|December 20, 2011
c-Jun expression in human neuropathies: a pilot studyElspeth J Hutton, Lucy Carty, Matilde Laurá, et al.
Journal of the Peripheral Nervous System : JPNS|January 14, 2015
A pilot study of proximal strength training in Charcot-Marie-Tooth diseaseGita M Ramdharry, Alexander Pollard, Cheryl Anderson, et al.
Disability and Rehabilitation|September 30, 2016
A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjectsGita M Ramdharry, Alexander J Pollard, Robert Grant, et al.
Clinical Biomechanics (Bristol, Avon)|March 20, 2012
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth diseaseJoshua Burns, Robert Ouvrier, Tim Estilow, et al.
The Journal of Biological Chemistry|January 26, 2010
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipidsAnke Penno, Mary M Reilly, Henry Houlden, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 13, 2013
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationYo-Tsen Liu, Joshua Hersheson, Vincent Plagnol, et al.
Annals of Neurology|April 24, 2012
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disabilityJoshua Burns, Robert Ouvrier, Tim Estilow, et al.
Neuromolecular Medicine|January 9, 2015
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificityDaniela Ernst, Sinéad M Murphy, Karthik Sathiyanadan, et al.
Pageof 3