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David Hilton

Showing results (121-130 of 130) with videos related to

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Neuromuscular Disorders : NMD|January 10, 2015
205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The NetherlandsJan L De Bleecker, Boel De Paepe, Eleonora Aronica, et al.
The Journal of Clinical Investigation|February 20, 2018
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutationsYouJin Lee, Per Harald Jonson, Jaakko Sarparanta, et al.
Neuromuscular Disorders : NMD|June 18, 2016
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathiesRenata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, et al.
Neurobiology of Aging|September 6, 2016
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositisQiang Gang, Conceição Bettencourt, Pedro M Machado, et al.
Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.
Brain : a Journal of Neurology|April 15, 2014
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceGerald Pfeffer, Gráinne S Gorman, Helen Griffin, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology|September 20, 2011
Cost of disorders of the brain in Europe 2010Anders Gustavsson, Mikael Svensson, Frank Jacobi, et al.
Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.
Pageof 13

Showing results (121-130 of 130) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 130 results.
Neuromuscular Disorders : NMD|January 10, 2015
205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The NetherlandsJan L De Bleecker, Boel De Paepe, Eleonora Aronica, et al.
The Journal of Clinical Investigation|February 20, 2018
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutationsYouJin Lee, Per Harald Jonson, Jaakko Sarparanta, et al.
Neuromuscular Disorders : NMD|June 18, 2016
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathiesRenata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, et al.
Neurobiology of Aging|September 6, 2016
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositisQiang Gang, Conceição Bettencourt, Pedro M Machado, et al.
Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.
Brain : a Journal of Neurology|April 15, 2014
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceGerald Pfeffer, Gráinne S Gorman, Helen Griffin, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology|September 20, 2011
Cost of disorders of the brain in Europe 2010Anders Gustavsson, Mikael Svensson, Frank Jacobi, et al.
Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.
Pageof 13