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Alice R Gardiner

Showing results (1-10 of 8) with videos related to

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Orphanet Journal of Rare Diseases|May 2, 2015
Rhabdomyolysis: a genetic perspectiveRenata Siciliani Scalco, Alice R Gardiner, Robert Ds Pitceathly, et al.
JIMD Reports|November 20, 2019
The need for biochemical testing in beta-enolase deficiency in the genomic eraRalph Wigley, Renata S Scalco, Alice R Gardiner, et al.
Neuromuscular Disorders : NMD|February 10, 2018
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)Mahalekshmi Desikan, Renata Siciliani Scalco, Andreea Manole, et al.
Brain : a Journal of Neurology|November 25, 2015
The clinical and genetic heterogeneity of paroxysmal dyskinesiasAlice R Gardiner, Fatima Jaffer, Russell C Dale, et al.
Developmental Medicine and Child Neurology|February 1, 2013
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutationsLaura Silveira-Moriyama, Alice R Gardiner, Esther Meyer, et al.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Neurology|October 19, 2012
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraineAlice R Gardiner, Kailash P Bhatia, Maria Stamelou, 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.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Orphanet Journal of Rare Diseases|May 2, 2015
Rhabdomyolysis: a genetic perspectiveRenata Siciliani Scalco, Alice R Gardiner, Robert Ds Pitceathly, et al.
JIMD Reports|November 20, 2019
The need for biochemical testing in beta-enolase deficiency in the genomic eraRalph Wigley, Renata S Scalco, Alice R Gardiner, et al.
Neuromuscular Disorders : NMD|February 10, 2018
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)Mahalekshmi Desikan, Renata Siciliani Scalco, Andreea Manole, et al.
Brain : a Journal of Neurology|November 25, 2015
The clinical and genetic heterogeneity of paroxysmal dyskinesiasAlice R Gardiner, Fatima Jaffer, Russell C Dale, et al.
Developmental Medicine and Child Neurology|February 1, 2013
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutationsLaura Silveira-Moriyama, Alice R Gardiner, Esther Meyer, et al.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Neurology|October 19, 2012
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraineAlice R Gardiner, Kailash P Bhatia, Maria Stamelou, 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.
Pageof 1