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Human Mutation
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January 3, 2013
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture
Alessandro Romano, Alessandra Tessa, Amilcare Barca, et al.
Neuromuscular Disorders : NMD
|
October 27, 2009
Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity
Roberto Massa, Alessandra Tessa, Maria Margollicci, et al.
Journal of Child Neurology
|
November 10, 2006
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism
Denise Cassandrini, Salvatore Savasta, Mauro Bozzola, et al.
Neuromuscular Disorders : NMD
|
September 24, 2009
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene
Michela Catteruccia, Tommaso Sanna, Filippo Maria Santorelli, et al.
Muscle & Nerve
|
September 25, 2003
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene
Claudio Bruno, Filippo M Santorelli, Stefania Assereto, et al.
Journal of the Neurological Sciences
|
April 18, 2021
Neuroimaging patterns in paediatric onset hereditary spastic paraplegias
Claudia Dosi, Rosa Pasquariello, Chiara Ticci, et al.
Neuropediatrics
|
July 26, 2024
Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature
Francesca M A Papoff, Guja Astrea, Serena Mero, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 9, 2006
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis
Maria Bonsignore, Alessandra Tessa, Gabriella Di Rosa, et al.
International Journal of Molecular Sciences
|
August 12, 2023
A Variant in <i>TBCD</i> Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report
Maria Caputo, Ilaria Martinelli, Nicola Fini, et al.
Muscle & Nerve
|
September 27, 2014
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene
Lucia Ruggiero, Chiara Fiorillo, Alessandra Tessa, et al.
Page
of 12
Search research articles
Search
Showing results (41-50 of 116) with videos related to
Sort By:
Page
of 12
Human Mutation
|
January 3, 2013
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture
Alessandro Romano, Alessandra Tessa, Amilcare Barca, et al.
Neuromuscular Disorders : NMD
|
October 27, 2009
Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity
Roberto Massa, Alessandra Tessa, Maria Margollicci, et al.
Journal of Child Neurology
|
November 10, 2006
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism
Denise Cassandrini, Salvatore Savasta, Mauro Bozzola, et al.
Neuromuscular Disorders : NMD
|
September 24, 2009
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene
Michela Catteruccia, Tommaso Sanna, Filippo Maria Santorelli, et al.
Muscle & Nerve
|
September 25, 2003
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene
Claudio Bruno, Filippo M Santorelli, Stefania Assereto, et al.
Journal of the Neurological Sciences
|
April 18, 2021
Neuroimaging patterns in paediatric onset hereditary spastic paraplegias
Claudia Dosi, Rosa Pasquariello, Chiara Ticci, et al.
Neuropediatrics
|
July 26, 2024
Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature
Francesca M A Papoff, Guja Astrea, Serena Mero, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 9, 2006
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis
Maria Bonsignore, Alessandra Tessa, Gabriella Di Rosa, et al.
International Journal of Molecular Sciences
|
August 12, 2023
A Variant in <i>TBCD</i> Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report
Maria Caputo, Ilaria Martinelli, Nicola Fini, et al.
Muscle & Nerve
|
September 27, 2014
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene
Lucia Ruggiero, Chiara Fiorillo, Alessandra Tessa, et al.
Page
of 12