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Carmelo Amato

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Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia|September 17, 2015
Long faun tail: a rare cutaneous marker of spinal dysraphismCarmelo Schepis, Maurizio Elia, Carmelo Amato
AJNR. American Journal of Neuroradiology|March 12, 2005
Nervous system involvement in Degos diseaseCarmelo Amato, Raffaele Ferri, Maurizio Elia, et al.
Brain & Development|April 4, 2012
An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsyMaurizio Elia, Carmelo Amato, Maria Bottitta, et al.
Neuropediatrics|October 28, 2020
Letter to the Editor Regarding the Article "Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy"Luigi Vetri, Francesco Calì, Mirella Vinci, et al.
European Journal of Medical Genetics|January 24, 2020
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathyLuigi Vetri, Francesco Calì, Mirella Vinci, et al.
Human Genetics|January 19, 2019
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophyMarco Fichera, Pinella Failla, Lucia Saccuzzo, et al.
Mitochondrion|May 4, 2010
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortexCarmela Scuderi, Eugenia Borgione, Filippa Castello, et al.
Epilepsia|May 12, 2006
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five casesMaurizio Elia, Pasquale Striano, Marco Fichera, et al.
Neuromuscular Disorders : NMD|February 10, 2015
The in cis T251I and P587L POLG1 base changes: description of a new family and literature reviewCarmela Scuderi, Eugenia Borgione, Filippa Castello, et al.
Frontiers in Neurology|May 2, 2022
Quantitative MRI Harmonization to Maximize Clinical Impact: The RIN-Neuroimaging NetworkAnna Nigri, Stefania Ferraro, Claudia A M Gandini Wheeler-Kingshott, et al.
Pageof 1

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

Sort By:
Pageof 1
Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia|September 17, 2015
Long faun tail: a rare cutaneous marker of spinal dysraphismCarmelo Schepis, Maurizio Elia, Carmelo Amato
AJNR. American Journal of Neuroradiology|March 12, 2005
Nervous system involvement in Degos diseaseCarmelo Amato, Raffaele Ferri, Maurizio Elia, et al.
Brain & Development|April 4, 2012
An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsyMaurizio Elia, Carmelo Amato, Maria Bottitta, et al.
Neuropediatrics|October 28, 2020
Letter to the Editor Regarding the Article "Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy"Luigi Vetri, Francesco Calì, Mirella Vinci, et al.
European Journal of Medical Genetics|January 24, 2020
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathyLuigi Vetri, Francesco Calì, Mirella Vinci, et al.
Human Genetics|January 19, 2019
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophyMarco Fichera, Pinella Failla, Lucia Saccuzzo, et al.
Mitochondrion|May 4, 2010
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortexCarmela Scuderi, Eugenia Borgione, Filippa Castello, et al.
Epilepsia|May 12, 2006
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five casesMaurizio Elia, Pasquale Striano, Marco Fichera, et al.
Neuromuscular Disorders : NMD|February 10, 2015
The in cis T251I and P587L POLG1 base changes: description of a new family and literature reviewCarmela Scuderi, Eugenia Borgione, Filippa Castello, et al.
Frontiers in Neurology|May 2, 2022
Quantitative MRI Harmonization to Maximize Clinical Impact: The RIN-Neuroimaging NetworkAnna Nigri, Stefania Ferraro, Claudia A M Gandini Wheeler-Kingshott, et al.
Pageof 1