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Epilepsia
|
September 30, 2005
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation
Betul Baykan, Pasquale Striano, Stefania Gianotti, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
October 4, 2019
qPCR Applications for the Determination of the Biological Age
Mauro Castagnetta, Ulrich Pfeffer, Aldo Chiesa, et al.
Journal of Child Neurology
|
August 24, 2010
Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy)
Francesco Nicita, Alberto Spalice, Laura Papetti, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
February 21, 2019
A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome
Ettore Piro, Rosaria Nardello, Elena Gennaro, et al.
BMC Neurology
|
April 28, 2020
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant
Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, et al.
Acta Neurologica Belgica
|
December 1, 2010
A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland
Nicola Specchio, Marina Trivisano, Martina Balestri, et al.
European Journal of Human Genetics : EJHG
|
September 26, 2013
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations
Maria Teresa Ricci, Loredana Pennese, Viviana Gismondi, et al.
Epilepsia
|
November 27, 2016
A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients
Giovanni Assenza, Antonella Benvenga, Elena Gennaro, et al.
Seizure
|
October 22, 2011
Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study
Duccio Maria Cordelli, Anna Aldrovandi, Valentina Gentile, et al.
Molecular Genetics and Metabolism Reports
|
December 29, 2025
A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review
Francesca Cappozzo, Mariasavina Severino, Elena Gennaro, et al.
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of 4
Search research articles
Search
Showing results (1-10 of 37) with videos related to
Sort By:
Page
of 4
Epilepsia
|
September 30, 2005
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation
Betul Baykan, Pasquale Striano, Stefania Gianotti, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
October 4, 2019
qPCR Applications for the Determination of the Biological Age
Mauro Castagnetta, Ulrich Pfeffer, Aldo Chiesa, et al.
Journal of Child Neurology
|
August 24, 2010
Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy)
Francesco Nicita, Alberto Spalice, Laura Papetti, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
February 21, 2019
A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome
Ettore Piro, Rosaria Nardello, Elena Gennaro, et al.
BMC Neurology
|
April 28, 2020
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant
Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, et al.
Acta Neurologica Belgica
|
December 1, 2010
A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland
Nicola Specchio, Marina Trivisano, Martina Balestri, et al.
European Journal of Human Genetics : EJHG
|
September 26, 2013
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations
Maria Teresa Ricci, Loredana Pennese, Viviana Gismondi, et al.
Epilepsia
|
November 27, 2016
A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients
Giovanni Assenza, Antonella Benvenga, Elena Gennaro, et al.
Seizure
|
October 22, 2011
Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study
Duccio Maria Cordelli, Anna Aldrovandi, Valentina Gentile, et al.
Molecular Genetics and Metabolism Reports
|
December 29, 2025
A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review
Francesca Cappozzo, Mariasavina Severino, Elena Gennaro, et al.
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of 4