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Epilepsia
|
June 6, 2015
A prospective study of direct medical costs in a large cohort of consecutively enrolled patients with refractory epilepsy in Italy
Chiara Luoni, Maria Paola Canevini, Giuseppe Capovilla, et al.
Clinical Parkinsonism & Related Disorders
|
July 17, 2025
<i>GBA</i> genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region
Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, et al.
Neurology. Genetics
|
December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations
Carla Marini, Michele Romoli, Elena Parrini, et al.
Pediatric Neurology
|
December 15, 2019
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
Sabina Barresi, Maria Lisa Dentici, Francesca Manzoni, et al.
Translational Psychiatry
|
January 18, 2024
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy
Matteo Lenge, Simona Balestrini, Antonio Napolitano, et al.
Epilepsia
|
March 11, 2015
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy
Laura Mumoli, Patrizia Tarantino, Roberto Michelucci, et al.
American Journal of Human Genetics
|
July 11, 2006
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
Paolo Aridon, Carla Marini, Chiara Di Resta, et al.
Advances in Neurology
|
October 29, 2004
Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood
Marco T Medina, Iris E Martínez-Juárez, Reyna M Durón, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 15, 2015
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias
Sabrina Malvagia, Christopher A Haynes, Laura Grisotto, et al.
BBA Clinical
|
April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
Rodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
Page
of 62
Search research articles
Search
Showing results (341-350 of 611) with videos related to
Sort By:
Page
of 62
Epilepsia
|
June 6, 2015
A prospective study of direct medical costs in a large cohort of consecutively enrolled patients with refractory epilepsy in Italy
Chiara Luoni, Maria Paola Canevini, Giuseppe Capovilla, et al.
Clinical Parkinsonism & Related Disorders
|
July 17, 2025
<i>GBA</i> genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region
Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, et al.
Neurology. Genetics
|
December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations
Carla Marini, Michele Romoli, Elena Parrini, et al.
Pediatric Neurology
|
December 15, 2019
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
Sabina Barresi, Maria Lisa Dentici, Francesca Manzoni, et al.
Translational Psychiatry
|
January 18, 2024
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy
Matteo Lenge, Simona Balestrini, Antonio Napolitano, et al.
Epilepsia
|
March 11, 2015
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy
Laura Mumoli, Patrizia Tarantino, Roberto Michelucci, et al.
American Journal of Human Genetics
|
July 11, 2006
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
Paolo Aridon, Carla Marini, Chiara Di Resta, et al.
Advances in Neurology
|
October 29, 2004
Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood
Marco T Medina, Iris E Martínez-Juárez, Reyna M Durón, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 15, 2015
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias
Sabrina Malvagia, Christopher A Haynes, Laura Grisotto, et al.
BBA Clinical
|
April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
Rodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
Page
of 62