Search research articles
Contact Us
Filters
Showing results (1-10 of 40) with videos related to
Page
of 4
Sort By:
The Lancet. Neurology
|
September 20, 2024
RAB32 mutation in Parkinson's disease
Edoardo Monfrini, Raffaella Minardi, Franco Valzania, et al.
Diabetes Research and Clinical Practice
|
September 23, 2016
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome
Giulio Maltoni, Raffaella Minardi, Carlotta Pia Cristalli, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 16, 2023
Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort"
Marco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 14, 2022
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts
Marco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Molecular Genetics & Genomic Medicine
|
December 13, 2023
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep
Laura Licchetta, Lucia Di Giorgi, Margherita Santucci, et al.
Molecular Syndromology
|
April 8, 2024
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19
Giulia Parmeggiani, Raffaella Minardi, Antonella Boni, et al.
Neurology. Genetics
|
November 16, 2022
Complete Agenesis of Corpus Callosum in <i>KCNQ2</i>-Related Neonatal Epileptic Encephalopathy
Laura Licchetta, Raffaella Minardi, Lorenzo Muccioli, et al.
Seizure
|
December 14, 2019
Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients
Laura Licchetta, Tommaso Pippucci, Sara Baldassari, et al.
Frontiers in Neurology
|
February 14, 2022
Epilepsy With Auditory Features: From Etiology to Treatment
Alessandro Furia, Laura Licchetta, Lorenzo Muccioli, et al.
Epilepsia
|
July 4, 2026
Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 40) with videos related to
Sort By:
Page
of 4
The Lancet. Neurology
|
September 20, 2024
RAB32 mutation in Parkinson's disease
Edoardo Monfrini, Raffaella Minardi, Franco Valzania, et al.
Diabetes Research and Clinical Practice
|
September 23, 2016
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome
Giulio Maltoni, Raffaella Minardi, Carlotta Pia Cristalli, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 16, 2023
Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort"
Marco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 14, 2022
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts
Marco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Molecular Genetics & Genomic Medicine
|
December 13, 2023
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep
Laura Licchetta, Lucia Di Giorgi, Margherita Santucci, et al.
Molecular Syndromology
|
April 8, 2024
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19
Giulia Parmeggiani, Raffaella Minardi, Antonella Boni, et al.
Neurology. Genetics
|
November 16, 2022
Complete Agenesis of Corpus Callosum in <i>KCNQ2</i>-Related Neonatal Epileptic Encephalopathy
Laura Licchetta, Raffaella Minardi, Lorenzo Muccioli, et al.
Seizure
|
December 14, 2019
Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients
Laura Licchetta, Tommaso Pippucci, Sara Baldassari, et al.
Frontiers in Neurology
|
February 14, 2022
Epilepsy With Auditory Features: From Etiology to Treatment
Alessandro Furia, Laura Licchetta, Lorenzo Muccioli, et al.
Epilepsia
|
July 4, 2026
Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, et al.
Page
of 4