Publications
Filters: Author is Guerrini, Renzo [Clear All Filters]
Periventricular nodular heterotopia in Smith-Magenis syndrome.,
, American journal of medical genetics. Part A, 2014 Dec, Volume 164A, Issue 12, p.3142-7, (2014)
Abstract
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.,
, Human molecular genetics, 2015 Jun 29, (2015)
Abstract
Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.,
, Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015 Jul 14, (2015)
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation.,
, Epilepsy & behavior : E&B, 2015 Jul 16, (2015)
Abstract
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.,
, Journal of medical genetics, 2015 Jun, Volume 52, Issue 6, p.405-12, (2015)
Abstract
Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis.,
, PloS one, 2015, Volume 10, Issue 7, p.e0131635, (2015)
Abstract
Early and effective treatment of KCNQ2 encephalopathy.,
, Epilepsia, 2015 May, Volume 56, Issue 5, p.685-91, (2015)
Abstract
Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.,
, PloS one, 2015, Volume 10, Issue 7, p.e0130883, (2015)
Abstract
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.,
, American journal of medical genetics. Part A, 2010 Dec 10, (2010)
Abstract