Publications
Filters: First Letter Of Last Name is M [Clear All Filters]
Angelman syndrome: correlations between epilepsy phenotypes and genotypes.,
, Annals of neurology, 1998 Apr, Volume 43, Issue 4, p.485-93, (1998)
Abstract
Continuous focal spikes during REM sleep in a case of acquired aphasia (Landau-Kleffner syndrome).,
, Sleep, 1992 Oct, Volume 15, Issue 5, p.454-60, (1992)
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
Cortical myoclonus in Angelman syndrome.,
, Annals of neurology, 1996 Jul, Volume 40, Issue 1, p.39-48, (1996)
Abstract
Delayed appearance of interictal EEG abnormalities in early onset childhood epilepsy with occipital paroxysms.,
, Brain & development, 1997 Jul, Volume 19, Issue 5, p.343-6, (1997)
Abstract
Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.,
, PloS one, 2015, Volume 10, Issue 7, p.e0130883, (2015)
Abstract
Early and effective treatment of KCNQ2 encephalopathy.,
, Epilepsia, 2015 May, Volume 56, Issue 5, p.685-91, (2015)
Abstract
Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis.,
, PloS one, 2015, Volume 10, Issue 7, p.e0131635, (2015)
Abstract
Early-onset benign occipital seizure susceptibility syndrome.,
, Epilepsia, 1997 Mar, Volume 38, Issue 3, p.285-93, (1997)
Abstract
Epilepsy, antiepileptic drugs, and malformations in children of women with epilepsy: a French prospective cohort study.,
, Neurology, 1992 Apr, Volume 42, Issue 4 Suppl 5, p.75-82, (1992)
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
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.,
, Human molecular genetics, 1998 Aug, Volume 7, Issue 8, p.1327-32, (1998)
Abstract
Identification and characterization of three calmodulin binding sites of the skeletal muscle ryanodine receptor.,
, Biochemistry, 1994 Aug 9, Volume 33, Issue 31, p.9078-84, (1994)
Abstract
Induction of partial seizures by visual stimulation. Clinical and electroencephalographic features and evoked potential studies.,
, Advances in neurology, 1998, Volume 75, p.159-78, (1998)
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation.,
, Epilepsy & behavior : E&B, 2015 Jul 16, (2015)
Abstract
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.,
, Human molecular genetics, 1997 Apr, Volume 6, Issue 4, p.555-62, (1997)
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)
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.,
, Human molecular genetics, 2015 Jun 29, (2015)
Abstract
Myoclonic absence-like seizures and chromosome abnormality syndromes.,
, Epilepsia, 1998 Jun, Volume 39, Issue 6, p.660-3, (1998)
Abstract
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