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Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Brain & development (Tokyo. 1979), 2015-05, Vol.37 (5), p.527-536

2015

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Childhood Absence Epilepsy: Evolution and Prognostic Factors

Epilepsia (Copenhagen), 2005-11, Vol.46 (11), p.1796-1801

2005

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Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

American journal of human genetics, 2004-02, Vol.74 (2), p.239-252

2004

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Oxidative stress in children affected by epileptic encephalopathies

Journal of the neurological sciences, 2011-01, Vol.300 (1), p.103-106

2011

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Optic perineuritis: A further cause of visual loss and disc edema in children

Brain & development (Tokyo. 1979), 2014-11, Vol.36 (10), p.932-935

2014

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Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress

Brain & development (Tokyo. 1979), 2008-06, Vol.30 (6), p.391-395

2008

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Recurrent Miller Fisher Syndrome in Children

Pediatric neurology, 2014-03, Vol.50 (3), p.269-271

2014

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A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features

American journal of medical genetics. Part A, 2008-08, Vol.146A (15), p.1994-1998

2008

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A comparative study of hydrocortisone versus deflazacort in drug-resistant epilepsy of childhood

Epilepsy research, 2008-09, Vol.81 (1), p.80-85

2008

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Hot water epilepsy and focal malformation of the parietal cortex development

Brain & development (Tokyo. 1979), 2004-10, Vol.26 (7), p.490-493

2004

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Linear scleroderma associated with progressive brain atrophy

Brain & development (Tokyo. 1979), 2003, Vol.25 (1), p.57-61

2003

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Efficacy and safety of lacosamide in infants and young children with refractory focal epilepsy

European journal of paediatric neurology, 2014-01, Vol.18 (1), p.55-59

2014

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VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Human mutation, 2014-08, Vol.35 (8), p.983-989

2014

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Plasmapheresis in a child affected by acute disseminated encephalomyelitis

Brain & development (Tokyo. 1979), 2000-03, Vol.22 (2), p.123-126

2000

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Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature

Brain & development (Tokyo. 1979), 2005, Vol.27 (1), p.73-77

2005

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Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia

American journal of medical genetics, 2003-07, Vol.120A (1), p.88-91

2003

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Epilepsy and vaccinations: Italian guidelines

Epilepsia (Copenhagen), 2013-10, Vol.54 (s7), p.13-22

2013

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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Human molecular genetics, 2005-07, Vol.14 (14), p.1935-1946

2005

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Lacosamide in children with refractory status epilepticus. A multicenter Italian experience

European journal of paediatric neurology, 2014-09, Vol.18 (5), p.604-608

2014

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Schinzel–Giedion syndrome: a further cause of West syndrome

Brain & development (Tokyo. 1979), 2003-06, Vol.25 (4), p.294-298

2003

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Lacosamide efficacy in epileptic syndromes with continuous spike and waves during slow sleep (CSWS)

Epilepsy research, 2014-11, Vol.108 (9), p.1604-1608

2014

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Body mass index and serum lipid changes during treatment with valproic acid in children with epilepsy

The Annals of pharmacotherapy, 2009-01, Vol.43 (1), p.45

2009

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Management of status dystonicus in children. Cases report and review

European journal of paediatric neurology, 2012-07, Vol.16 (4), p.390-395

2012

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Quantification of psychosine in the serum of twitcher mouse by LC–ESI-tandem-MS analysis

Journal of pharmaceutical and biomedical analysis, 2013-06, Vol.80, p.44-49

2013

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Pseudo-TORCH syndrome or Baraitser-Reardon syndrome : diagnostic criteria

Brain & development (Tokyo. 1979), 2001-03, Vol.23 (1), p.18-23

2001

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Einstellungen

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Childhood Absence Epilepsy: Evolution and Prognostic Factors

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Oxidative stress in children affected by epileptic encephalopathies

Optic perineuritis: A further cause of visual loss and disc edema in children

Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress

Recurrent Miller Fisher Syndrome in Children

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features

A comparative study of hydrocortisone versus deflazacort in drug-resistant epilepsy of childhood

Hot water epilepsy and focal malformation of the parietal cortex development

Linear scleroderma associated with progressive brain atrophy

Efficacy and safety of lacosamide in infants and young children with refractory focal epilepsy

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Plasmapheresis in a child affected by acute disseminated encephalomyelitis

Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia

Epilepsy and vaccinations: Italian guidelines

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Lacosamide in children with refractory status epilepticus. A multicenter Italian experience

Schinzel–Giedion syndrome: a further cause of West syndrome

Lacosamide efficacy in epileptic syndromes with continuous spike and waves during slow sleep (CSWS)

Body mass index and serum lipid changes during treatment with valproic acid in children with epilepsy

Management of status dystonicus in children. Cases report and review

Quantification of psychosine in the serum of twitcher mouse by LC–ESI-tandem-MS analysis

Pseudo-TORCH syndrome or Baraitser-Reardon syndrome : diagnostic criteria

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