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Novel PTEN mutations in neurodevelopmental disorders and macrocephaly

Clinical genetics, 2009-02, Vol.75 (2), p.195-198

2009

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Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Brain & development (Tokyo. 1979), 2010-01, Vol.32 (1), p.17-24

2010

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Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies

Clinical genetics, 2009-06, Vol.75 (6), p.579-581

2009

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Neurological outcome following isolated 10–12 mm fetal ventriculomegaly

Archives of disease in childhood. Fetal and neonatal edition, 2009-07, Vol.94 (4), p.F311-F312

2009

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SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy

Neurology, 2006-02, Vol.66 (4), p.606-607

2006

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Delayed response of seizures with vagus nerve stimulation in Lennox-Gastaut syndrome

Neurology, 2004-10, Vol.63 (8), p.1539-1540

2004

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The FBN1 (R2726W) mutation is not fully penetrant

Annals of human genetics, 2004-11, Vol.68 (6), p.633-638

2004

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Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects

European journal of neurology, 2006-08, Vol.13 (8), p.842-851

2006

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Occipital intermittent rhythmic delta activity only following eye closure in atypical CNS Salmonellosis

Clinical neurophysiology, 2005-08, Vol.116 (8), p.1768-1770

2005

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Atypical BECTS and homocystinuria

Neurology, 2003-10, Vol.61 (8), p.1129-1131

2003

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Operative Results without Invasive Monitoring in Patients with Frontal Lobe Epileptogenic Lesions

Epilepsia (Copenhagen), 2001-10, Vol.42 (10), p.1308-1315

2001

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Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large study of Italian cases

Neurological sciences, 2000-01, Vol.21 (3 Suppl), p.S75-S81

2000

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Growth hormone secretion in Prader-Willi syndrome

Journal of endocrinological investigation, 1998-07, Vol.21 (7), p.418-422

1998

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Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia

American journal of medical genetics, 2004-06, Vol.127A (2), p.212-216

2004

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Myoclonic encephalopathy in the CDKL5 gene mutation

Clinical neurophysiology, 2006, Vol.117 (1), p.223-227

2006

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Segregation Analysis in Typical Absence Epilepsy

Journal of child neurology, 1998-02, Vol.13 (2), p.89-93

1998

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Comment on the ACTH treatment of the West syndrome

Brain & development (Tokyo. 1979), 1996-11, Vol.18 (6), p.469-470

1996

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Vagus nerve stimulation for drug-resistant epilepsy in children and young adults

Brain & development (Tokyo. 1979), 2004-04, Vol.26 (3), p.158-163

2004

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Results from the commissioning of the n_TOF spallation neutron source at CERN

Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment, 2003-11, Vol.513 (3), p.524-537

2003

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