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Maria Angela Farnetani

Observed names: M. A. Farnetani, M. Angela Farnetani, M. Farnetani, M.A. Farnetani, MariaAngela Farnetani
Institution: University of Siena
OpenAlex ID: A5111580351
Epilepsy in Neurofibromatosis 1
2003 · Rossella Vivarelli, Salvatore Grosso, et al. · Journal of Child Neurology · 89
2q24–q31 Deletion: Report of a case and review of the literature
2006 · C. Pescucci, R. Caselli, et al. · European Journal of Medical Genetics · 87
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features
2008 · Filomena Tiziana Papa, Maria Antonietta Mencarelli, et al. · American Journal of Medical Genetics Part A · 68
Vagus nerve stimulation for drug-resistant epilepsy in children and young adults
2003 · Sabrina Buoni, Aldo Mariottini, et al. · Brain and Development · 66
Efficacy and safety of topiramate in infants according to epilepsy syndromes
2005 · S. Grosso, D. Galimberti, et al. · Seizure · 48
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia
2002 · Salvatore Grosso, Maria Angela Farnetani, et al. · American Journal of Medical Genetics Part A · 48
Ethylmalonic encephalopathy
2002 · Salvatore Grosso, Rosa Mostardini, et al. · Journal of Neurology · 41
GM2 gangliosidosis variant B1
2003 · Salvatore Grosso, Maria Angela Farnetani, et al. · Journal of Neurology · 39
Malformations of cortical development in neurofibromatosis type 1
2003 · P. Balestri, R. Vivarelli, et al. · Neurology · 37
Hot water epilepsy and focal malformation of the parietal cortex development
2004 · Salvatore Grosso, Maria Angela Farnetani, et al. · Brain and Development · 35
Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity?
2003 · S. Grosso, L. de Cosmo, et al. · American Journal of Medical Genetics Part A · 35
Familial Axenfeld‐Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome?
2002 · S. Grosso, M.A. Farnetani, et al. · American Journal of Medical Genetics · 32
Chromosome 18 aberrations and epilepsy: A review
2005 · S. Grosso, L. Pucci, et al. · American Journal of Medical Genetics Part A · 29
The Syndrome of Inv Dup (15): Clinical, Electroencephalographic, and Imaging Findings
2000 · Sabrina Buoni, Livio Sorrentino, et al. · Journal of Child Neurology · 28
Celiac disease with cerebral calcium and silica deposits
1996 · P. Toti, P. Balestri, et al. · Neurology · 28
Free sialic acid storage disease
1987 · A. Fois, P. Balestri, et al. · European Journal of Pediatrics · 27
Giant axonal neuropathy. Endocrinological and histological studies
1985 · A. Fois, P. Balestri, et al. · European Journal of Pediatrics · 25
Familial Tyrosinaemia with Eye and Skin Lesions
2010 · A.M. Bardelli, P. Borgogni, et al. · Ophthalmologica · 23
Human erythrocyte hexokinase deficiency: a new variant with abnormal kinetic properties
1985 · M. Magnani, V. Stocchi, et al. · British Journal of Haematology · 21
EEG, PET, SPET and MRI in intractable childhood epilepsies: possible surgical correlations
1995 · A. Fois, M. A. Farnetani, et al. · Child s Nervous System · 15
Biochemical diagnosis of Canavan disease
1992 · G. Bartalini, M. Margollicci, et al. · Child s Nervous System · 14
Operative Results without Invasive Monitoring in Patients with Frontal Lobe Epileptogenic Lesions
2001 · A. Mariottini, C. T. Lombroso, et al. · Epilepsia · 13
Progressive cerebral calcifications, epilepsy, and celiac disease
1993 · Alberto Fois, Paolo Balestri, et al. · Brain and Development · 11
Intractable reflex audiogenic seizures in Aicardi syndrome
2006 · S. Grosso, M.A. Farnetani, et al. · Brain and Development · 10
Multiple Neuroendocrine Disorder in Salla Disease
2001 · Salvatore Grosso, Rosario Berardi, et al. · Journal of Child Neurology · 9
Works count: 32
Citation count: 897
H-index: 19
I10-index: 24
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