Lista de obras - Martino Ruggieri - Dominio Público Uruguay

'Infantile convulsions' in the early nineteenth century. Abnormal brain blood flow and leeches, teething and gums' scarification and food and purgatives: the historical contribution of John Clarke (1760-1815).

artículo científico publicado en 2018

A boy born with multiple lesions of atrophoderma

artículo científico publicado en 2010

A child with congenital heart disease and situs viscerum inversus

scientific article published on 01 December 2008

A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies

artículo científico publicado en 2005

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

artículo científico publicado en 2015

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

artículo científico publicado en 2010

A pilot study on neurological manifestations and antibodies against antigens in children with hematological and other cancers

scientific article published on 11 August 2012

A search for evidence of somatic mutations in the NF1 gene.

artículo científico publicado en 2000

A syndrome with coarse face, mental retardation and unusual stereotyped movements*.

artículo científico publicado en 2009

Acquired peripheral neuropathy: a report on 20 children

artículo científico publicado en 2012

Acute deep vein thrombosis (DVT) of the lower limbs in a 32-year-old man with chronic hypoplasia of the inferior vena cava (HIVC) without risk factors

artículo científico publicado en 2015

Acute disseminated encephalomyelitis: a long-term prospective study and meta-analysis.

scientific article published on December 2010

Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy

artículo científico publicado en 2009

Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications

artículo científico publicado en 2014

An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins

artículo científico publicado en 2012

Aneurysmal bone cyst of the acromion: a case report

artículo científico publicado en 1995

Anti-myelin antibodies modulate clinical expression of childhood multiple sclerosis

artículo científico publicado en 2010

Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas

scientific article published on 01 January 1996

Autoimmune thyroiditis and acquired demyelinating polyradiculoneuropathy

artículo científico publicado en 2001

Benign paroxysmal positional vertigo and post-treatment quality of life

scientific article published on 22 January 2005

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

artículo científico publicado en 2011

Bilateral periventricular nodular heterotopia with amniotic band syndrome

artículo científico publicado en 2007

Brain ultrasound features in multiple births due to spontaneous conception compared with assisted reproductive techniques: a cross-sectional, population-based study

artículo científico publicado en 2014

CNS findings in three cases of septo-optic dysplasia, including one with semilobar holoprosencephaly

artículo científico publicado en 2005

Callosal anomalies with interhemispheric cyst: expanding the phenotype

artículo científico publicado en 2005

Cataracts in three children with a newly recognised neurocutaneous malformation phenotype with "cutis tricolor"

artículo científico publicado en 2009

Cathepsin D is a marker of ganglion cell differentiation in the developing and neoplastic human peripheral sympathetic nervous tissues

scientific article published on 01 October 2000

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

artículo científico publicado en 2004

Choroidal abnormalities and mental retardation in neurofibromatosis type 1.

artículo científico publicado en 2001

Chronic atrial fibrillation and asymptomatic cerebral infarction in elderly patients

artículo científico publicado en 2002

Citalopram in the treatment of depression in the elderly

artículo científico publicado en 2002

Clinical and pharmacological aspects of inflammatory demyelinating diseases in childhood: an update.

artículo científico publicado en 2010

Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study

artículo científico publicado en 2007

Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria.

artículo científico publicado en 2008

Complex malformation (Ruggieri-Happle) phenotype with "cutis tricolor" in a 10-year-old girl

artículo científico publicado en 2012

Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1)

artículo científico publicado en 1999

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

artículo científico publicado en 2015

Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment.

artículo científico publicado en 2008

Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism

artículo científico publicado en 1997

Cutaneous and leptomeningeal hemangiomas with impressive benign evolution

artículo científico publicado en 2013

Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype.

artículo científico publicado en 2000

Delineation of a newly recognized neurocutaneous malformation syndrome with "cutis tricolor".

artículo científico publicado en 2003

Dysembryoplastic neuroepithelial tumors: a prospective clinicopathologic and outcome study of 13 children

artículo científico publicado en 2010

Dystonia as acute adverse reaction to cough suppressant in a 3-year-old girl

artículo científico publicado en 2001

Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients

artículo científico publicado en 2005

Early fatal course in three brothers with FG syndrome

artículo científico publicado en 1996

Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.

artículo científico publicado en 2018

Effectiveness of forced rehydration and early re-feeding in the treatment of acute diarrhoea in a tropical area.

artículo científico publicado en 2000

Ehlers-Danlos syndrome and neurological features: a review.

artículo científico publicado en 2010

Epilepsy is not a prominent feature of primary autism.

artículo científico publicado en 2004

Evaluation of the basal ganglia in neurofibromatosis type 1.

artículo científico publicado en 2013

Familial broad terminal phalanges with one individual showing additional anomalies

artículo científico publicado en 1997

Familial hypomelanosis of ito: implications for genetic counselling

articulo cientifico

Familial infantile hypertrophic pyloric stenosis

scientific article published on 01 June 2008

Familial osteoma of the cranial vault

scientific article published on 01 February 1998

Fatal biphasic brainstem and spinal leptomeningitis with Cryptococcus neoformans in a non-immunocompromised child.

artículo científico publicado en 1999

First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840-1909)

Floretlike multinucleated giant cells in a neurofibroma from a patient with NF1: an unusual finding for such a tumor

artículo científico publicado en 2002

From Aldrovandi's "Homuncio" (1592) to Buffon's girl (1749) and the "Wart Man" of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?

artículo científico publicado en 2003

Gelastic seizures due to hypothalamic hamartoma: rapid resolution after endoscopic tumor disconnection

artículo científico publicado en 2012

Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area

artículo científico publicado en 2011

Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

article

Gluten Psychosis: Confirmation of a New Clinical Entity.

artículo científico publicado en 2015

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

artículo científico publicado en 1998

Hemihydranencephaly: living with half brain dysfunction

artículo científico publicado en 2013

Hydranencephaly: cerebral spinal fluid instead of cerebral mantles

artículo científico publicado en 2014

Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome.

artículo científico publicado en 2005

Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation

artículo científico publicado en 1996

Hypomelanosis of Ito: a round on the frequency and type of epileptic complications

artículo científico publicado en 2015

Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient

artículo científico publicado en 1999

Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis.

artículo científico

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

artículo científico publicado en 2018

Infantile spasms in the setting of Sturge-Weber syndrome

artículo científico publicado en 2008

Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013.

artículo científico publicado en 2013

Introduction to phacomatoses (neurocutaneous disorders) in childhood

scientific article published on 17 September 2020

Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens).

artículo científico publicado en 1996

Is there a risk of pubertal worsening in primary intestinal lymphangiectasia?

artículo científico publicado en 2013

Italian studies on early-onset multiple sclerosis: the present and the future.

artículo científico publicado en 2004

Klippel-Trenaunay syndromein a boy with concomitant ipsilateral overgrowth and undergrowth

Lateral dermoid cyst of the tongue: case report

scientific article published on 01 July 1994

Life-threatening neurological syndrome in Down's syndrome.

artículo científico publicado en 1998

Lipoid proteinosis: a case report

scientific article published on 01 January 1997

Long-Term Follow-Up in Infantile-Onset Lambert-Eaton Myasthenic Syndrome

scientific article published on 10 October 2013

Low prevalence of neurologic and psychiatric manifestations in children with gluten sensitivity

artículo científico publicado en 2007

Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria.

artículo científico publicado en 2011

Medullary thyroid carcinoma and tuberous sclerosis

artículo científico publicado en 2009

Melorheostosis: case report with 20-year follow-up.

artículo científico publicado en 2008

Microcephaly associated with Legg-Calvè-Perthes disease in two siblings.

artículo científico publicado en 2012

Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

artículo científico publicado en 2009

Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis

artículo científico publicado en 2014

Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5)

artículo científico publicado en 2001

Multiple coronary artery aneurysms in a child with neurofibromatosis type 1

artículo científico publicado en 2000

Multiple sclerosis in children under 10 years of age.

artículo científico publicado en 2004

Multiple sclerosis in children under 6 years of age.

artículo científico publicado en 1999

Multiple sclerosis with onset at 35 months of age.

artículo científico publicado en 1996

Neonatal onset of bath-induced alternating hemiplegia of childhood

scientific article published on 29 August 2009

Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia

artículo científico publicado en 2007

Neurocutaneous melanocytosis (melanosis)

scientific article published on 13 October 2020

Neurofibromatosis type 1 and infantile spasms

artículo científico publicado en 2008

Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases.

artículo científico publicado en 2010

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients

article by Martino Ruggieri et al published 18 September 2012 in American Journal of Medical Genetics

New insights on the relationship between pseudotumor cerebri and secondary hyperaldosteronism in children

artículo científico publicado en 2012

Ohtahara syndrome with emphasis on recent genetic discovery.

artículo científico publicado en 2011

Ossifying fibroma of the skull in a patient with neurofibromatosis type 1. Case report

scientific article published on 01 November 1996

Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement

scientific article published on 01 June 2014

Pediatric idiopathic intracranial hypertension and extreme childhood obesity: a role for weight gain.

artículo científico publicado en 2013

Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study.

artículo científico publicado en 2014

Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions

artículo científico publicado en 2009

Polyneuritis cranialis: full recovery after intravenous immunoglobulins

artículo científico publicado en 2007

Primary headache: role of investigations in a cohort of young children and adolescents.

artículo científico publicado en 2011

Primary osteoma cutis — multiple café-au-lait spots and woolly hair anomaly

artículo científico publicado en 1995

Pseudohypoparathyroidism Ia with Evans syndrome

artículo científico publicado en 2008

Pseudotumor cerebri pathophysiology: the likely role of aldosterone

artículo científico publicado en 2014

Pulmonary valve stenosis in a patient with ataxia telangiectasia

scientific article published on 01 June 1996

Rotavirus and celiac disease

artículo científico publicado en 2007

SHORT syndrome: a new case with probable autosomal dominant inheritance.

artículo científico publicado en 1996

Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: Familial scimitar anomaly or new syndrome?

artículo científico publicado en 2003

Segmental neurofibromatosis

artículo científico publicado en 2000

Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up.

artículo científico publicado en 2012

Septo-optic dysplasia complex: a heterogeneous malformation syndrome.

artículo científico publicado en 2006

Sildenafil in the treatment of erectile dysfunction in elderly depressed patients with idiopathic Parkinson's disease.

artículo científico publicado en 2002

Solitary neurofibroma of the mesentery: report of a case and review of the literature.

artículo científico publicado en 2000

Spectrum of skeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome)

artículo científico publicado en 2011

Spinal cord insults in the prenatal, perinatal, and neonatal periods.

artículo científico publicado en 1999

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation

scientific article published on 15 August 2013

Spinal neurofibromatosis in children.

artículo científico publicado en 2012

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

artículo científico publicado en 2013

Spondyloperipheral dysplasia

artículo científico publicado en 1995

Stroke in children: inherited and acquired factors and age-related variations in the presentation of 48 paediatric patients.

artículo científico publicado en 2009

Temporal triangular alopecia in association with mental retardation and epilepsy in a mother and daughter

artículo científico publicado en 2000

Thalamic syndrome in children with measles infection and selective, reversible thalamic involvement

artículo científico publicado en 1998

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

artículo científico publicado en 2001

The different forms of neurofibromatosis

artículo científico publicado en 1999

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

artículo científico publicado en 2014

The neurofibromatoses. An overview

artículo científico publicado en 1999

The neurology of coeliac disease in childhood: what is the evidence? A systematic review and meta-analysis.

artículo científico publicado en 2010

The use of selegiline in the treatment of cognitive deficits in elderly patients

artículo científico publicado en 2002

Therapy of panic attacks in the elderly

artículo científico publicado en 2002

Tuberculosis of the ankle in childhood: clinical, roentgenographic and computed tomography findings

scientific article published on 01 September 1997

Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke.

artículo científico publicado en 2008

Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area

artículo científico publicado en 2014

Unilateral Lisch nodules in a 47-year-old woman without other stigmata of neurofibromatosis type I: an example of segmental neurofibromatosis?

artículo científico publicado en 2012

Unusual form of recurrent giant cell granuloma of the mandible and lower extremities in a patient with neurofibromatosis type 1.

artículo científico publicado en 1999

Upper respiratory tract infection and torticollis in children: differential diagnosis of Grisel's syndrome

artículo científico publicado en 2012

Use of amantadine in the treatment of the neurobehavioral sequelae after brain injury in elderly patients

artículo científico publicado en 2002

Usefulness of diffusion tensor imaging and fiber tractography in neurological and neurosurgical pediatric diseases.

artículo científico publicado en 2010

Voluntary selective big toe dorsal flection: pseudo-Babinski phenomenon?

artículo científico publicado en 2008

West syndrome treatment: new roads for an old syndrome

artículo científico publicado en 2013

West syndrome: a comprehensive review

scientific article published on 22 August 2020

Why do benign astrocytomas become malignant in NF1?

artículo científico publicado en 2001

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13

artículo científico publicado en 2014

Zellweger syndrome and secondary mitochondrial myopathy

artículo científico

[Early relapse of herpes simplex encephalitis. Clinical and therapeutic implications]

scientific article published on 01 November 1999

Lista de obras de Martino Ruggieri

'Infantile convulsions' in the early nineteenth century. Abnormal brain blood flow and leeches, teething and gums' scarification and food and purgatives: the historical contribution of John Clarke (1760-1815).

A boy born with multiple lesions of atrophoderma

A child with congenital heart disease and situs viscerum inversus

A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

A pilot study on neurological manifestations and antibodies against antigens in children with hematological and other cancers

A search for evidence of somatic mutations in the NF1 gene.

A syndrome with coarse face, mental retardation and unusual stereotyped movements*.

Acquired peripheral neuropathy: a report on 20 children

Acute deep vein thrombosis (DVT) of the lower limbs in a 32-year-old man with chronic hypoplasia of the inferior vena cava (HIVC) without risk factors

Acute disseminated encephalomyelitis: a long-term prospective study and meta-analysis.

Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy

Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications

An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins

Aneurysmal bone cyst of the acromion: a case report

Anti-myelin antibodies modulate clinical expression of childhood multiple sclerosis

Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas

Autoimmune thyroiditis and acquired demyelinating polyradiculoneuropathy

Benign paroxysmal positional vertigo and post-treatment quality of life

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

Bilateral periventricular nodular heterotopia with amniotic band syndrome

Brain ultrasound features in multiple births due to spontaneous conception compared with assisted reproductive techniques: a cross-sectional, population-based study

CNS findings in three cases of septo-optic dysplasia, including one with semilobar holoprosencephaly

Callosal anomalies with interhemispheric cyst: expanding the phenotype

Cataracts in three children with a newly recognised neurocutaneous malformation phenotype with "cutis tricolor"

Cathepsin D is a marker of ganglion cell differentiation in the developing and neoplastic human peripheral sympathetic nervous tissues

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Choroidal abnormalities and mental retardation in neurofibromatosis type 1.

Chronic atrial fibrillation and asymptomatic cerebral infarction in elderly patients

Citalopram in the treatment of depression in the elderly

Clinical and pharmacological aspects of inflammatory demyelinating diseases in childhood: an update.

Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study

Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria.

Complex malformation (Ruggieri-Happle) phenotype with "cutis tricolor" in a 10-year-old girl

Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1)

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment.

Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism

Cutaneous and leptomeningeal hemangiomas with impressive benign evolution

Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype.

Delineation of a newly recognized neurocutaneous malformation syndrome with "cutis tricolor".

Dysembryoplastic neuroepithelial tumors: a prospective clinicopathologic and outcome study of 13 children

Dystonia as acute adverse reaction to cough suppressant in a 3-year-old girl

Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients

Early fatal course in three brothers with FG syndrome

Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.

Effectiveness of forced rehydration and early re-feeding in the treatment of acute diarrhoea in a tropical area.

Ehlers-Danlos syndrome and neurological features: a review.

Epilepsy is not a prominent feature of primary autism.

Evaluation of the basal ganglia in neurofibromatosis type 1.

Familial broad terminal phalanges with one individual showing additional anomalies

Familial hypomelanosis of ito: implications for genetic counselling

Familial infantile hypertrophic pyloric stenosis

Familial osteoma of the cranial vault

Fatal biphasic brainstem and spinal leptomeningitis with Cryptococcus neoformans in a non-immunocompromised child.

First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840-1909)

Floretlike multinucleated giant cells in a neurofibroma from a patient with NF1: an unusual finding for such a tumor

From Aldrovandi's "Homuncio" (1592) to Buffon's girl (1749) and the "Wart Man" of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?

Gelastic seizures due to hypothalamic hamartoma: rapid resolution after endoscopic tumor disconnection

Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area

Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

Gluten Psychosis: Confirmation of a New Clinical Entity.

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

Hemihydranencephaly: living with half brain dysfunction

Hydranencephaly: cerebral spinal fluid instead of cerebral mantles

Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome.

Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation

Hypomelanosis of Ito: a round on the frequency and type of epileptic complications

Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient

Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis.

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Infantile spasms in the setting of Sturge-Weber syndrome

Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013.

Introduction to phacomatoses (neurocutaneous disorders) in childhood

Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens).

Is there a risk of pubertal worsening in primary intestinal lymphangiectasia?

Italian studies on early-onset multiple sclerosis: the present and the future.

Klippel-Trenaunay syndromein a boy with concomitant ipsilateral overgrowth and undergrowth