List of works - 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).

scientific article published on 20 March 2018

A boy born with multiple lesions of atrophoderma

scientific article

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

scientific article

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.

scientific article published in May 2015

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

scientific article

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.

scientific article

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

scientific article published in August 2009

Acquired peripheral neuropathy: a report on 20 children

scientific article published in April 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

scientific article published on 09 July 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

scientific article published on 20 March 2009

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

scientific article

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

scientific article published on 28 February 2012

Aneurysmal bone cyst of the acromion: a case report

scientific article published on 01 November 1995

Anti-myelin antibodies modulate clinical expression of childhood multiple sclerosis

scientific article published on 08 April 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

scientific article published on 01 October 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

scientific article published on 22 February 2011

Bilateral periventricular nodular heterotopia with amniotic band syndrome

scientific article

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

scientific article

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

scientific article published on 01 August 2005

Callosal anomalies with interhemispheric cyst: expanding the phenotype

scientific article

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

scientific article published on 01 January 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.

scientific article published in February 2004

Choroidal abnormalities and mental retardation in neurofibromatosis type 1.

scientific article published in January 2001

Chronic atrial fibrillation and asymptomatic cerebral infarction in elderly patients

scientific article published on 01 January 2002

Citalopram in the treatment of depression in the elderly

scientific article published in January 2002

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

scientific article

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

scientific article published on September 2007

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

scientific article published on 6 January 2008

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

scientific article published on 26 February 2012

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

scientific article published on 01 May 1999

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

scientific article (publication date: 2015)

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

scientific article published in July 2008

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

scientific article published in October 1997

Cutaneous and leptomeningeal hemangiomas with impressive benign evolution

scientific article published in January 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.

scientific article published in October 2000

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

scientific article published in July 2003

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

scientific article published on 01 December 2010

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

scientific article

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

scientific article published in February 2005

Early fatal course in three brothers with FG syndrome

scientific article published on 01 July 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.

scientific article published in February 2018

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

scientific article published on July 2000

Ehlers-Danlos syndrome and neurological features: a review.

scientific article published on 10 August 2010

Epilepsy is not a prominent feature of primary autism.

scientific article published in August 2004

Evaluation of the basal ganglia in neurofibromatosis type 1.

scientific article published on 27 July 2013

Familial broad terminal phalanges with one individual showing additional anomalies.

scientific article published in August 1997

Familial hypomelanosis of ito: implications for genetic counselling

scientific article published on 01 November 2000

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.

scientific article

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

scientific article published on 01 November 2002

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

scientific article published in March 2003

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

scientific article

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

scientific article published on 20 October 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.

scientific article published on 8 July 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

scientific article published in May 1998

Hemihydranencephaly: living with half brain dysfunction

scientific article published on 16 January 2013

Hydranencephaly: cerebral spinal fluid instead of cerebral mantles

scientific article published on 18 October 2014

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

scientific article

Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation

scientific article published on 01 July 1996

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

scientific article

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

scientific article published in January 1999

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

scientific article published on January 2012

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

scientific article published on 16 March 2018

Infantile spasms in the setting of Sturge-Weber syndrome

scientific article published on 02 October 2008

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

scientific article

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).

scientific article published in February 1996

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

scientific article

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

scientific article

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.

scientific article published on May 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.

scientific article published on 19 November 2007

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

scientific article

Medullary thyroid carcinoma and tuberous sclerosis

scientific article published on 01 January 2009

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

scientific article published in May 2008

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

scientific article published on 6 January 2012

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

scientific article

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

scientific article published on 30 April 2014

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

scientific article published on 01 June 2001

Multiple coronary artery aneurysms in a child with neurofibromatosis type 1

scientific article published on 01 July 2000

Multiple sclerosis in children under 10 years of age.

scientific article

Multiple sclerosis in children under 6 years of age.

scientific article published in August 1999

Multiple sclerosis with onset at 35 months of age.

scientific article published in April 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

scientific article published on 21 December 2007

Neurocutaneous melanocytosis (melanosis)

scientific article published on 13 October 2020

Neurofibromatosis type 1 and infantile spasms

scientific article published on 19 September 2008

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

scientific article published on 26 August 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

scientific article published on 01 March 2012

Ohtahara syndrome with emphasis on recent genetic discovery.

scientific article

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.

scientific article

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

scientific article published in January 2014

Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions

scientific article published in May 2009

Polyneuritis cranialis: full recovery after intravenous immunoglobulins

scientific article published on 01 September 2007

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

scientific article published in December 2011

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

scientific article published on 01 January 1995

Pseudohypoparathyroidism Ia with Evans syndrome

scientific article

Pseudotumor cerebri pathophysiology: the likely role of aldosterone

scientific article published on 01 July 2014

Pulmonary valve stenosis in a patient with ataxia telangiectasia

scientific article published on 01 June 1996

Rotavirus and celiac disease

scientific article published in August 2007

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

scientific article published in January 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?

scientific article published on 01 January 2003

Segmental neurofibromatosis

scientific article published on 01 September 2000

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

scientific article published on 21 February 2012

Septo-optic dysplasia complex: a heterogeneous malformation syndrome.

scientific article

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

scientific article published in January 2002

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

scientific article

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

scientific article published on 01 January 2011

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

scientific article published in May 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.

scientific article published on 8 November 2012

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

scientific article

Spondyloperipheral dysplasia.

scientific article published in November 1995

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

scientific article published on 30 April 2009

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

scientific article published on 01 March 2000

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

scientific article published on 01 January 1998

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

scientific article published in June 2001

The different forms of neurofibromatosis

scientific article published on 01 July 1999

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

scientific article

The neurofibromatoses. An overview

scientific article (publication date: April 1999)

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

scientific article

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

scientific article published in January 2002

Therapy of panic attacks in the elderly

scientific article published on 01 January 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.

scientific article published on 29 October 2008

Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area

scientific article

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

scientific article published on 3 December 2012

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

scientific article published in January 1999

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

scientific article published on 05 April 2012

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

scientific article published on 01 January 2002

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

scientific article

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

scientific article

West syndrome treatment: new roads for an old syndrome

scientific article published on 12 August 2013

West syndrome: a comprehensive review

scientific article published on 22 August 2020

Why do benign astrocytomas become malignant in NF1?

scientific article published in April 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

scientific article published on 07 May 2014

Zellweger syndrome and secondary mitochondrial myopathy

scientific article published on 07 October 2014

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

scientific article published on 01 November 1999

List of works by 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