Lista de obras - Enrico Parano - Dominio Público Uruguay

A Very Aggressive Form of Facial Hemangioma

artículo científico publicado en 1988

A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases.

artículo científico publicado en 1994

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

artículo científico publicado en 1997

A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

scientific article published on December 2010

Anti-brain antibodies in PANDAS versus uncomplicated streptococcal infection

artículo científico publicado en 2004

Anton-Babinski syndrome in a child with early-stage adrenoleukodystrophy.

artículo científico publicado en 2007

Arthrogryposis Multiplex Congenita and Pituitary Ectopia. A Case Report

artículo científico publicado en 2000

Bickerstaff's brainstem encephalitis (BBE) in childhood: rapid resolution after intravenous immunoglobulins treatment

artículo científico publicado en 2014

Blepharoptosis in children: our experience at the light of literature.

artículo científico publicado en 2010

Callosal anomalies with interhemispheric cyst: expanding the phenotype

artículo científico publicado en 2005

Chronic inflammatory demyelinating polyneuropathy in childhood: clinical and electrophysiological features

artículo científico publicado en 1991

Clinical Heterogeneity in Familial Congenital Ptosis: Analysis of Fourteen Cases in One Family Over Five Generations

artículo científico publicado en 2005

Clinical heterogeneity in eyelid myoclonia, with absences, and epilepsy

artículo científico publicado en 2002

Congenital muscular dystrophy with syringomyelia

artículo científico publicado en 1994

Congenital muscular dystrophy: Correlation of muscle biopsy and clinical features

artículo científico publicado en 1994

Delayed bilateral median nerve injury due to low-tension electric current.

artículo científico publicado en 1996

Diabetes insipidus in neurobrucellosis

artículo científico publicado en 2000

Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood

scientific article published on 01 October 1993

Epilepsy is not a prominent feature of primary autism.

artículo científico publicado en 2004

Fetal Nucleated Red Blood Cell Counts in Peripheral Blood of Mothers Bearing Down Syndrome Fetus

artículo científico publicado en 2001

Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter study.

artículo científico publicado en 2004

Hydranencephaly: cerebral spinal fluid instead of cerebral mantles

artículo científico publicado en 2014

HyperCKemia as a biomarker for muscular diseases.

artículo científico publicado en 2010

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

artículo científico publicado en 1997

Intrafamilial phenotypic heterogeneity of the Poland complex: a case report

article

Life-threatening neurological syndrome in Down's syndrome.

artículo científico publicado en 1998

Limb reduction defects in humans associated with prenatal isotretinoin exposure ⬇️

artículo científico publicado el 1 de diciembre de 1991

Metabolic dysfunction in Russell-Silver syndrome

artículo científico publicado en 1994

Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy

artículo científico publicado en 1996

Myotonic dystrophy in a large Sicilian kinship: a case report

scientific article published on 01 August 1995

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

artículo científico publicado en 2007

Neurological complications in hospitalized patients with pertussis: a 15-year Sicilian experience

scientific article published on 01 June 1996

Neuropsychological assessment in children with absence epilepsy.

artículo científico publicado en 2001

New trends in cesarean section.

artículo científico publicado en 1987

Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cells from maternal blood

article

Pediatric autoimmune neuropsychiatric disorder associated with group a streptococcal infection: the role of surgical treatment

artículo científico publicado en 2014

Peripheral lymphocyte subsets and other immune aspects in Rett syndrome.

artículo científico publicado en 1999

Perrault syndrome: Evidence for progressive nervous system involvement

article

Plasma ?-endorphin levels and natural killer cells in two cases of congenital indifference to pain

artículo científico publicado en 1992

Post-influenza viral myositis: report of a case

artículo científico publicado en 1999

Recurrent peripheral neuropathy in a girl with celiac disease.

artículo científico publicado en 2000

Reflex sympathetic dystrophy associated with deep peroneal nerve entrapment ⬇️

artículo científico publicado el 1 de marzo de 1998

Reversible palsy of the hypoglossal nerve complicating infectious mononucleosis in a young child

scientific article published on 01 February 1998

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

Syndactyly type 1 with cataracts and mental retardation.

artículo científico publicado en 1993

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

artículo científico publicado en 1998

Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome

artículo científico publicado en 2000

Vein of Galen malformation and infantile spasms

scientific article published on 01 March 1999

[Early-onset hyperthyroidism with muscle involvement: a report on a patient]

artículo científico publicado en 1996

[Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood]

article

[Neurologic emergencies in children]

scientific article published on 01 November 1988

Lista de obras de Enrico Parano

A Very Aggressive Form of Facial Hemangioma

A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases.

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS

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

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

Anti-brain antibodies in PANDAS versus uncomplicated streptococcal infection

Anton-Babinski syndrome in a child with early-stage adrenoleukodystrophy.

Arthrogryposis Multiplex Congenita and Pituitary Ectopia. A Case Report

Bickerstaff's brainstem encephalitis (BBE) in childhood: rapid resolution after intravenous immunoglobulins treatment

Blepharoptosis in children: our experience at the light of literature.

Callosal anomalies with interhemispheric cyst: expanding the phenotype

Chronic inflammatory demyelinating polyneuropathy in childhood: clinical and electrophysiological features

Clinical Heterogeneity in Familial Congenital Ptosis: Analysis of Fourteen Cases in One Family Over Five Generations

Clinical heterogeneity in eyelid myoclonia, with absences, and epilepsy

Congenital muscular dystrophy with syringomyelia

Congenital muscular dystrophy: Correlation of muscle biopsy and clinical features

Delayed bilateral median nerve injury due to low-tension electric current.

Diabetes insipidus in neurobrucellosis

Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood

Epilepsy is not a prominent feature of primary autism.

Fetal Nucleated Red Blood Cell Counts in Peripheral Blood of Mothers Bearing Down Syndrome Fetus

Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter study.

Hydranencephaly: cerebral spinal fluid instead of cerebral mantles

HyperCKemia as a biomarker for muscular diseases.

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

Intrafamilial phenotypic heterogeneity of the Poland complex: a case report

Life-threatening neurological syndrome in Down's syndrome.

Limb reduction defects in humans associated with prenatal isotretinoin exposure ⬇️

Metabolic dysfunction in Russell-Silver syndrome

Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy

Myotonic dystrophy in a large Sicilian kinship: a case report

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

Neurological complications in hospitalized patients with pertussis: a 15-year Sicilian experience

Neuropsychological assessment in children with absence epilepsy.

New trends in cesarean section.

Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cells from maternal blood

Pediatric autoimmune neuropsychiatric disorder associated with group a streptococcal infection: the role of surgical treatment

Peripheral lymphocyte subsets and other immune aspects in Rett syndrome.

Perrault syndrome: Evidence for progressive nervous system involvement

Plasma ?-endorphin levels and natural killer cells in two cases of congenital indifference to pain

Post-influenza viral myositis: report of a case

Recurrent peripheral neuropathy in a girl with celiac disease.

Reflex sympathetic dystrophy associated with deep peroneal nerve entrapment ⬇️

Reversible palsy of the hypoglossal nerve complicating infectious mononucleosis in a young child

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

Syndactyly type 1 with cataracts and mental retardation.

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome

Vein of Galen malformation and infantile spasms

[Early-onset hyperthyroidism with muscle involvement: a report on a patient]

[Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood]

[Neurologic emergencies in children]