Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
Objective.—We review the clinical phenotype, pathological changes, and results of
cytogenetic and molecular genetic studies in 90 probands with lissencephaly (smooth brain) …
cytogenetic and molecular genetic studies in 90 probands with lissencephaly (smooth brain) …
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
…, B Incerti, B Bardoni, R Tonlorenzi, R Carrozzo… - Nature, 1991 - nature.com
Kallmann's syndrome (clinically characterized by hypogonadotropic hypogonadism and
inability to smell) is caused by a defect in the migration of olfactory neurons, and neurons …
inability to smell) is caused by a defect in the migration of olfactory neurons, and neurons …
Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
O Reiner, R Carrozzo, Y Shen, M Wehnert… - Nature, 1993 - nature.com
LISSENCEPHALY (agyria-pachygyria) is a human brain malformation manifested by a
smooth cerebral surface and abnormal neuronal migration1, 2. Identification of the gene (s) …
smooth cerebral surface and abnormal neuronal migration1, 2. Identification of the gene (s) …
[PDF][PDF] Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
V Tiranti, K Hoertnagel, R Carrozzo… - The American Journal of …, 1998 - cell.com
Leigh disease associated with cytochrome c oxidase deficiency (LD [COX−]) is one of the
most common disorders of the mitochondrial respiratory chain, in infancy and childhood. No …
most common disorders of the mitochondrial respiratory chain, in infancy and childhood. No …
Epilepsy and genetic malformations of the cerebral cortex
R Guerrini, R Carrozzo - American journal of medical genetics, 2001 - Wiley Online Library
Malformations of the cerebral cortex are an important cause of developmental disabilities
and epilepsy. Here we review those malformations for which a genetic basis has been …
and epilepsy. Here we review those malformations for which a genetic basis has been …
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms
R Guerrini, R Carrozzo, R Rinaldi, P Bonanni - Pediatric Drugs, 2003 - Springer
It is estimated that Angelman syndrome (AS) accounts for up to 6% of all children presenting
with severe mental retardation and epilepsy. The main clinical features of AS may not be …
with severe mental retardation and epilepsy. The main clinical features of AS may not be …
Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome
…, ACM Smith, WB Dobyns, R Carrozzo… - Human molecular …, 1997 - academic.oup.com
Classical lissencephaly (smooth brain) or generalized agyriapachygyria is a severe brain
malformation which results from an arrest of neuronal migration at 9–13 weeks gestation. It …
malformation which results from an arrest of neuronal migration at 9–13 weeks gestation. It …
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
R Carrozzo, C Dionisi-Vici, U Steuerwald, S Lucioli… - Brain, 2007 - academic.oup.com
One pedigree with four patients has been recently described with mitochondrial DNA
depletion and mutation in SUCLA 2 gene leading to succinyl-CoA synthase deficiency …
depletion and mutation in SUCLA 2 gene leading to succinyl-CoA synthase deficiency …
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
A Ballabio, B Bardoni, R Carrozzo… - Proceedings of the …, 1989 - National Acad Sciences
Mendelian inherited disorders due to deletions of adjacent genes on a chromosome have
been described as" contiguous gene syndromes." Short stature, chondrodysplasia punctata …
been described as" contiguous gene syndromes." Short stature, chondrodysplasia punctata …
[HTML][HTML] Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation
I Wittig, R Carrozzo, FM Santorelli… - Biochimica et Biophysica …, 2006 - Elsevier
Dimerization or oligomerization of ATP synthase has been proposed to play an important
role for mitochondrial cristae formation and to be involved in regulating ATP synthase …
role for mitochondrial cristae formation and to be involved in regulating ATP synthase …