Aicardi syndrome
J Aicardi - Brain and development, 2005 - Elsevier
Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and
chorioretinal ‘lacunae’. It occurs only in individuals with two X chromosomes and is not …
chorioretinal ‘lacunae’. It occurs only in individuals with two X chromosomes and is not …
[PDF][PDF] Clinical and molecular phenotype of Aicardi-Goutieres syndrome
…, R Parmar, CF Taylor, A Aeby, J Aicardi… - The American Journal of …, 2007 - cell.com
Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …
Aicardi‐Goutieres syndrome: an update and results of interferon‐α studies
F GoutièRes, J Aicardi, PG Barth… - Annals of Neurology …, 1998 - Wiley Online Library
… J Neurol Neurosurg Psychiatry 1981;44:1168-1170 Aicardi J, Goutikres F. A progressive
familial encephalopathy in infancy with calcifications of the basal ganglia and chronic ce…
familial encephalopathy in infancy with calcifications of the basal ganglia and chronic ce…
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
…, R Parmar, E Griffith, M Ali, C Semple, J Aicardi… - Nature …, 2006 - nature.com
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical
and immunological features of which parallel those of congenital viral infection. Here we …
and immunological features of which parallel those of congenital viral infection. Here we …
The Aicardi syndrome
J Aicardi, JJ Chevrie - Callosal agenesis: A natural split brain?, 1994 - Springer
… The main features of AS, based on a study of 184 cases have been described in detail
recently (Chevrie and Aicardi, 1986) and the frequency of the main features in this review are …
recently (Chevrie and Aicardi, 1986) and the frequency of the main features in this review are …
Alternating hemiplegia of childhood
M Bourgeois, J Aicardi, F Goutières - The Journal of pediatrics, 1993 - Elsevier
We report 22 cases of alternating hemiplegia of childhood. In addition to repeated episodes
of hemiplegia lasting from a few minutes to several days, the disease was characterized by …
of hemiplegia lasting from a few minutes to several days, the disease was characterized by …
[BOOK][B] Epilepsy: a comprehensive textbook
J Engel, TA Pedley, J Aicardi - 2008 - books.google.com
Written and edited by world-renowned authorities, this three-volume work is, to quote a
reviewer," the definitive textbook about seizures and epilepsy". This Second Edition is thoroughly …
reviewer," the definitive textbook about seizures and epilepsy". This Second Edition is thoroughly …
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases
B Hagberg, J Aicardi, K Dias… - Annals of Neurology …, 1983 - Wiley Online Library
… Arsenio-Nunes ML, Goutieres F, Aicardi J: An ultramicroscopic study of skin and conjunctival
biopsies in chronic neurological disorders of childhood. Ann Neurol '3163-173, 1981 2. …
biopsies in chronic neurological disorders of childhood. Ann Neurol '3163-173, 1981 2. …
Convulsive status epilepticus in infants and children: a study of 239 cases
J Aicardi, JJ Chevrie - Epilepsia, 1970 - Wiley Online Library
Two hundred and thirty‐nine cases of status epilepticus in children 0–15 years old have been
studied. Generalized tonic‐clonic and unilateral clonic convulsions constituted the bulk of …
studied. Generalized tonic‐clonic and unilateral clonic convulsions constituted the bulk of …
A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
J Aicardi, F Goutieres - Annals of Neurology: Official Journal of …, 1984 - Wiley Online Library
Eight infants developed a progressive disorder of the central nervous system with bilateral
spasticity and dystonia, acquired microcephaly, and a rapid course toward profound …
spasticity and dystonia, acquired microcephaly, and a rapid course toward profound …