List of works - Myriam Srour

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies

scientific article published on 12 February 2018

Congenital Mirror Movements in a New Italian Family

scientific article published on 28 July 2014

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

scientific article published on 27 November 2014

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

scientific article published on 01 October 2019

De novo mutations in moderate or severe intellectual disability

scientific article

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

scientific article published on 18 April 2017

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

scientific journal article

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

scientific article published on 16 October 2019

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

scientific article published on 7 August 2014

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

scientific article

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

scientific article

Mesocorticolimbic Connectivity and Volumetric Alterations in DCC Mutation Carriers

scientific article published on 30 April 2018

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

scientific article

Mutations in DCC cause congenital mirror movements.

scientific article

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Mutations in TMEM231 cause Joubert syndrome in French Canadians

scientific article published on 25 September 2012

Mutations in the netrin-1 gene cause congenital mirror movements

scientific article

Neural function in DCC mutation carriers with and without mirror movements

article

Neurophysiological investigation of congenital mirror movements in a patient with agenesis of the corpus callosum

scientific article

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

scientific article published on 28 March 2019

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia

scientific article published on 26 September 2013

List of works by Myriam Srour

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies

Congenital Mirror Movements in a New Italian Family

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

De novo mutations in moderate or severe intellectual disability

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Mesocorticolimbic Connectivity and Volumetric Alterations in DCC Mutation Carriers

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

Mutations in DCC cause congenital mirror movements.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Mutations in TMEM231 cause Joubert syndrome in French Canadians

Mutations in the netrin-1 gene cause congenital mirror movements

Neural function in DCC mutation carriers with and without mirror movements

Neurophysiological investigation of congenital mirror movements in a patient with agenesis of the corpus callosum

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia