List of works - Agathe Roubertie

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

scientific article published on 24 January 2018

Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: a paraneoplastic association?

scientific article published on 12 December 2012

Antiglial cell autoantibodies and childhood epilepsy: a case report

scientific article published in August 2005

Ataxia with vitamin E deficiency and severe dystonia: report of a case

scientific article published in September 2003

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders

scientific article published on 21 June 2018

Benign paroxysmal vertigo of childhood: Long-term outcome ⬇️

scientific article published on September 17, 2010

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

scientific article published on 27 September 2017

Cognitive impairment in children with CACNA1A mutations

scientific article published on 21 May 2019

Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion

scientific article

Deciphering the natural history of SCA7 in children

scientific article published on 17 June 2020

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9

scientific article published on 12 March 2020

Founder Effect in Patients with Unverricht‐Lundborg Disease on Reunion Island ⬇️

scientific article published on October 1, 2003

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

scientific article published on 10 April 2017

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

scientific article published on 27 July 2019

Interictal paroxysmal epileptic discharges during sleep in childhood: phenotypic variability in a family

scientific article published in June 2003

Lack of progressive arteriopathy and stroke recurrence among children with cryptogenic stroke

scientific article published on 28 November 2012

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

scientific article published on 21 October 2020

Monoamine metabolism study in severe, early-onset epilepsy in childhood

scientific article published in June 2008

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

scientific article

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

scientific article

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

scientific article

Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.

scientific article published on 24 September 2007

Neurologic aspects of MECP2 gene duplication in male patients

scientific article published in September 2009

Partial epilepsy and 47,XXX karyotype: report of four cases.

scientific article published in July 2006

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

scientific article published on 17 August 2020

Pregnancy in MNGIE: a clinical and metabolic honeymoon

scientific article published on 07 November 2020

Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood

scientific article

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

scientific article published on 01 November 2006

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

scientific article published on 16 January 2015

Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients

scientific article published in December 2008

Type I hyperprolinemia: genotype/phenotype correlations

scientific article published in August 2010

List of works by Agathe Roubertie

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: a paraneoplastic association?

Antiglial cell autoantibodies and childhood epilepsy: a case report

Ataxia with vitamin E deficiency and severe dystonia: report of a case

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders

Benign paroxysmal vertigo of childhood: Long-term outcome ⬇️

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Cognitive impairment in children with CACNA1A mutations

Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion

Deciphering the natural history of SCA7 in children

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9

Founder Effect in Patients with Unverricht‐Lundborg Disease on Reunion Island ⬇️

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Interictal paroxysmal epileptic discharges during sleep in childhood: phenotypic variability in a family

Lack of progressive arteriopathy and stroke recurrence among children with cryptogenic stroke

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

Monoamine metabolism study in severe, early-onset epilepsy in childhood

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.

Neurologic aspects of MECP2 gene duplication in male patients

Partial epilepsy and 47,XXX karyotype: report of four cases.

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Pregnancy in MNGIE: a clinical and metabolic honeymoon

Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients

Type I hyperprolinemia: genotype/phenotype correlations