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List of works by Gabrielle Rudolf

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

scientific article published in June 2001

A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3

scientific article

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

scientific article published on 24 December 2013

Acquired epileptic opercular syndrome related to a heterozygous deleterious substitution in GRIN2A.

scientific article published on 23 August 2017

Acute blockade of dopamine receptors with haloperidol: A retinal model to study impairments of dopaminergic transmission

scientific article published in January 1993

Anti-MOG antibodies are present in a subgroup of patients with a neuromyelitis optica phenotype

scientific article

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

scientific article published on 01 October 2018

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

scientific article published on 28 May 2020

Blood Cell Palmitoleate-Palmitate Ratio Is an Independent Prognostic Factor for Amyotrophic Lateral Sclerosis

scientific article

Cerebral correlates of hemispheric lateralization during a pitch discrimination task: an ERP study in dichotic situation

scientific article

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny

scientific article published on 01 March 2020

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

scientific article published on 6 May 2017

Delayed-onset Friedreich's ataxia revisited

scientific article published on 21 September 2015

Dopamine and melatonin interactions in the intact chicken eye. Electrooculographic and biochemical study

scientific article published on July 3, 1992

EOG and ERG modifications induced in the chicken eye after blockade of catecholamine and 5-hydroxytryptamine biosynthesis

scientific article published in November 1990

Early-onset parkinsonism is a manifestation of the PPP2R5D p.E200K mutation

scientific article published on 03 August 2020

Effects of intravitreal and intravenous administrations of dopamine on the standing potential and the light peak in the intact chicken eye.

scientific article published on November 1990

Electrooculographic study in the chicken after treatment with neurotoxin 6-hydroxydopamine

scientific article published in May 1989

Electrophysiological evidence of persisting unilateral auditory cortex dysfunction in the late outcome of Landau and Kleffner syndrome

scientific article published in February 2001

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism

scientific article published on 27 June 2012

Epileptic encephalopathy with continuous spike-waves during sleep: the need for transition from childhood to adulthood medical care appears to be related to etiology

scientific article published on August 2014

Evaluation of clinical interest of anti-aquaporin-4 autoantibody followup in neuromyelitis optica

scientific article published on 28 April 2013

Evaluation of new immunological targets in neuromyelitis optica

scientific article published on 28 November 2012

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes

scientific article published on 29 May 2020

Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)

scientific article published on 13 February 2020

Exploration of a Putative Susceptibility Locus for Idiopathic Generalized Epilepsy on Chromosome 8p12

scientific article published on 01 January 2003

Exploration of the genetic architecture of idiopathic generalized epilepsies

scientific article published in October 2006

From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors

scientific article published in August 2009

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

scientific article published on 11 August 2013

GRIN2A-related disorders: genotype and functional consequence predict phenotype

scientific article published on 01 January 2019

Galanin pathogenic mutations in temporal lobe epilepsy

scientific article

Genetic Compensation in a Human Genomic Disorder

scientific article published on 19 March 2009

Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy

scientific article

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13

article

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

scientific article published on May 2016

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

scientific article published on July 2016

Idiopathic focal epilepsies: the "lost tribe".

scientific article

Increased diagnostic yield in complex dystonia through exome sequencing

scientific article published on 20 April 2020

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

scientific article

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Is dopamine involved in the generation of the light peak in the intact chicken eye? ⬇️

scientific article published on January 1, 1991

Is neuromyelitis optica associated with human leukocyte antigen?

scientific article published on 19 March 2009

Isolated paroxysmal arousals as focal epilepsy

scientific article published in March 2006

Landau-Kleffner syndrome is not an eponymic badge of ignorance.

scientific article published on 27 June 2006

Language-induced epilepsy, acquired stuttering, and idiopathic generalized epilepsy: phenotypic study of one family

scientific article published in April 2006

Light and dark induced variations of the c-wave voltage of the chicken eye after treatment with sodium aspartate

scientific article published in January 1991

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

scientific article published on 29 June 2016

Loss-of-function mutations in NR4A2 cause dopa-responsive dystonia Parkinsonism

scientific article published on 10 January 2020

Migraines et épilepsies temporales mésiales familiales : quel est le lien ?

scientific article published in October 2009

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

scientific article

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

scientific article published on 03 October 2016

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

scientific article published on 15 December 2011

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

scientific article published on 31 March 2013

Mutations of the orexin system, a regulator of sleep arousal, are not a common cause of ADNFLE.

scientific article

No evidence for genetic association between glutamate transporter EAAT2 and Devic's neuromyelitis optica in caucasians and afro-caribbeans.

scientific article

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

scientific article published on 5 August 2010

On cholinergic mechanisms in the optokinetic nystagmus of the frog: antagonistic effects of muscarinic and nicotinic systems

scientific article

Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

scientific article

Pentylenetetrazol-induced status epilepticus up-regulates the expression of glucose transporter mRNAs but not proteins in the immature rat brain

scientific article published on 6 March 2006

Physiological effects of muscarinic vs nicotinic ACh antagonists upon ganglion cell activity in the frog retina

scientific article published in January 1987

Polygenic Control of Idiopathic Generalized Epilepsy Phenotypes in the Genetic Absence Rats from Strasbourg (GAERS)

scientific article published in April 2004

Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall

scientific article published on 22 July 2008

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

scientific article published on 25 June 2020

Reply to "PPP2R5D genetic mutations and early-onset parkinsonism"

scientific article published on 24 October 2020

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism

scientific article published on 24 December 2013

SRPX2 mutations in disorders of language cortex and cognition

scientific article

Serum analysis by 1H Nuclear Magnetic Resonance spectroscopy: a new tool for distinguishing neuromyelitis optica from multiple sclerosis

scientific article published on 30 September 2013

Severe early-onset impulsive compulsive behavior and psychosis in PLA2G6-related juvenile Parkinson's disease.

scientific article

Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS

scientific article published on 13 November 2019

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

scientific article published on 13 May 2019

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero

scientific article published on 5 July 2013

Unexpected combination of inherited chorea-acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease

scientific article published on 01 September 2010

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations

scientific article published on 01 June 2019

Vigabatrin, the GABA-transaminase inhibitor, damages cone photoreceptors in rats

scientific article

Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis

scientific article

XPR1 mutations are a rare cause of primary familial brain calcification.

scientific article

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