Catherine Sarret

Vincent Laugel 6 collaborations

Isabelle Desguerre 6 collaborations

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Brigitte Chabrol 5 collaborations

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Susana Quijano-Roy 5 collaborations

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Ganaelle Remerand 3 collaborations

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None None 3 collaborations

Alexandra Afenjar 3 collaborations

Christine Coubes 3 collaborations

Laurence Faivre 3 collaborations

Bertrand Isidor 3 collaborations

Massimiliano Rossi 3 collaborations

Annick Toutain 3 collaborations

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Affiliations

Publications (32)

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review.

Assessment of the advantage of the serum S100B protein biomonitoring in the management of paediatric mild traumatic brain injury-PROS100B: protocol of a multicentre unblinded stepped wedge cluster randomised trial.

Deleterious mutations in

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

Lumbar puncture in infants with urinary tract infection: Assessment of infant management in the emergency department.

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA).

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.

Serum S100B Level in the Management of Pediatric Minor Head Trauma: A Randomized Clinical Trial.

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Cold Vibration (Buzzy) Versus Anesthetic Patch (EMLA) for Pain Prevention During Cannulation in Children: A Randomized Trial.

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.

Neural correlates of consciousness and related disorders: From phenotypic descriptors of behavioral and relative consciousness to cortico-subcortical circuitry.

Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation).

Normal intellectual skills in patients with Rhombencephalosynapsis.

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.

Leukodystrophies and genetic leukoencephalopathies in children.

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.

Recurrent

Robot-assisted gait training improves walking and cerebral connectivity in children with unilateral cerebral palsy.

Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.

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