V. Humbertclaude

发表

Clinical phenotypes of infantile onset CACNA1A-related disorder.

E. Bertini, D. Lev, B. Pode-Shakked, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Validation of genetic modi fi ers for Duchenne muscular dystrophy : a multicentre study assessing SPP 1 and LTBP 4 variants

K. Bushby, F. Muntoni, S. Böhringer, 2014 .

Early hemispherectomy in a case of hemimegalencephaly.

O. Robain, V. Humbertclaude, P. Coubes, 1997, Pediatric neurosurgery.

Demographic, clinical, and service-use characteristics related to the clinician’s recommendation to transition from child to adult mental health services

C. Prigent, T. van Amelsvoort, R. Jardri, 2022, Social Psychiatry and Psychiatric Epidemiology.

[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].

C. Béroud, D. Hamroun, M. Claustres, 2010, Pathologie-biologie.

Cognitive impairment in children with CACNA1A mutations

B. Echenne, N. Nagot, E. Tournier-Lasserve, 2019, Developmental medicine and child neurology.

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

N. Nagot, E. Tournier-Lasserve, A. Roubertie, 2018, Developmental medicine and child neurology.

Are Psychiatrists Trained to Address the Mental Health Needs of Young People Transitioning From Child to Adult Services? Insights From a European Survey

D. Wolke, G. de Girolamo, A. Maras, 2022, Frontiers in Psychiatry.

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

F. Rivier, M. Claustres, S. Tuffery-Giraud, 2012, European Journal of Human Genetics.

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

B. Echenne, C. Korff, N. Leboucq, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Ito hypomelanosis and moyamoya disease.

B. Echenne, N. Leboucq, V. Humbertclaude, 1995, Pediatric neurology.

Transition as a topic in psychiatry training throughout Europe: trainees’ perspectives

J. Madan, D. Wolke, F. Verhulst, 2019, European Child & Adolescent Psychiatry.

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].

J. Pépin, F. Rivier, C. Béroud, 2013, Revue neurologique (Paris).

Psychosocial risk factors for suicidality in children and adolescents

J. Buitelaar, J. Castro-Fornieles, K. Aitchison, 2019, European Child & Adolescent Psychiatry.

Interictal Paroxysmal Epileptic Discharges during Sleep in Childhood: Phenotypic Variability in a Family

F. Rivier, B. Echenne, A. Roubertie, 2003, Epilepsia.

Training of adult psychiatrists and child and adolescent psychiatrists in europe: a systematic review of training characteristics and transition from child/adolescent to adult mental health services

A. Maras, M. Paul, H. Tuomainen, 2019, BMC medical education.

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

Christophe Béroud, Jamel Chelly, Mireille Claustres, 2009, Human mutation.

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.

A. Monaco, M. Lathrop, A. Lemainque, 2001, American journal of human genetics.

Is Hyperprolinemia Type I Actually a Benign Trait? Report of a Case With Severe Neurologic Involvement and Vigabatrin Intolerance

F. Rivier, B. Echenne, A. Roubertie, 2001, Journal of child neurology.

Development and psychometric properties of the “Suicidality: Treatment Occurring in Paediatrics (STOP) Risk and Resilience Factors Scales” in adolescents

J. Glennon, J. Buitelaar, J. Castro-Fornieles, 2019, European Child & Adolescent Psychiatry.

Macroglossia in adult Duchenne muscular dystrophy.

P. Labauge, V. Humbertclaude, D. Renard, 2010, Acta Neurologica Belgica.

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Francesco Muntoni, Alessandra Ferlini, Stefan Böhringer, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.

J. Pépin, F. Rivier, C. Béroud, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Olivier Danos, Mireille Claustres, 2007, Human mutation.

P. Meyer, C. Coubes, A. Roubertie, 2020, Annals of clinical and translational neurology.

Recurrent episodes of coma: an unusual phenotype of familial hemiplegic migraine with linkage to chromosome 1.

F. Rivier, B. Echenne, A. Joutel, 1999, Neuropediatrics.

Total endovascular occlusion of a giant direct arteriovenous fistula in the posterior fossa in a case of Rendu-Osler-Weber disease

B. Echenne, P. Frérebeau, G. Rodesch, 1996, Child's Nervous System.

Benign infantile epilepsy with autosomal dominant inheritance

A. Malafosse, F. Rivier, B. Echenne, 1994, Brain and Development.

[Benign infantile convulsions. French collaborative study].

P. Berquin, O. Dulac, J. Motte, 1999, Archives de pédiatrie.

[Parry-Romberg's syndrome and epilepsy].