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- Publications
- Influence
Dysfunction of the attentional brain network in children with Developmental Coordination Disorder: A fMRI study
- L. Querné, P. Berquin, Marie-Pierre Vernier-Hauvette, S. Fall, G. D. Marco
- Psychology, Medicine
- Brain Research
- 9 December 2008
Children with Developmental Coordination Disorder (DCD) present impaired motor skills, frequently associated with impaired attentional and executive functions. The objective of this study was to… Expand
Quantitative brain magnetic resonance imaging in girls with attention-deficit/hyperactivity disorder.
- F. Castellanos, J. Giedd, +10 authors J. Rapoport
- Psychology, Medicine
- Archives of general psychiatry
- 1 March 2001
BACKGROUND
Anatomic studies of boys with attention-deficit/hyperactivity disorder (ADHD) have detected decreased volumes in total and frontal brain, basal ganglia, and cerebellar vermis. We tested… Expand
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
- C. Depienne, D. Bouteiller, +22 authors E. Leguern
- Biology, Medicine
- PLoS genetics
- 1 February 2009
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series of… Expand
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
- J. Feldmann, A. Prieur, +6 authors G. de Saint Basile
- Medicine
- American journal of human genetics
- 1 July 2002
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central-nervous-system… Expand
Cerebellum in attention-deficit hyperactivity disorder
- P. Berquin, J. Giedd, +4 authors F. Castellanos
- Psychology, Medicine
- Neurology
- 1 April 1998
Clinical, neuroanatomic, neurobehavioral, and functional brain-imaging studies suggest a role for the cerebellum in cognitive functions, including attention. However, the cerebellum has not been… Expand
Brainstem and hypothalamic areas involved in respiratory chemoreflexes: a Fos study in adult rats
- P. Berquin, L. Bodineau, F. Gros, N. Larnicol
- Biology, Medicine
- Brain Research
- 28 February 2000
The adaptation to hypoxia and hypercapnia requires the activation of several anatomical structures along the neuraxis. In this study, using Fos immunoreactivity, we sought to map neuronal populations… Expand
Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females
- C. Depienne, O. Trouillard, +23 authors E. Leguern
- Biology, Medicine
- Human mutation
- 1 January 2011
Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet‐like syndrome. Heterozygous females are affected while… Expand
Autoimmune disorders and quadrivalent human papillomavirus vaccination of young female subjects
- L. Grimaldi‐Bensouda, D. Guillemot, +19 authors L. Abenhaim
- Medicine
- Journal of internal medicine
- 1 April 2014
The aim of this study was to investigate whether the quadrivalent human papillomavirus (HPV) vaccine Gardasil is associated with a change in the risk of autoimmune disorders (ADs) in young female… Expand
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.
- P. Szepetowski, J. Rochette, P. Berquin, C. Piussan, G. M. Lathrop, A. Monaco
- Biology, Medicine
- American journal of human genetics
- 1 October 1997
Benign infantile familial convulsions is an autosomal dominant disorder characterized by nonfebrile seizures, with the first attack occurring at age 3-12 mo. It is one of the rare forms of epilepsy… Expand
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay
- J. Pilliod, S. Moutton, +40 authors I. Coupry
- Biology, Medicine
- Annals of neurology
- 1 December 2015
Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the description of… Expand