Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Fawzia Cheliout-Heraut"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Congenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygous PHOX-2B gene mutations which are
Externí odkaz:
https://doaj.org/article/2f1253473d0048dba154b22d6d404e76
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
BackgroundCongenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygousPHOX-2Bgene mutations which are polyalanine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43bf67b9862a3080fb7f3b399bee63f0
http://link.springer.com/article/10.1186/s13023-020-01601-7
http://link.springer.com/article/10.1186/s13023-020-01601-7
Autor:
Pierre Mauran, Mathilde Viprey, Fawzia Cheliout-Heraut, Pascal Sabouraud, Ha Trang, Michael Pomedio, Katia Bessaci-Kabouya
Publikováno v:
JCSM/Journal of Clinical Sleep Medicine
JCSM/Journal of Clinical Sleep Medicine, 2017, 13 (09), pp.1105-1108. ⟨10.5664/jcsm.6734⟩
JCSM/Journal of Clinical Sleep Medicine, 2017, 13 (09), pp.1105-1108. ⟨10.5664/jcsm.6734⟩
International audience; Selenoprotein-related myopathy (SEPN1-RM) is a rare disease with a variable clinical presentation. The selenoprotein N1 gene (SEPN1) mutation causing this congenital muscular dystrophy was identified in 2001. Sleep-disordered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98013008db40e0891c1eebab1ab0a98c
https://doi.org/10.5664/jcsm.6734
https://doi.org/10.5664/jcsm.6734
Autor:
Florence Bour, Fawzia Cheliout-Heraut, Charles Daniel Arreto, Laurent Pierrisnard, Mathieu Marty, Olivier Lacaze, Gérald Simonneau
Publikováno v:
Journal of Prosthodontics. 26:381-386
Purpose Obstructive sleep apnea (OSA) has been described as a common sleep respiratory disorder. Its prevalence in the adult population has been reported to be high, varying from 3% to 28%. Dental practitioners play a key role in the treatment of thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d50e8f9dd821f777e8a5213ee6746d1b
https://doi.org/10.1111/jopr.12401
https://doi.org/10.1111/jopr.12401
Autor:
Fawzia Cheliout-Heraut, JM Pinard, Nouha Essid, Susana Quijano-Roy, Eric Azabou, Samir Haddad
Publikováno v:
European Journal of Paediatric Neurology. 16:619-624
Objective Most types of neuromuscular diseases are known to be associated with a high risk of sleep-disordered breathing. We performed a prospective study in a well individualized group of muscular disorders, congenital muscular dystrophies (CMD), to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ba9680396a16dfe39d3bcad59f1761b
https://doi.org/10.1016/j.ejpn.2012.02.009
https://doi.org/10.1016/j.ejpn.2012.02.009
Autor:
Nouha Essid, Eric Azabou, Valentina M. Racaru, Ileana Benga, JM Pinard, Marc Brami, Fawzia Cheliout-Heraut
Publikováno v:
Neurological Sciences. 34:57-62
The comorbidity between epilepsy and sleep disorders is well documented. However, the mechanisms underlining this comorbidity are not fully understood. The putative role of anti epileptic drugs in sleep architecture disturbances in epileptic children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41cac5c0776f47a4630ad79d39aff0af
https://doi.org/10.1007/s10072-012-0971-7
https://doi.org/10.1007/s10072-012-0971-7
Publikováno v:
European Journal of Paediatric Neurology. 14:282-287
Background Succinic semialdehyde dehydrogenase deficiency (SSADH) is a rare neurometabolic disorder involving the degradation of γ-aminobutyric acid. Clinically, SSADH deficiency causes progressive or static encephalopathy with late infantile to ear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5287f1a9d2e60c10d88881e4176b7def
https://doi.org/10.1016/j.ejpn.2009.09.003
https://doi.org/10.1016/j.ejpn.2009.09.003
Publikováno v:
Douleurs : Evaluation - Diagnostic - Traitement. 7:195-198
Resume Objectif La methode du QST (Quantitative Sensory Testing) est une methode d’exploration non invasive permettant la mise en evidence d’une atteinte precoce des fibres de petit calibre (A δ ) et des fibres amyeliniques (C). Nous avons utili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72ee2b42943755b2035786ae6b3bae0e
https://doi.org/10.1016/s1624-5687(06)71141-6
https://doi.org/10.1016/s1624-5687(06)71141-6
Autor:
Susana Quijano-Roy, Michel Fardeau, Brigitte Estournet, Françoise Gray, Pascale Guicheney, A. Barois, Ana Ferreiro, Fawzia Cheliout-Heraut, Lucı́a Galan, Norma B. Romero
Publikováno v:
Neuromuscular Disorders. 12:466-475
A novel form of congenital muscular dystrophy in four unrelated patients is proposed. Congenital hypotonia, markedly increased CK, calf pseudohypertrophy and proximal weakness were common early findings. Two cases were severely affected since infancy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1e0a46009825730e952ee1776958591
https://doi.org/10.1016/s0960-8966(01)00331-5
https://doi.org/10.1016/s0960-8966(01)00331-5
Autor:
Ha Trang, Fawzia Cheliout-Heraut, Pascal Sabouraud, Mathilde Viprey, Michael Pomedio, Pierre Mauran, Katia Bessaci-Kabouya
Publikováno v:
Médecine du sommeil
Médecine du sommeil, Elsevier Masson, 2017, 14 (1), pp.37. ⟨10.1016/j.msom.2017.01.057⟩
Médecine du sommeil, Elsevier Masson, 2017, 14 (1), pp.37. ⟨10.1016/j.msom.2017.01.057⟩
Objectif La selenopathie est une myopathie rare dont la presentation clinique est atypique, marquee notamment par l’apparition precoce des troubles respiratoires du sommeil, a la difference de la dystrophie musculaire de Duchenne et l’amyotrophie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5c0d99a5917e669f09615dc12678c69
https://doi.org/10.1016/j.msom.2017.01.057
https://doi.org/10.1016/j.msom.2017.01.057