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Wyszukujesz frazę ""Jeannet PY"" wg kryterium: Autor


Tytuł :
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
Autorzy :
Lebrun N; Inserm, Institut Cochin, Paris, France.; Cnrs, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Lebon S; Department of Pediatrics, Pediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Switzerland.
Jeannet PY; Department of Pediatrics, Pediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Switzerland.
Jacquemont S; Département de Pédiatrie, Faculté de médecine, Université de Montréal, CHU Sainte Justine, Montreal, Canada.
Billuart P; Inserm, Institut Cochin, Paris, France.; Cnrs, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Bienvenu T; Inserm, Institut Cochin, Paris, France.; Cnrs, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; Assistance Publique - Hôpitaux de Paris, Groupe Universitaire Paris Centre, Site Cochin, Laboratoire de Biochimie et Génétique Moléculaire, Paris, France.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Dec; Vol. 167A (12), pp. 3076-81. Date of Electronic Publication: 2015 Sep 11.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain Diseases/*genetics
Cell Cycle Proteins/*genetics
Chromosomal Proteins, Non-Histone/*genetics
De Lange Syndrome/*genetics
Epilepsy/*genetics
Mutation/*genetics
RNA Splice Sites/*genetics
Age of Onset ; Brain Diseases/diagnosis ; De Lange Syndrome/diagnosis ; Epilepsy/diagnosis ; Female ; Humans ; Infant, Newborn ; Phenotype ; Prognosis ; RNA, Messenger/genetics ; Real-Time Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Autorzy :
Bladen CL; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway, Newcastle upon Tyne, UK.
Salgado D
Monges S
Foncuberta ME
Kekou K
Kosma K
Dawkins H
Lamont L
Roy AJ
Chamova T
Guergueltcheva V
Chan S
Korngut L
Campbell C
Dai Y
Wang J
Barišić N
Brabec P
Lahdetie J
Walter MC
Schreiber-Katz O
Karcagi V
Garami M
Viswanathan V
Bayat F
Buccella F
Kimura E
Koeks Z
van den Bergen JC
Rodrigues M
Roxburgh R
Lusakowska A
Kostera-Pruszczyk A
Zimowski J
Santos R
Neagu E
Artemieva S
Rasic VM
Vojinovic D
Posada M
Bloetzer C
Jeannet PY
Joncourt F
Díaz-Manera J
Gallardo E
Karaduman AA
Topaloğlu H
El Sherif R
Stringer A
Shatillo AV
Martin AS
Peay HL
Bellgard MI
Kirschner J
Flanigan KM
Straub V
Bushby K
Verschuuren J
Aartsma-Rus A
Béroud C
Lochmüller H
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Źródło :
Human mutation [Hum Mutat] 2015 Apr; Vol. 36 (4), pp. 395-402. Date of Electronic Publication: 2015 Mar 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Databases, Genetic*
Mutation*
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Humans ; Registries
Czasopismo naukowe
Tytuł :
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
Autorzy :
Bladen CL; MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, .
Thompson R
Jackson JM
Garland C
Wegel C
Ambrosini A
Pisano P
Walter MC
Schreiber O
Lusakowska A
Jedrzejowska M
Kostera-Pruszczyk A
van der Pol L
Wadman RI
Gredal O
Karaduman A
Topaloglu H
Yilmaz O
Matyushenko V
Rasic VM
Kosac A
Karcagi V
Garami M
Herczegfalvi A
Monges S
Moresco A
Chertkoff L
Chamova T
Guergueltcheva V
Butoianu N
Craiu D
Korngut L
Campbell C
Haberlova J
Strenkova J
Alejandro M
Jimenez A
Ortiz GG
Enriquez GV
Rodrigues M
Roxburgh R
Dawkins H
Youngs L
Lahdetie J
Angelkova N
Saugier-Veber P
Cuisset JM
Bloetzer C
Jeannet PY
Klein A
Nascimento A
Tizzano E
Salgado D
Mercuri E
Sejersen T
Kirschner J
Rafferty K
Straub V
Bushby K
Verschuuren J
Beroud C
Lochmüller H
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Źródło :
Journal of neurology [J Neurol] 2014 Jan; Vol. 261 (1), pp. 152-63. Date of Electronic Publication: 2013 Oct 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
International Cooperation*
Muscular Atrophy, Spinal/*epidemiology
Registries/*statistics & numerical data
Adolescent ; Adult ; Age Factors ; Aged ; Australasia/epidemiology ; Child ; Child, Preschool ; Europe/epidemiology ; Female ; Health Surveys ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Muscular Atrophy, Spinal/physiopathology ; North America/epidemiology ; Young Adult
Czasopismo naukowe
Tytuł :
Non-traumatic spinal cord ischaemia in childhood - clinical manifestation, neuroimaging and outcome.
Autorzy :
Stettler S; Department of Neuropaediatrics, University Children's Hospital Bern, Inselspital, Freiburgstrasse, 3010 Bern, Switzerland.
El-Koussy M
Ritter B
Boltshauser E
Jeannet PY
Kolditz P
Meyer-Heim A
Steinlin M
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2013 Mar; Vol. 17 (2), pp. 176-84. Date of Electronic Publication: 2012 Oct 04.
Typ publikacji :
Journal Article
MeSH Terms :
Spinal Cord Ischemia/*complications
Spinal Cord Ischemia/*pathology
Adolescent ; Child ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Neuroimaging ; Recovery of Function ; Retrospective Studies ; Spinal Cord Ischemia/etiology
Czasopismo naukowe
Tytuł :
Effect of vagus nerve stimulation in an adult patient with Dravet syndrome: contribution to sudden unexpected death in epilepsy risk reduction?.
Autorzy :
Spatola M; Service de Neurologie, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland.
Jeannet PY
Pollo C
Wider C
Labrum R
Rossetti AO
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Źródło :
European neurology [Eur Neurol] 2013; Vol. 69 (2), pp. 119-21. Date of Electronic Publication: 2012 Nov 29.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Vagus Nerve Stimulation*
Death, Sudden/*etiology
Epilepsies, Myoclonic/*complications
Epilepsies, Myoclonic/*therapy
Humans ; Male ; Risk Reduction Behavior ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł :
Sleep disorders in boys with Duchenne muscular dystrophy.
Autorzy :
Bloetzer C; Paediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland.
Jeannet PY
Lynch B
Newman CJ
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Źródło :
Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2012 Dec; Vol. 101 (12), pp. 1265-9. Date of Electronic Publication: 2012 Oct 08.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Dystrophy, Duchenne/*complications
Sleep Wake Disorders/*etiology
Adolescent ; Child ; Child, Preschool ; Cross-Sectional Studies ; Humans ; Ireland/epidemiology ; Male ; Multivariate Analysis ; Muscular Dystrophy, Duchenne/epidemiology ; Parents ; Prevalence ; Sleep Wake Disorders/epidemiology ; Switzerland/epidemiology
Czasopismo naukowe
Tytuł :
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Autorzy :
Klein A; Paediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
Lillis S
Munteanu I
Scoto M
Zhou H
Quinlivan R
Straub V
Manzur AY
Roper H
Jeannet PY
Rakowicz W
Jones DH
Jensen UB
Wraige E
Trump N
Schara U
Lochmuller H
Sarkozy A
Kingston H
Norwood F
Damian M
Kirschner J
Longman C
Roberts M
Auer-Grumbach M
Hughes I
Bushby K
Sewry C
Robb S
Abbs S
Jungbluth H
Muntoni F
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Źródło :
Human mutation [Hum Mutat] 2012 Jun; Vol. 33 (6), pp. 981-8. Date of Electronic Publication: 2012 Apr 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Myopathies, Structural, Congenital/*genetics
Ryanodine Receptor Calcium Release Channel/*genetics
Child ; Child, Preschool ; Female ; Genes, Dominant ; Genes, Recessive ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Pedigree
Czasopismo naukowe
Tytuł :
[Therapeutic trials for Duchenne muscular dystrophy: between hopes and disappointments].
Autorzy :
Bloetzer C; Consultation des maladies neuromusculaires, Unité de neuropédiatrie et de neuroréhabilitation pédiatrique, DMCP, CHUV, 1011 Lausanne.
Fluss J
Jeannet PY
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Transliterated Title :
Essais thérapeutiques dans la dystrophie musculaire de Duchenne: entre espoirs et désespoirs.
Źródło :
Revue medicale suisse [Rev Med Suisse] 2012 Feb 22; Vol. 8 (329), pp. 409-12.
Typ publikacji :
English Abstract; Journal Article
MeSH Terms :
Muscular Dystrophy, Duchenne/*drug therapy
Child ; Genetic Therapy ; Humans ; Muscular Dystrophy, Duchenne/genetics
Czasopismo naukowe
Tytuł :
Gait assessment in children with duchenne muscular dystrophy during long-distance walking.
Autorzy :
Ganea R; École Polytechnique Fédérale de Lausanne (EPFL), Laboratory of Movement Analysis and Measurement, Lausanne, Switzerland. />Jeannet PY
Paraschiv-Ionescu A
Goemans NM
Piot C
Van den Hauwe M
Aminian K
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Źródło :
Journal of child neurology [J Child Neurol] 2012 Jan; Vol. 27 (1), pp. 30-8. Date of Electronic Publication: 2011 Jul 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gait Disorders, Neurologic/*diagnosis
Gait Disorders, Neurologic/*etiology
Muscular Dystrophy, Duchenne/*complications
Walking/*physiology
Case-Control Studies ; Child ; Child, Preschool ; Female ; Humans ; Male ; Severity of Illness Index ; Spectrum Analysis ; Statistics, Nonparametric
Czasopismo naukowe
Tytuł :
An initial MRI picture of limbic encephalitis in subacute sclerosing panencephalitis.
Autorzy :
Lebon S; Unité de Neurologie et de Neurorehabilitation Pédiatrique, Département Médico-Chirurgical de Pédiatrie, CHUV, Lausanne, Switzerland. />Maeder P
Maeder-Ingvar M
Poloni C
Mayor-Dubois C
Roulet-Perez E
Jeannet PY
Pokaż więcej
Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2011 Nov; Vol. 15 (6), pp. 544-6. Date of Electronic Publication: 2011 May 31.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Limbic Encephalitis/*complications
Limbic Encephalitis/*diagnosis
Subacute Sclerosing Panencephalitis/*complications
Subacute Sclerosing Panencephalitis/*diagnosis
Adolescent ; Cognition Disorders/etiology ; Electroencephalography ; Epilepsies, Myoclonic/etiology ; Female ; Humans ; Magnetic Resonance Imaging
Czasopismo naukowe

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