ISABELLE DESGUERRE: шукати на сайті Z-Library

Darmency-Stamboul, Véronique, Burglen, Lydie, Lopez, Estelle, Mejean, Nathalie, Dean, John, Franco, Brunella, Rodriguez, Diana, Lacombe, Didier, Desguerres, Isabelle, Cormier-Daire, Valérie, Doray, Bé

Рік:

2012

Мова:

english

Файл:

PDF, 728 KB

english, 2012

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Журнал:

Fauroux, Brigitte, Quijano-Roy, Susana, Desguerre, Isabelle, Khirani, Sonia

Рік:

2013

Мова:

english

Файл:

PDF, 1.11 MB

english, 2013

The Value of Respiratory Muscle Testing in Children With Neuromuscular Disease

Журнал:

CHEST Journal

Рік:

2015

Мова:

english

Файл:

PDF, 552 KB

english, 2015

Rare ACTG1 variants in fetal microlissencephaly

Poirier, Karine, Martinovic, Jelena, Laquerrière, Annie, Cavallin, Mara, Fallet-Bianco, Catherine, Desguerre, Isabelle, Valence, Stephanie, Grande-Goburghun, Jocelyne, Francannet, Christine, Deleuze,

Журнал:

Grotto, Sarah, Cuisset, Jean-Marie, Marret, Stéphane, Drunat, Séverine, Faure, Patricia, Audebert-Bellanger, Séverine, Desguerre, Isabelle, Flurin, Vincent, Grebille, Anne-Gaëlle, Guerrot, Anne-Marie,

Рік:

2015

Мова:

english

Файл:

PDF, 399 KB

english, 2015

Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations

Breuillard, Delphine, Leunen, Dorothée, Chemaly, Nicole, Auclair, Laurent, Pinard, Jean Marc, Kaminska, Anna, Desguerre, Isabelle, Ouss, Lisa, Nabbout, Rima

Журнал:

Epilepsy & Behavior

Рік:

2016

Мова:

english

Файл:

PDF, 420 KB

english, 2016

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients

Журнал:

Journal of Neuromuscular Diseases

Рік:

2016

Мова:

english

Файл:

PDF, 80 KB

english, 2016

Clinical correlations and longâterm followâup in 100 patients with sarcoglycanopathies

GuimarÃ£esâCosta, Raquel, FernÃ¡ndezâEulate, Gorka, Wahbi, Karim, Leturcq, France, Malfatti, Edoardo, Behin, Anthony, LeonardâLouis, Sarah, Desguerre, Isabelle, Barnerias, Christine, Nougues, Ma

Журнал:

European Journal of Neurology

Рік:

2020

Файл:

PDF, 4.84 MB

2020

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene

Runu Dey, Manuele Mine, Isabelle Desguerre, Abdelhamid Slama, Loic Van Den Berghe, Michèle Brivet, Bernard Aral, Cécile Marsac

Журнал:

Annals of Neurology

Рік:

2003

Мова:

english

Файл:

PDF, 175 KB

english, 2003

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element

Manuèle Miné, Jian-Min Chen, Michèle Brivet, Isabelle Desguerre, Dominique Marchant, Pascale de Lonlay, Aral Bernard, Claude Férec, Marc Abitbol, Daniel Ricquier, Cécile Marsac

Журнал:

Human Mutation

Рік:

2007

Мова:

english

Файл:

PDF, 281 KB

english, 2007

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Guntram Borck, Anahi Mollà-Herman, Nathalie Boddaert, Férechté Encha-Razavi, Anne Philippe, Laurence Robel, Isabelle Desguerre, Francis Brunelle, Alexandre Benmerah, Arnold Munnich, Laurence Colleaux

Журнал:

Human Mutation

Рік:

2008

Мова:

english

Файл:

PDF, 344 KB

english, 2008

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Caroline Michot, Laurence Hubert, Michèle Brivet, Linda De Meirleir, Vassili Valayannopoulos, Wolfgang Müller-Felber, Ramesh Venkateswaran, Hélène Ogier, Isabelle Desguerre, Cécilia Altuzarra, Elizabe

Журнал:

Human Mutation

Рік:

2010

Мова:

english

Файл:

PDF, 291 KB

english, 2010

An unexpected EEG course in Dravet syndrome

Rima Nabbout, Isabelle Desguerre, Sandra Sabbagh, Christel Depienne, Perrine Plouin, Olivier Dulac, Catherine Chiron

Журнал:

Epilepsy Research

Рік:

2008

Мова:

english

Файл:

PDF, 495 KB

english, 2008

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

Christine Barnérias MD, , Irina Giurgea, Lucie Hertz-Pannier, Nadia Bahi-Buisson, Nathalie Boddaert, Pierre Rustin PhD, , Agnés Rotig, Isabelle Desguerre, Arnold Munnich, Pascale de Lonlay

Журнал:

Journal of Inherited Metabolic Disease

Рік:

2006

Мова:

english

Файл:

PDF, 295 KB

english, 2006

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

Cécile Marsac, Chantal Benelli, Isabelle Desguerre, Monique Diry, Françoise Fouque, L. De Meirleir, Gérard Ponsot, S. Seneca, Florence Poggi, Jean-Marie Saudubray, Marie-Thérèse Zabot, Daniel Fontan,

Журнал:

Human Genetics

Рік:

1997

Мова:

english

Файл:

PDF, 114 KB

english, 1997

AFOXG1mutation in a boy with congenital variant of Rett syndrome

Tangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, Nathalie Boddaert, Yann Fichou, Bertrand Diebold, Isabelle Desguerre, Florence Raqbi, Valérie Cormier Daire, Jamel Chelly, Thierry Bienvenu

Журнал:

neurogenetics

Рік:

2011

Мова:

english

Файл:

PDF, 264 KB

english, 2011

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

Vassili Valayannopoulos, Nathalie Boddaert, Allel Chabli, Valerie Barbier, Isabelle Desguerre, Anne Philippe, Alexandra Afenjar, Michel Mazzuca, David Cheillan, Arnold Munnich, Yves de Keyzer, Corneli

Журнал:

Рік:

2012

Мова:

english

Файл:

PDF, 203 KB

english, 2012

Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus?

Isabelle Desguerre, Ixtasu Marti, Vassili Valayannopoulos, Nadia Bahi-Buisson, Olivier Dulac, Perrine Plouin, Pascale DeLonlay, Lucie Hertz-Pannier, Nathalie Boddaert

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 253 KB

english, 2008

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

CHRISTINE BARNERIAS, JEAN-MARIE SAUDUBRAY, GUY TOUATI, PASCALE DE LONLAY, OLIVIER DULAC, GERARD PONSOT, CÉCILE MARSAC, MICHÈLE BRIVET, ISABELLE DESGUERRE

Журнал:

MANOELLE KOSSOROTOFF, CORALIE GONIN-FLAMBOIS, CYRIL GITIAUX, SUSANA QUIJANO, NATHALIE BODDAERT, NADIA BAHI-BUISSON, CHRISTINE BARNERIAS, OLIVIER DULAC, FRANCIS BRUNELLE, ISABELLE DESGUERRE

Рік:

2010

Мова:

english

Файл:

PDF, 306 KB

english, 2010

A cognitive and affective pattern in posterior fossa strokes in children: a case series

Журнал:

Stéphane Chabrier, Isabelle Desguerre, Mélanie Porte, Claude Payet, François Rivier, for the Neuromuscular Commission of the Société Française de Neurologie Pédiatrique

Рік:

2010

Мова:

english

Файл:

PDF, 332 KB

english, 2010

Angiotensin-converting-enzyme inhibitors versus steroids as first-line drug treatment in Duchenne muscular dystrophy

Журнал:

Gitiaux, Cyril, Ceballos-Picot, Irène, Marie, Sandrine, Valayannopoulos, Vassili, Rio, Marlène, Verrieres, Séverine, Benoist, Jean François, Vincent, Marie Françoise, Desguerre, Isabelle, Bahi-Buisson

Рік:

2010

Мова:

english

Файл:

PDF, 74 KB

english, 2010

Epilepsy in Menkes Disease: Analysis of Clinical Stages

Nadia Bahi-Buisson, Anna Kaminska, Rima Nabbout, Christine Barnerias, Isabelle Desguerre, Pascale De Lonlay, Michele Mayer, Perrine Plouin, Olivier Dulac, Catherine Chiron

Журнал:

Epilepsia

Рік:

2006

Мова:

english

Файл:

PDF, 543 KB

english, 2006

Epileptic phenotypes in children with respiratory chain disorders

Sandra El Sabbagh, Anne-Sophie Lebre, Nadia Bahi-Buisson, Pascale Delonlay, Christine Soufflet, Nathalie Boddaert, Marlène Rio, Agnès Rötig, Olivier Dulac, Arnold Munnich, Isabelle Desguerre

Журнал:

Epilepsia

Рік:

2010

Мова:

english

Файл:

PDF, 844 KB

english, 2010

Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: A prospective pilot study

Rima Nabbout, Cristiana Copioli, Mathilde Chipaux, Nicole Chemaly, Isabelle Desguerre, Olivier Dulac, Catherine Chiron

Журнал:

Epilepsia

Рік:

2011

Мова:

english

Файл:

PDF, 57 KB

english, 2011

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Журнал:

Moghadaszadeh, Behzad, Petit, Nathalie, Jaillard, Céline, Brockington, Martin, Roy, Susana Quijano, Merlini, Luciano, Romero, Norma, Estournet, Brigitte, Desguerre, Isabelle, Chaigne, Denys, Muntoni,

Рік:

2008

Мова:

english

Файл:

PDF, 101 KB

english, 2008

10.1038/ng713

Журнал:

Nature Genetics

Рік:

2001

Мова:

english

Файл:

PDF, 492 KB

english, 2001

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

Viollet, Louis, Zarhrate, Mohammed, Maystadt, Isabelle, Estournet-Mathiaut, Brigitte, Barois, Annie, Desguerre, Isabelle, Mayer, Michèle, Chabrol, Brigitte, LeHeup, Bruno, Cusin, Veronica

Журнал:

Laugel, Vincent, Dalloz, Cecile, Stary, Anne, Cormier-Daire, Valerie, Desguerre, Isabelle, Renouil, Michel, Fourmaintraux, Alain, Velez-Cruz, Renier, Egly, Jean-Marc, Sarasin, Alain

Рік:

2004

Мова:

english

Файл:

PDF, 202 KB

english, 2004

Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome

Журнал:

The American Journal of Human Genetics

Рік:

2008

Мова:

english

Файл:

PDF, 253 KB

english, 2008

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Julie Mollet, Agnès Delahodde, Valérie Serre, Dominique Chretien, Dimitri Schlemmer, Anne Lombes, Nathalie Boddaert, Isabelle Desguerre, Pascale de Lonlay, Hélène Ogier de Baulny, Arnold Munnich, Agnè

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 905 KB

english, 2008

Unusual magnetic resonance imaging features in Menkes disease

Christine Barnerias, Nathalie Boddaert, Guiraud Pascale, Desguerre Isabelle, Lucie Hertz Pannier, Olivier Dulac, Pascale de Lonlay, Nadia Bahi Buisson

Журнал:

Brain and Development

Рік:

2008

Мова:

english

Файл:

PDF, 326 KB

english, 2008

Tumor-like enlargement of the optic chiasm in an infant with Alexander disease

Cyril Mignot, Isabelle Desguerre, Lydie Burglen, Lucie Hertz-Pannier, Florence Renaldo, Jean-François Gadisseux, Serge Gallet, Danielle Pham-Dinh, Odile Boespflug-Tanguy, Diana Rodriguez

Журнал:

Brain and Development

Рік:

2009

Мова:

english

Файл:

PDF, 200 KB

english, 2009

Erratum to “Unusual magnetic resonance imaging features in Menkes disease” [Brain Dev. 30 (2008) 489–492]

Christine Barnerias, Nathalie Boddaert, Pascale Guiraud, Isabelle Desguerre, Lucie Hertz Pannier, Olivier Dulac, Pascale de Lonlay, Nadia Bahi Buisson

Журнал:

Brain and Development

Рік:

2009

Мова:

english

Файл:

PDF, 55 KB

english, 2009

Opsoclonus–myoclonus in children associated or not with neuroblastoma

Pauline Krug, Gudrun Schleiermacher, Jean Michon, Dominique Valteau-Couanet, Hervé Brisse, Michel Peuchmaur, Sabine Sarnacki, Hélène Martelli, Isabelle Desguerre, Marc Tardieu

Журнал:

European Journal of Paediatric Neurology

Рік:

2010

Мова:

english

Файл:

PDF, 503 KB

english, 2010

Unusual Muscular Injury in an Infant With Severe H1N1 Infection

Romain Guedj, Isabelle Desguerre, Anaïs Brassier, Nathalie Boddaert, Philippe Hubert, Mehdi Oualha

Журнал:

Pediatric Neurology

Рік:

2012

Мова:

english

Файл:

PDF, 312 KB

english, 2012

Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36

Behzad Moghadaszadeh, Isabelle Desguerre, Haluk Topaloglu, Francesco Muntoni, Sylvana Pavek, Caroline Sewry, Michèle Mayer, Michel Fardeau, Fernando M.S. Tomé, Pascale Guicheney

Журнал:

The American Journal of Human Genetics

Рік:

1998

Мова:

english

Файл:

PDF, 515 KB

english, 1998

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Valérie Cormier-Daire, Nathalie Dagoneau, Rima Nabbout, Lydie Burglen, Clotilde Penet, Christine Soufflet, Isabelle Desguerre, Arnold Munnich, Olivier Dulac

Журнал:

The American Journal of Human Genetics

Рік:

2000

Мова:

english

Файл:

PDF, 745 KB

english, 2000

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency

Eric Boitier, Françoise Degoul, Isabelle Desguerre, Christiane Charpentier, Dominique François, Gérard Ponsot, Monique Diry, Pierre Rustin, Cécile Marsac

Журнал:

Journal of the Neurological Sciences

Рік:

1998

Мова:

english

Файл:

PDF, 66 KB

english, 1998

Cerebral vasculitis in severe Kawasaki disease: early detection by magnetic resonance imaging and good outcome after intensive treatment

GITIAUX, CYRIL, KOSSOROTOFF, MANOELLE, BERGOUNIOUX, JEAN, ADJADJ, ELIAS, LESAGE, FABRICE, BODDAERT, NATHALIE, HULLY, MARIE, BRUGEL, DOMINIQUE, DESGUERRE, ISABELLE, BADER-MEUNIER, BRIGITTE

Журнал:

Oualha, Mehdi, Gatterre, Pauline, Boddaert, Nathalie, Dupic, Laurent, Saint Blanquat, Laure, Hubert, Philippe, Lesage, Fabrice, Desguerre, Isabelle

Рік:

2012

Мова:

english

Файл:

PDF, 232 KB

english, 2012

Early diffusion-weighted magnetic resonance imaging in children after cardiac arrest may provide valuable prognostic information on clinical outcome

Журнал:

Intensive Care Medicine

Рік:

2013

Мова:

english

Файл:

PDF, 243 KB

english, 2013

Medical Societies

Desguerre, Isabelle, Barnerias, Christine

Журнал:

The Lancet

Рік:

1953

Мова:

english

Файл:

PDF, 570 KB

english, 1953

Medical News.

Desguerre, Isabelle, Barnerias, Christine

Журнал:

The Lancet

Рік:

1889

Мова:

english

Файл:

PDF, 419 KB

english, 1889

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Barcia, Giulia, Chemaly, Nicole, Gobin, Stephanie, Milh, Mathieu, Van Bogaert, Patrick, Barnerias, Christine, Kaminska, Anna, Dulac, Olivier, Desguerre, Isabelle, Cormier, Valerie, Boddaert, Nathalie,

Журнал:

Le Divenah, Aude, Barnerias, Christine, David, Stéphane, Viallard, Marcel-Louis, Desguerre, Isabelle

Рік:

2014

Мова:

english

Файл:

PDF, 605 KB

english, 2014

Mutations in Lamin A/C Gene Causes Mechanosensing Defects in Human Myoblasts

Bertrand, Anne, Ehret, Camille, Mamchaoui, Kamel, Ziaei, Simindokht, Lainé, Jeanne, Mayer, Michèle, Desguerre, Isabelle, Bonne, Gisèle, Coirault, Catherine

Журнал:

Biophysical Journal

Рік:

2013

Мова:

english

Файл:

PDF, 37 KB

english, 2013

Évolution des enfants atteints d’amyotrophie spinale de type 1 : synthèse de la littérature et démarche palliative

Журнал:

Médecine Palliative : Soins de Support - Accompagnement - Éthique

Рік:

2013

Мова:

french

Файл:

PDF, 535 KB

french, 2013

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Thomas, Sophie, Cantagrel, Vincent, Mariani, Laura, Serre, Valérie, Lee, Ji-Eun, Elkhartoufi, Nadia, de Lonlay, Pascale, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Lyonnet, Stanislas, V

Журнал:

Kossorotoff, Manoelle, Lasne, Dominique, Brousse, Valentine, Desguerre, Isabelle, de Montalembert, Mariane, Gaussem, Pascale

Рік:

2015

Мова:

english

Файл:

PDF, 2.15 MB

english, 2015

Imbalanced coagulation profile as a biomarker of migraine in children with sickle cell: Is this a link with cerebral ischemia?

Журнал:

The Journal of Pediatrics

Рік:

2014

Мова:

english

Файл:

PDF, 126 KB

english, 2014

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome

Gitiaux, Cyril, Blin-Rochemaure, Nathalie, Hully, Marie, Echaniz-Laguna, Andoni, Calmels, Nadège, Bahi-Buisson, Nadia, Desguerre, Isabelle, Dabaj, Ivana, Wehbi, Samer, Quijano-Roy, Susana, Laugel, Vin

Журнал:

Clinical Neurophysiology

Рік:

2015

Мова:

english

Файл:

PDF, 413 KB

english, 2015

Brain magnetic resonance imaging pattern and outcome in children with haemolytic-uraemic syndrome and neurological impairment treated with eculizumab

Gitiaux, Cyril, Krug, Pauline, Grevent, David, Kossorotoff, Manoelle, Poncet, Sarah, Eisermann, Monika, Oualha, Mehdi, Boddaert, Nathalie, Salomon, Remi, Desguerre, Isabelle

Журнал: