Christine Barnerias: search on Z-Library

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1

Les maladies neuromusculaires chez l’enfant : place et définition des soins palliatifs ?

Desguerre, Isabelle, Barnerias, Christine

Journal:

Médecine Palliative : Soins de Support - Accompagnement - Éthique

Year:

2010

Language:

french

File:

PDF, 161 KB

french, 2010

2

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

Audic, FrÃ©dÃ©rique, de la Banda, Marta Gomez Garcia, Bernoux, Delphine, Ramirez-Garcia, Paola, Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Cuisset, Jean-Marie, Cances, Claude, Richelme,

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.41 MB

2020

3

Whole-body muscle magnetic resonance imaging in SEPN1 -related myopathy shows a homogeneous and recognizable pattern

Hankiewicz, Karolina, Carlier, Robert Y., Lazaro, Leila, Linzoain, Javier, Barnerias, Christine, Gómez-Andrés, David, Avila-Smirnow, Daniela, Ferreiro, Ana, Estournet, Brigitte, Guicheney, Pascale, Ge

Journal:

Year:

2015

Language:

english

File:

PDF, 321 KB

english, 2015

4

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

Journal:

European Journal of Neurology

Year:

2020

File:

PDF, 4.84 MB

2020

5

Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis

Aouizerate, Jessie, De Antonio, Marie, Bader-Meunier, Brigitte, Barnerias, Christine, Bodemer, Christine, Isapof, Arnaud, Quartier, Pierre, Melki, Isabelle, Charuel, Jean-Luc, Bassez, Guillaume, Desgu

Journal:

Year:

2018

Language:

english

File:

PDF, 696 KB

english, 2018

6

Les principaux changements apportés par la trachéotomie chez des enfants atteints de maladies neuromusculaires

Rul, Brigitte, Quijano-Roy, Susana, Golse, Anne, Beynier, Dominique, Estournet, Brigitte, Desguerre, Isabelle, Barnerias, Christine, Herve, Christian

Journal:

Recherche en soins infirmiers

Year:

2013

Language:

french

File:

PDF, 678 KB

french, 2013

7

Very low residual dystrophin quantity is associated with milder dystrophinopathy

Feraudy, Yvan, Yaou, Rabah Ben, Wahbi, Karim, Stalens, Caroline, Stantzou, Amalia, Laugel, Vincent, Desguerre, Isabelle, Barnerias, Christine, Behin, Anthony, Bellance, RÃ©mi, Berquin, Patrick, Boyer,

Journal:

Annals of Neurology

Year:

2020

File:

PDF, 4.61 MB

2020

8

Adenoviral Infection Presenting as an Isolated Central Nervous System Disease without Detectable Viremia in Two Children after Stem Cell Transplantation

Frange, Pierre, Peffault de Latour, Régis, Arnaud, Cécile, Boddaert, Nathalie, Oualha, Mehdi, Avettand-Fenoel, Véronique, Bernaudin, Françoise, Aguilar, Claire, Barnerias, Christine, Leruez-Ville, Mar

Journal:

Journal of Clinical Microbiology

Year:

2011

Language:

english

File:

PDF, 268 KB

english, 2011

9

Sleep in infants with congenital myasthenic syndromes

Caggiano, Serena, Khirani, Sonia, Verrillo, Elisabetta, Barnerias, Christine, Amaddeo, Alessandro, Gitiaux, Cyril, Thierry, Briac, Desguerre, Isabelle, Cutrera, Renato, Fauroux, Brigitte

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 853 KB

english, 2017

10

Pitfalls in molecular diagnosis of Friedreich ataxia

Barcia, Giulia, Rachid, Myriam, Magen, Maryse, Assouline, Zahra, Koenig, Michel, Funalot, Benoit, Barnerias, Christine, Rötig, Agnès, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.63 MB

english, 2018

11

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

Journal:

Developmental Medicine & Child Neurology

Year:

2006

Language:

english

File:

PDF, 295 KB

english, 2006

12

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

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

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 332 KB

english, 2010

13

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

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 306 KB

english, 2010

14

Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis

Gitiaux, Cyril, De Antonio, Marie, Aouizerate, Jessie, Gherardi, Romain K., Guilbert, Thomas, Barnerias, Christine, Bodemer, Christine, Brochard-Payet, Karine, Quartier, Pierre, Musset, Lucile, Chazau

Journal:

Year:

2015

Language:

english

File:

PDF, 714 KB

english, 2015

15

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

Malfatti, Edoardo, Barnerias, Christine, Hedberg-Oldfors, Carola, Gitiaux, Cyril, Benezit, Audrey, Oldfors, Anders, Carlier, Robert-Yves, Quijano-Roy, Susana, Romero, Norma B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 701 KB

english, 2016

16

Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial

Fauroux, Brigitte, Amaddeo, Alessandro, Quijano-Roy, Susana, Barnerias, Christine, Desguerre, Isabelle, Khirani, Sonia

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 918 KB

english, 2018

17

Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia

Nadia Bahi-Buisson, Manoelle Kossorotoff, Christine Barnerias, Nathalie Boddaert, Marie Bourgeois, Olivier Dulac, Perrine Plouin, Catherine Chiron, Lucie Hertz-Pannier

Journal:

Developmental Medicine & Child Neurology

Year:

2005

Language:

english

File:

PDF, 1.12 MB

english, 2005

18

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

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

Journal:

Médecine Palliative : Soins de Support - Accompagnement - Éthique

Year:

2013

Language:

french

File:

PDF, 535 KB

french, 2013

19

Motor neuropathy contributes to crouching in patients with Dravet syndrome

Gitiaux, Cyril, Chemaly, Nicole, Quijano-Roy, Susana, Barnerias, Christine, Desguerre, Isabelle, Hully, Marie, Chiron, Catherine, Dulac, Olivier, Nabbout, Rima

Journal:

Year:

2016

Language:

english

File:

PDF, 306 KB

english, 2016

20

Medical News.

Desguerre, Isabelle, Barnerias, Christine

Journal:

Year:

1889

Language:

english

File:

PDF, 419 KB

english, 1889

21

Medical Societies

Desguerre, Isabelle, Barnerias, Christine

Journal:

Year:

1953

Language:

english

File:

PDF, 570 KB

english, 1953

22

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardi

Journal:

Year:

2014

Language:

english

File:

PDF, 1.62 MB

english, 2014

23

Apport de l’exploration du sommeil pour l’orientation diagnostique d’une détresse respiratoire aigüe chez le nourrisson hospitalisé en USIP

Griffon, Lucie, Amaddeo, Alessandro, Mortamet, Guillaume, Barnerias, Christine, Abadie, Veronique, Olmo, Jorge, De Sanctis, Livio, Renolleau, Sylvain, Fauroux, Brigitte

Journal:

Médecine du Sommeil

Year:

2017

Language:

french

File:

PDF, 50 KB

french, 2017

24

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

Journal:

Brain and Development

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

25

Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study

De Liso, Paola, Chemaly, Nicole, Laschet, Jacques, Barnerias, Christine, Hully, Marie, Leunen, Dorothée, Desguerre, Isabelle, Chiron, Catherine, Dulac, Olivier, Nabbout, Rima

Journal:

Epilepsy Research

Year:

2016

Language:

english

File:

PDF, 621 KB

english, 2016

26

Acute axonal neuropathy subtype of Guillain Barré syndrome in a French pediatric series: adequate follow-up may require repetitive electrophysiological studies

Chareyre, Judith, Hully, Marie, Simonnet, Hina, Musset, Lucile, Barnerias, Christine, Kossorotoff, Manoelle, Quijano-Roy, Susana, Desguerre, Isabelle, Gitiaux, Cyril

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 615 KB

english, 2017

27

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children

Barcia, Giulia, Desguerre, Isabelle, Carmona, Orietta, Barnerias, Christine, Chemaly, Nicole, Gitiaux, Cyril, Brunelle, Francis, Dulac, Olivier, Boddaert, Nathalie, Nabbout, Rima

Journal:

Developmental Medicine & Child Neurology

Year:

2013

Language:

english

File:

PDF, 361 KB

english, 2013

28

Clinical Features and Evolution of Juvenile Myasthenia Gravis In a French Cohort

Barraud, Coline, Desguerre, Isabelle, Barnerias, Christine, Gitiaux, Cyril, Boulay, Christophe, Chabrol, Brigitte

Journal:

Year:

2017

Language:

english

File:

PDF, 801 KB

english, 2017

29

Syndrome de Chanarin-Dorfman

Barnérias, Christine, Bassez, Guillaume, Schischmanoff, Olivier

Journal:

médecine/sciences

Year:

2015

Language:

french

File:

PDF, 926 KB

french, 2015

30

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

Journal:

Brain and Development

Year:

2008

Language:

english

File:

PDF, 326 KB

english, 2008

31

Sleep study as a diagnostic tool for unexplained respiratory failure in infants hospitalized in the PICU

Griffon, Lucie, Amaddeo, Alessandro, Mortamet, Guillaume, Barnerias, Christine, Abadie, Véronique, Olmo, Jorge, de Sanctis, Livio, Renolleau, Sylvain, Fauroux, Brigitte

Journal:

Journal of Critical Care

Year:

2016

Language:

english

File:

PDF, 785 KB

english, 2016

32

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

Hully, Marie, Barnerias, Christine, Chabalier, Delphine, Le Guen, Sophie, Germa, Virginie, Deladriere, Elodie, Vanhulle, Catherine, Cuisset, Jean-Marie, Chabrol, Brigitte, Cances, Claude, Vuillerot, C

Journal:

Frontiers in Pediatrics

Year:

2020

File:

PDF, 1.20 MB

2020

33

Detection of interferon alpha protein reveals differential levels and cellular sources in disease

Rodero, Mathieu P., Decalf, Jérémie, Bondet, Vincent, Hunt, David, Rice, Gillian I., Werneke, Scott, McGlasson, Sarah L., Alyanakian, Marie-Alexandra, Bader-Meunier, Brigitte, Barnerias, Christine, Be

Journal:

Journal of Experimental Medicine

Year:

2017

Language:

english

File:

PDF, 1.45 MB

english, 2017

34

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

Journal:

Year:

2006

Language:

english

File:

PDF, 543 KB

english, 2006

35

Assessment of respiratory muscles and motor function in children with SMA treated by Nusinersen

Banda, Marta GÃ³mezâGarcÃa, Amaddeo, Alessandro, Khirani, Sonia, Pruvost, Sandrine, Barnerias, Christine, Dabaj, Ivana, BÃ©nÃ©zit, Audrey, Durigneux, Julien, Carlier, Robert Yves, Desguerre, Isabel

Journal:

Pediatric Pulmonology

Year:

2020

File:

PDF, 581 KB

2020

36

Le syndrome de Dravet : une neuropathie axonale motrice pourrait contribuer au phénotype moteur

Gitiaux, Cyril, Chemaly, Nicole, Quijano, Susana, Barnerias, Christine, Desguerre, Isabelle, Hully, Marie, Chiron, Catherine, Dulac, Olivier, Nabbout, Rima

Journal:

Neurophysiologie Clinique/Clinical Neurophysiology

Year:

2016

Language:

french

File:

PDF, 48 KB

french, 2016

37

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,

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 605 KB

english, 2014

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