Imen Dorboz : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (24)
Les plus populaires
Liste
- Liste
- Tableau

1

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation inTOR1AIP1

Dorboz, Imen, Coutelier, Marie, Bertrand, Anne T, Caberg, Jean-Hubert, Elmaleh-Bergès, Monique, Lainé, Jeanne, Stevanin, Giovanni, Bonne, Gisèle, Boespflug-Tanguy, Odile, Servais, Laurent

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 1.41 MB

english, 2014

2

New spastic paraplegia phenotype associated to mutation of NFU1

Tonduti, Davide, Dorboz, Imen, Imbard, Apolline, Slama, Abdelhamid, Boutron, Audrey, Pichard, Samia, Elmaleh, Monique, Vallée, Louis, Benoist, Jean, Ogier, Heléne, Boespflug-Tanguy, Odile

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 545 KB

english, 2015

3

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

Ardissone, Anna, Tonduti, Davide, Legati, Andrea, Lamantea, Eleonora, Barone, Rita, Dorboz, Imen, Boespflug-Tanguy, Odile, Nebbia, Gabriella, Maggioni, Marco, Garavaglia, Barbara, Moroni, Isabella, Fa

Journal:

Orphanet Journal of Rare Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 1.81 MB

english, 2018

4

Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

Sarret, Catherine, Ashkavand, Zahra, Paules, Evan, Dorboz, Imen, Pediaditakis, Peter, Sumner, Susan, Eymard-Pierre, Eléonore, Francannet, Christine, Krupenko, Natalia I., Boespflug-Tanguy, Odile, Krup

Journal:

npj Genomic Medicine

Année:

2019

Fichier:

PDF, 2.37 MB

2019

5

Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations

Pierre Labauge, Imen Dorboz, Eleonore Eymard-Pierre, Olivier Dereeper, Odile Boespflug-Tanguy

Journal:

Journal of Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 312 KB

english, 2011

6

Neurodegenerative Disorder Related to AIMP1/p43 Mutation Is Not a PMLD

Odile Boespflug-Tanguy, Patrick Aubourg, Imen Dorboz, Mélina Bégou, Geneviève Giraud, Catherine Sarret, Catherine Vaurs-Barrière

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 249 KB

english, 2011

7

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)

Imen Dorboz, Eleonore Eymard-Pierre, Rym Kefi, Sonia Abdelhak, Najoua Miladi, Odile Boespflug-Tanguy

Journal:

Journal of the Neurological Sciences

Année:

2009

Langue:

english

Fichier:

PDF, 345 KB

english, 2009

8

Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

Catherine Sarret, Mélanie Rigal, Catherine Vaurs-Barrière, Imen Dorboz, Eléonore Eymard-Pierre, Patricia Combes, Geneviève Giraud, Ronald J.A. Wanders, Alexandra Afenjar, Christine Francannet, Odile B

Journal:

Journal of the Neurological Sciences

Année:

2012

Langue:

english

Fichier:

PDF, 475 KB

english, 2012

9

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

Cacciagli, Pierre, Sutera-Sardo, Julie, Borges-Correia, Ana, Roux, Jean-Christophe, Dorboz, Imen, Desvignes, Jean-Pierre, Badens, Catherine, Delepine, Marc, Lathrop, Mark, Cau, Pierre, Lévy, Nicolas,

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.41 MB

english, 2013

10

Identification de gènes en cause dans les leucodystrophies de cause indéterminée

Gueden, Sophie, Dorboz, Imen, Boespflug-Tanguy, Odile

Journal:

Revue Neurologique

Année:

2012

Langue:

french

Fichier:

PDF, 67 KB

french, 2012

11

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Louha, Malek, Bouyacoub, Yosra, Laroussi, Nadia, Chargui, Mariem, Kefi, Rym, Jonard, Laurence, Dorboz, Imen, Hardelin, Jean-Pierre, Salah, Sihem Belhaj, Lev

Journal:

Année:

2014

Langue:

french

Fichier:

PDF, 544 KB

french, 2014

12

Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients

Ferreira, Marie-Céleste, Dorboz, Imen, Rodriguez, Diana, Boespflug Tanguy, Odile

Journal:

European Journal of Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 684 KB

english, 2015

13

Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome

Ferreira, Marie-Céleste, Dorboz, Imen, Boespflug-Tanguy, Odile

Journal:

Clinical Biochemistry

Année:

2015

Langue:

english

Fichier:

PDF, 901 KB

english, 2015

14

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients

Tonduti, Davide, Aiello, Chiara, Renaldo, Florence, Dorboz, Imen, Saaman, Simon, Rodriguez, Diana, Fettah, Houda, Elmaleh, Monique, Biancheri, Roberta, Barresi, Sabina, Boccone, Loredana, Orcesi, Simo

Journal:

European Journal of Paediatric Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 1019 KB

english, 2015

15

Determination ofarylsulfatase A pseudodeficiencyallele and haplotype frequency in the Tunisian population

Ben Halim, Nizar, Dorboz, Imen, Kefi, Rym, Kharrat, Najla, Eymard-Pierre, Eleonore, Nagara, Majdi, Romdhane, Lilia, Ben Alaya-Bouafif, Nissaf, Rebai, Ahmed, Miladi, Najoua, Boespflug-Tanguy, Odile, Ab

Journal:

Neurological Sciences

Année:

2016

Langue:

english

Fichier:

PDF, 523 KB

english, 2016

16

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel

Journal:

Molecular Genetics and Metabolism Reports

Année:

2016

Langue:

english

Fichier:

PDF, 219 KB

english, 2016

17

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

Tonduti, Davide, Orcesi, Simona, Jenkinson, Emma M., Dorboz, Imen, Renaldo, Florence, Panteghini, Celeste, Rice, Gillian I., Henneke, Marco, Livingston, John H., Elmaleh, Monique, Burglen, Lydie, Will

Journal:

European Journal of Paediatric Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2016

18

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of thePLP1gene in a girl with classical Pelizaeus-Merzbacher disease

Masliah-Planchon, Julien, Dupont, Céline, Vartzelis, George, Trimouille, Aurélien, Eymard-Pierre, Eléonore, Gay-Bellile, Mathilde, Renaldo, Florence, Dorboz, Imen, Pagan, Cécile, Quentin, Samuel, Elma

Journal:

BMC Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2015

19

A novel mutation in theABCD1gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report

Karkar, Adnane, Barakat, Abdelhamid, Bakhchane, Amina, Fettah, Houda, Slassi, Ilham, Dorboz, Imen, Boespflug-Tanguy, Odile, Nadifi, Sellama

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 778 KB

english, 2015

20

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Dorboz, Imen, Aiello, Chiara, Simons, Cas, Stone, Robert Thompson, Niceta, Marcello, Elmaleh, Monique, Abuawad, Mohammad, Doummar, Diane, Bruselles, Alessandro, Wolf, Nicole I., Travaglini, Lorena, Bo

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 416 KB

english, 2017

21

Mutation in the AGK gene in two siblings with unusual Sengers syndrome

Allali, Sanae, Dorboz, Imen, Samaan, Simon, Slama, Abdelhamid, Rambaud, Charlène, Boespflug-Tanguy, Odile, Sarret, Catherine

Journal:

Metabolic Brain Disease

Année:

2017

Langue:

english

Fichier:

PDF, 855 KB

english, 2017

22

SLC13A3 variants cause acute reversible leukoencephalopathy and αKG accumulation

Dewulf, Joseph P., Wiame, Elsa, Dorboz, Imen, Elmaleh-Bergès, Monique, Imbard, Apolline, Dumitriu, Dana, Rak, Malgorzata, Bourillon, Agnès, Helaers, Raphaël, Malla, Alisha, Renaldo, Florence, Boespflu

Journal:

Annals of Neurology

Année:

2019

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2019

23

Genetic aspect of leukodystrophies in Moroccan population

Karkar, Adnane, Dorboz, Imen, Nadifi, Sellama, Boespflug-Tanguy, Odile

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 77 KB

english, 2019

24

Genetic aspect of leukodystrophies in Moroccan population

Karkar, Adnane, Dorboz, Imen, Nadifi, Sellama, Boespflug-Tanguy, Odile

Journal:

Année:

2019

Fichier:

PDF, 77 KB

2019