Publications by authors named "Imen Dorboz"

34Publications

Mutation in causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.

Neurol Genet 2018 Dec 3;4(6):e289. Epub 2018 Dec 3.

INSERM UMR 1141 PROTECT (I.D., P.B., S.S., O.B.-T.), Université Paris Diderot- Sorbonne Paris Cité; INSERM U1212-CNRS UMR 5320 (H.D.-O., M.T.), Université de Bordeaux; Neurologie Pédiatrique et Maladies Métaboliques (K.B., F.R., O.B-.T.), Centre de référence des leucodystrophies et leucoencéphalopathies de cause rare (LEUKOFRANCE), CHU APHP Robert-Debré, Paris, France; LR11IPT05, Biomedical Genomics and Oncogenetics Laboratory (H.J., Y.B.), Institut Pasteur de Tunis; Department of Medical Genetics, UF Molecular Genetics (S.S.), CHU APHP Robert-Debré Paris; Service de Cytogénétique Médicale (E.E.P.), CHU Clermont-Ferrand; Neurologie Pédiatrique (C.C.), Endocrinologie Pédiatrique (C.B.), CHU Hôpital des Enfants, Toulouse; Hôpital Femme Mère Enfant, Neurologie Pédiatrique (A.L.P., C.R.), Hospices Civils de Lyon, Bron; Department of Pediatric Radiology (M.E.-B.), CHU APHP Robert-Debré, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283457PMC
December 2018

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

Metab Brain Dis 2017 12 3;32(6):2149-2154. Epub 2017 Sep 3.

Service de Génétique Médicale, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1007/s11011-017-0101-6DOI Listing
December 2017

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatr Neurol 2017 01 13;66:59-62. Epub 2016 Sep 13.

Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.003DOI Listing
January 2017

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

Mol Genet Metab Rep 2016 Jun 10;7:8-10. Epub 2016 Mar 10.

Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2016.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908062PMC
June 2016

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

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2016.03.009DOI Listing
July 2016

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

Eur J Paediatr Neurol 2016 Mar 28;20(2):323-330. Epub 2015 Nov 28.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2015.11.006DOI Listing
March 2016

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.

BMC Neurol 2015 Nov 25;15:244. Epub 2015 Nov 25.

Genetics and Molecular Pathology Laboratory, Medical school of Casablanca, Hassan II University, Casablanca, Morocco.

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http://dx.doi.org/10.1186/s12883-015-0503-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660798PMC
November 2015

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.

Neurol Sci 2016 Mar 14;37(3):403-9. Epub 2015 Nov 14.

Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, 1002, Tunis, Belvédère, Tunisia.

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http://dx.doi.org/10.1007/s10072-015-2417-5DOI Listing
March 2016

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

Eur J Med Genet 2015 Sep 21;58(9):466-70. Epub 2015 Jul 21.

Inserm U1141, Paris Diderot University - Sorbonne Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France; Reference Center for Leukodystrophies, Department of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.07.002DOI Listing
September 2015

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

Clin Biochem 2015 Dec 8;48(18):1317-23. Epub 2015 Jul 8.

Inserm U1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France; Reference Center For Leukodystrophies, Department of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00099120150026
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http://dx.doi.org/10.1016/j.clinbiochem.2015.07.004DOI Listing
December 2015

Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.

Neurology 2015 May 29;84(21):2195-7. Epub 2015 Apr 29.

From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France.

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http://dx.doi.org/10.1212/WNL.0000000000001607DOI Listing
May 2015

New spastic paraplegia phenotype associated to mutation of NFU1.

Orphanet J Rare Dis 2015 Feb 8;10:13. Epub 2015 Feb 8.

Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1186/s13023-015-0237-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333890PMC
February 2015

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Brain 2015 Feb 19;138(Pt 2):284-92. Epub 2014 Dec 19.

1 Département de Neurologie, CHU de Montpellier, 34295 Montpellier, France

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http://brain.oxfordjournals.org/content/brain/138/2/284.full
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu353DOI Listing
February 2015

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

Orphanet J Rare Dis 2014 Nov 26;9:174. Epub 2014 Nov 26.

Service de neurologie pédiatrique et des maladies métaboliques, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris, 75019, Paris, France.

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http://dx.doi.org/10.1186/s13023-014-0174-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302636PMC
November 2014

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

J Neurol Sci 2012 Jan 26;312(1-2):123-6. Epub 2011 Aug 26.

Génétique, Reproduction et Développement, Unité Mixte de Recherche 931 (Institut National de la Santé et de la Recherche médicale), Faculté de médecine, Clermont-Ferrand, France.

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http://dx.doi.org/10.1016/j.jns.2011.08.006DOI Listing
January 2012

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

J Neurol Sci 2009 Dec 21;287(1-2):278-80. Epub 2009 Aug 21.

Child Neurological Diseases Unit, Faculty of Medicine, Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.jns.2009.07.023DOI Listing
December 2009

Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients.

Tunis Med 2006 Aug;84(8):465-9

Department of Human Genetics Charles, Nicolle Hospital, Tunis, Tunisia.

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August 2006