Publications by authors named "Manuele Miné"

23Publications

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Eur J Med Genet 2018 Dec 11;61(12):765-772. Epub 2018 Oct 11.

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades Hospital, Paris, France; National Rare Disease Center- Centre de Référence "Déficiences Intellectuelles de Causes Rares", AP-HP, Necker Enfants Malades, 75015, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173084
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http://dx.doi.org/10.1016/j.ejmg.2018.10.004DOI Listing
December 2018

Amyloid imaging by F-florbetaben PET in a patient with isolated microbleeds and leukoencephalopathy.

Acta Neurol Belg 2016 Dec 29;116(4):623-625. Epub 2015 Dec 29.

Department of Nuclear Medicine, CHU Nîmes, Hôpital Caremeau, Nîmes Cedex 4, France.

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http://dx.doi.org/10.1007/s13760-015-0589-7DOI Listing
December 2016

Late diagnosis of COL4A1 mutation and problematic vascular risk factor management.

Eur Neurol 2014 22;72(3-4):150-2. Epub 2014 Aug 22.

Department of Neurology, Regional Memory Center (CMRR), CHU Besançon, Besançon, France.

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http://dx.doi.org/10.1159/000360532DOI Listing
June 2015

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

Neurology 2014 Sep 6;83(11):1029-31. Epub 2014 Aug 6.

From CHU Nîmes (D.R., P.L.), Hôpital Caremeau; AP-HP, Service de Génétique Neuro-vasculaire (M.M., E.T.-L.), Hôpital Lariboisière, Paris; UMR-S 1161 Université Paris Diderot (M.M., E.T.-L.), Sorbonne Paris Cité, Génétique des Maladies Vasculaires, Paris; and AP-HP, Hôpital Jean Verdier (E.P., A.D., B.B.), Cytogénétique, Bondy, INSERM, Paris, Université Paris Nord, Sorbonne Paris Cité, Bobigny, France.

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http://dx.doi.org/10.1212/WNL.0000000000000769DOI Listing
September 2014

COL4A1 mutation revealed by an isolated brain hemorrhage.

Cerebrovasc Dis 2013 10;35(6):593-4. Epub 2013 Jul 10.

Services de Neurologie, Hôpital Gui de Chauliac, Montpellier, France.

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http://dx.doi.org/10.1159/000351520DOI Listing
March 2014

A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13.

Neurology 2012 Dec 21;79(23):2283-7. Epub 2012 Nov 21.

Service de Neurologie, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Oeil (CERVCO), AP-HP, Groupe Hospitalier Lariboisière-Saint-Louis, Paris, France.

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http://dx.doi.org/10.1212/WNL.0b013e3182768954DOI Listing
December 2012

COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.

Neuropediatrics 2012 Oct 29;43(5):283-8. Epub 2012 Aug 29.

Child Neurology and Psychiatry Unit, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0032-1325116
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http://dx.doi.org/10.1055/s-0032-1325116DOI Listing
October 2012

A cortical form of CADASIL with cerebral Aβ amyloidosis.

Acta Neuropathol 2010 Dec 19;120(6):813-20. Epub 2010 Oct 19.

APHP Hôpital Lariboisière, Université Paris, France.

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http://link.springer.com/10.1007/s00401-010-0758-y
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http://dx.doi.org/10.1007/s00401-010-0758-yDOI Listing
December 2010

Ophthalmological features associated with COL4A1 mutations.

Arch Ophthalmol 2010 Apr;128(4):483-9

Laboratoire de Génétique Humaine, Université Victor Segalen Bordeaux 2, Université Bordeaux 2, Bordeaux, France.

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http://dx.doi.org/10.1001/archophthalmol.2010.42DOI Listing
April 2010

Leigh's disease due to a new mutation in the PDHX gene.

Ann Neurol 2006 Apr;59(4):709-14

Service de Neuropédiatrie et Maladies métaboliques, Hôpital Robert Debré, Paris, France.

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http://dx.doi.org/10.1002/ana.20818DOI Listing
April 2006

First characterization of a large deletion of the PDHA 1 gene.

Mol Genet Metab 2005 Dec 25;86(4):456-61. Epub 2005 Oct 25.

Laboratoire de Biochimie 1, AP-HP hôpital de Bicêtre, France.

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http://dx.doi.org/10.1016/j.ymgme.2005.08.009DOI Listing
December 2005

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.

Mol Cell Biol 2005 Apr;25(8):3286-94

UMR 5535, IFR122, CNRS-UMII, Institut de Génétique Moléculaire de Montpellier, 1919 route de Mende, 34293 Montpellier, France.

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http://dx.doi.org/10.1128/MCB.25.8.3286-3294.2005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1069624PMC
April 2005

Proteomic consequences of a human mitochondrial tRNA mutation beyond the frame of mitochondrial translation.

J Biol Chem 2003 Jul 24;278(27):24314-23. Epub 2003 Apr 24.

UPR 9002, Institut de Biologie Moléculaire et Cellulaire du CNRS, 15 Rue René Descartes 67084 Strasbourg Cedex, France.

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http://dx.doi.org/10.1074/jbc.M301530200DOI Listing
July 2003

Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.

J Clin Endocrinol Metab 2003 Apr;88(4):1873-9

INSERM, U-135, Unité de Recherches Hormones Gènes et Reproduction, Hôpital de Bicêtre, Le-Kremlin-Bicêtre, 94270 Paris, France.

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http://dx.doi.org/10.1210/jc.2002-020005DOI Listing
April 2003

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.

Ann Neurol 2003 Feb;53(2):273-7

Laboratoire CERTO, CNRS UPR 1524, Faculté de Médecine Necker, Paris, France.

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http://dx.doi.org/10.1002/ana.10478DOI Listing
February 2003

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

J Biol Chem 2003 Apr 27;278(14):11768-72. Epub 2003 Jan 27.

Laboratoire Centre de Recherche Thérapeutique en Ophtalmologie, Faculté de Médecine Necker, 156 rue de Vaugirard 75015 Paris, France.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M211106200
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http://dx.doi.org/10.1074/jbc.M211106200DOI Listing
April 2003