M. Miné

发表

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

M. Audrézet, E. Tournier-Lasserve, G. Várallyay, 2014, Journal of Neurology.

Splicing Error in E1α Pyruvate Dehydrogenase mRNA Caused by Novel Intronic Mutation Responsible for Lactic Acidosis and Mental Retardation*

M. Abitbol, P. Grabowski, G. Touati, 2003, The Journal of Biological Chemistry.

Amyloid imaging by 18F-florbetaben PET in a patient with isolated microbleeds and leukoencephalopathy

S. Lehmann, M. Miné, D. Renard, 2016, Acta Neurologica Belgica.

Ophthalmological features associated with COL4A1 mutations.

I. Sibon, C. Goizet, M. Miné, 2010, Archives of ophthalmology.

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

A. Legrand, M. Miné, M. Moutard, 2005, Molecular Genetics and Metabolism.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

A. Imbard, C. Barnérias, J. Saudubray, 2011, Molecular genetics and metabolism.

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

C. Férec, I. Desguerre, Jian-Min Chen, 2007, Human mutation.

COL4A1 Mutation Revealed by an Isolated Brain Hemorrhage

N. Menjot de Champfleur, E. Tournier-Lasserve, C. Arquizan, 2013, Cerebrovascular Diseases.

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

R. Kühne, E. Milgrom, N. de Roux, 2003, The Journal of clinical endocrinology and metabolism.

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

P. Evrard, M. Schiff, M. Miné, 2006, Annals of neurology.

Contents Vol. 35, 2013

Y. K. Chen, I. C. Schaaf, W. Chu, 2013, Cerebrovascular Diseases.

Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patients

E. Tournier-Lasserve, M. Miné, 2009, Annals of neurology.

Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication

D. Campion, D. Wallon, B. Croisile, 2021, Neurology: Genetics.

Proteomic Consequences of a Human Mitochondrial tRNA Mutation beyond the Frame of Mitochondrial Translation*

Alain Van Dorsselaer, Catherine Florentz, C. Florentz, 2003, Journal of Biological Chemistry.

A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13

H. Chabriat, D. Hervé, J. Guichard, 2012, Neurology.

A cortical form of CADASIL with cerebral Aβ amyloidosis

H. Chabriat, E. Jouvent, J. Hugon, 2010, Acta Neuropathologica.

Activating NOTCH3 mutation in a patient with small‐vessel‐disease of the Brain

H. Chabriat, A. Joutel, M. Bousser, 2008, Human mutation.

The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis

M. Gabut, J. Tazi, M. Miné, 2005, Molecular and Cellular Biology.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

N. Boddaert, L. Pasquier, J. Chelly, 2018, European journal of medical genetics.

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.

N. Chuzhanova, M. Schiff, M. Miné, 2006, Molecular genetics and metabolism.

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

I. Desguerre, B. Aral, A. Slama, 2003, Annals of neurology.

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.

M. Frosch, D. Campion, D. Hannequin, 2017, Journal of Alzheimer's disease : JAD.

Late Diagnosis of COL4A1 Mutation and Problematic Vascular Risk Factor Management

E. Magnin, E. Tournier-Lasserve, P. Labauge, 2014, European Neurology.

A. Pichiecchio, S. Orcesi, D. Doherty, 2012, Neuropediatrics.

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

Marc Abitbol, P. Grabowski, G. Touati, 2003, The Journal of biological chemistry.

Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity.

A. Erginay, H. Chabriat, V. Krivosic, 2018, Ophthalmic surgery, lasers & imaging retina.

Activating NOTCH3 mutation in a patient with small‐vessel‐disease of the Brain

H. Chabriat, A. Joutel, M. Bousser, 2008, Human mutation.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

C. Barnérias, J. Saudubray, M. Miné, 2011, Molecular genetics and metabolism.