Ejection Fraction Basal Strain Ratio: A New Composite Echocardiographic Deformation Parameter Allowing Differentiation of Cardiac Amyloidosis From Hypertrophic Cardiomyopathies.

Autor: Martel H; Department of Cardiology, AP-HM, La Timone Hospital, Marseille, France., Rique A; Department of Cardiology, AP-HM, La Timone Hospital, Marseille, France., Piazzai C; Department of Cardiology, AP-HM, La Timone Hospital, Marseille, France., Mancini J; Aix-Marseille University, INSERM, IRD, SESSTIM, ISSPAM, Public Health Department, AP-HM, La Timone Hospital, Marseille, France., Dumonceau RG; Aix-Marseille University, INSERM, IRD, SESSTIM, ISSPAM, Public Health Department, AP-HM, La Timone Hospital, Marseille, France., Arregle F; Department of Cardiology, AP-HM, La Timone Hospital, Marseille, France., Dernys A; Department of Cardiology, AP-HM, La Timone Hospital, Marseille, France., Gardenat A; Department of Cardiology, AP-HM, La Timone Hospital, Marseille, France., Casalta AC; Department of Cardiology, AP-HM, La Timone Hospital, Marseille, France., Renard S; Department of Cardiology, AP-HM, La Timone Hospital, Marseille, France., Hubert S; Department of Cardiology, AP-HM, La Timone Hospital, Marseille, France., N'Guyen K; Department of Medical Genetics, AP-HM, La Timone Hospital, Marseille, France., Habib G; Department of Cardiology, AP-HM, La Timone Hospital, Marseille, France. Electronic address: gilbert.habib3@gmail.com.

Publikováno v: Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography [J Am Soc Echocardiogr] 2023 May; Vol. 36 (5), pp. 555-557. Date of Electronic Publication: 2023 Jan 04.

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

Autor: Bannwarth S; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Ait-El-Mkadem S; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Chaussenot A; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Genin EC; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., Lacas-Gervais S; 3 Joint Centre for Applied Electron Microscopy, Nice Sophia-Antipolis University, France., Fragaki K; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Berg-Alonso L; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., Kageyama Y; 4 Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Serre V; 5 UMR7592 CNRS, Jacques Monod Institute, Paris Diderot University, France., Moore D; 6 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Verschueren A; 7 Department of Neurology, Timone Hospital, Marseille Teaching Hospital, France., Rouzier C; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Le Ber I; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, CNRS UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France 9 National Reference Centre on Rare Dementias, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Augé G; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Cochaud C; 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Lespinasse F; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., N'Guyen K; 10 Department of Medical Genetics, Timone Hospital, Marseille Teaching Hospital, France., de Septenville A; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, CNRS UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France., Brice A; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, CNRS UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France., Yu-Wai-Man P; 6 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK 11 Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK., Sesaki H; 4 Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Pouget J; 7 Department of Neurology, Timone Hospital, Marseille Teaching Hospital, France., Paquis-Flucklinger V; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France paquis@hermes.unice.fr.

Publikováno v: Brain : a journal of neurology [Brain] 2016 Apr; Vol. 139 (Pt 4), pp. e22. Date of Electronic Publication: 2015 Dec 30.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Autor: Pilliod J; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Moutton S; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France., Lavie J; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Maurat E; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Hubert C; Functional Genomics Center, University of Bordeaux, Bordeaux, France., Bellance N; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Anheim M; Neurology Service, Strasbourg University Hospitals, Strasbourg, France.; Molecular Cell Biology Genetics Institute, INSERM U964/CNRS UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch-Graffenstaden, France., Forlani S; Genetics Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France., Mochel F; Genetics Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.; Brain and Spinal Cord Institute, INSERM U1127, CNRS UMR7225, Sorbonne Universities-Pierre and Marie Curie University, Paris, France., N'Guyen K; Department of Medical Genetics, Timone Hospital, Marseille, France., Thauvin-Robinet C; Genetics Center, Dijon University Hospital Center, Dijon, France., Verny C; Nantes Angers le Mans University and Neurology Service, CNRS UMR6214, INSERM U1083, University Hospital Center, Angers, France., Milea D; Ophthalmology Service, Angers University Hospital Center, Angers, France and Singapore National Eye Centre, Singapore Eye Research Institute, Duke-National University of Singapore, Singapore., Lesca G; Genetics Service, Lyon University Hospital Center, Lyon, France., Koenig M; Molecular Genetics Laboratory, INSERM U827, Montpellier Regional University Hospital Center, Montpellier, France., Rodriguez D; Rare Diseases Reference Center 'Defects and Congenital Diseases of the Cerebellum,' Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.; Robert Debré Hospital, INSERM U1141, Paris, France.; Genetics Service, Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France., Houcinat N; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France., Van-Gils J; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France., Durand CM; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Guichet A; Neuropediatrics Service, Armand Trousseau Hospital, Public Hospital Network of Paris, Sorbonne Universities-Pierre and Marie Curie University, Paris, France., Barth M; Neuropediatrics Service, Armand Trousseau Hospital, Public Hospital Network of Paris, Sorbonne Universities-Pierre and Marie Curie University, Paris, France., Bonneau D; Neuropediatrics Service, Armand Trousseau Hospital, Public Hospital Network of Paris, Sorbonne Universities-Pierre and Marie Curie University, Paris, France., Convers P; Nantes Angers le Mans University and Department of Biochemistry and Genetics, University Hospital Center, Angers, France., Maillart E; Clinical Neurophysiology Service, Saint-Étienne University Hospital Center, Saint-Étienne, France., Guyant-Marechal L; Neurology Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France., Hannequin D; Neurology Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France., Fromager G; Clinical Genetics Unit, Rouen University Hospital Center, Rouen, France., Afenjar A; Rare Diseases Reference Center 'Defects and Congenital Diseases of the Cerebellum,' Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.; Neurologist, Caen, France., Chantot-Bastaraud S; Rare Diseases Reference Center 'Defects and Congenital Diseases of the Cerebellum,' Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.; Neurologist, Caen, France., Valence S; Rare Diseases Reference Center 'Defects and Congenital Diseases of the Cerebellum,' Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.; Genetics Service, Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France., Charles P; Genetics Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France., Berquin P; Amiens University Hospital Center, Pediatric Neurology Activity Center, Amiens, France., Rooryck C; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France., Bouron J; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France., Brice A; Genetics Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.; Brain and Spinal Cord Institute, INSERM U1127, CNRS UMR7225, Sorbonne Universities-Pierre and Marie Curie University, Paris, France., Lacombe D; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France., Rossignol R; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Stevanin G; Genetics Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.; Brain and Spinal Cord Institute, INSERM U1127, CNRS UMR7225, Sorbonne Universities-Pierre and Marie Curie University, Paris, France.; Laboratory of Neurogenetics, Practical School of Higher Studies, Paris, France., Benard G; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Burglen L; Rare Diseases Reference Center 'Defects and Congenital Diseases of the Cerebellum,' Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.; Robert Debré Hospital, INSERM U1141, Paris, France.; Neurologist, Caen, France., Durr A; Genetics Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.; Brain and Spinal Cord Institute, INSERM U1127, CNRS UMR7225, Sorbonne Universities-Pierre and Marie Curie University, Paris, France., Goizet C; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France., Coupry I; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.

Publikováno v: Annals of neurology [Ann Neurol] 2015 Dec; Vol. 78 (6), pp. 871-86. Date of Electronic Publication: 2015 Nov 14.

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

Autor: Bannwarth S; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Ait-El-Mkadem S; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Chaussenot A; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Genin EC; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., Lacas-Gervais S; 3 Joint Centre for Applied Electron Microscopy, Nice Sophia-Antipolis University, France., Fragaki K; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Berg-Alonso L; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., Kageyama Y; 4 Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Serre V; 5 UMR7592 CNRS, Jacques Monod Institute, Paris Diderot University, France., Moore D; 6 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Verschueren A; 7 Department of Neurology, Timone Hospital, Marseille Teaching Hospital, France., Rouzier C; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Le Ber I; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France 9 National Reference Centre on Rare Dementias, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Augé G; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Cochaud C; 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Lespinasse F; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., N'Guyen K; 10 Department of Medical Genetics, Timone Hospital, Marseille Teaching Hospital, France., de Septenville A; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France., Brice A; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France., Yu-Wai-Man P; 6 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK 11 Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK., Sesaki H; 4 Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Pouget J; 7 Department of Neurology, Timone Hospital, Marseille Teaching Hospital, France., Paquis-Flucklinger V; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France paquis@hermes.unice.fr.

Publikováno v: Brain : a journal of neurology [Brain] 2015 Sep; Vol. 138 (Pt 9), pp. e377. Date of Electronic Publication: 2015 Feb 12.

Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice.

Autor: Renaud M; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67098, Strasbourg Cedex, France., Perriard J, Coudray S, Sévin-Allouet M, Marcel C, Meissner WG, Chanson JB, Collongues N, Philippi N, Gebus O, Quenardelle V, Castrioto A, Krack P, N'Guyen K, Lefebvre F, Echaniz-Laguna A, Azulay JP, Meyer N, Labauge P, Tranchant C, Anheim M

Publikováno v: Journal of neurology [J Neurol] 2015 Feb; Vol. 262 (2), pp. 435-42. Date of Electronic Publication: 2014 Dec 02.