Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia

by Ichraf Kraoua, Adnane Karkar, Cyrine Drissi, Hanene Benrhouma, Hedia Klaa, Simon Samaan, Florence Renaldo, Monique Elmaleh, Mohamed Ben Hamouda, Sonia Abdelhak, Odile Boespflug‐Tanguy, Ilfghem Ben Youssef‐Turki, Imen Dorboz
Published 2019-09-01

Morning Plasma Melatonin Differences in Autism: Beyond the Impact of Pineal Gland Volume

by Anna Maruani, Anna Maruani, Guillaume Dumas, Anita Beggiato, Anita Beggiato, Nicolas Traut, Hugo Peyre, Alicia Cohen-Freoua, Frédérique Amsellem, Frédérique Amsellem, Monique Elmaleh, David Germanaud, David Germanaud, Jean-Marie Launay, Thomas Bourgeron, Roberto Toro, Richard Delorme, Richard Delorme
Published 2019-02-01

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

by Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff
Published 2016-09-01