日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

CAG repeat mosaicism is gene specific in spinocerebellar ataxias

CAG重复序列嵌合现象在脊髓小脑性共济失调中具有基因特异性。

Radhia Kacher ,François-Xavier Lejeune ,Isabelle David ,Susana Boluda ,Giulia Coarelli ,Sabrina Leclere-Turbant ,Anna Heinzmann ,Cecilia Marelli ,Perrine Charles ,Cyril Goizet ,Nisha Kabir ,Rania Hilab ,Ludmila Jornea ,Julie Six ,Marc Dommergues ,Anne-Laure Fauret ,Alexis Brice ,Sandrine Humbert ,Alexandra Durr

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

TMEM63C 突变导致线粒体形态缺陷,是遗传性痉挛性截瘫的病因。

Luis Carlos Tábara,Fatema Al-Salmi,Reza Maroofian,Amna Mohammed Al-Futaisi,Fathiya Al-Murshedi,Joanna Kennedy,Jacob O Day,Thomas Courtin,Aisha Al-Khayat,Hamid Galedari,Neda Mazaheri,Margherita Protasoni,Mark Johnson,Joseph S Leslie,Claire G Salter,Lettie E Rawlins,James Fasham,Almundher Al-Maawali,Nikol Voutsina,Perrine Charles,Laura Harrold,Boris Keren,Edmund R S Kunji,Barbara Vona,Gholamreza Jelodar,Alireza Sedaghat,Gholamreza Shariati,Henry Houlden,Andrew H Crosby,Julien Prudent,Emma L Baple    0

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

采用综合方法解释 DYRK1A 变异,导致常见的神经发育障碍

Jérémie Courraud, Eric Chater-Diehl, Benjamin Durand, Marie Vincent, Maria Del Mar Muniz Moreno, Imene Boujelbene, Nathalie Drouot, Loréline Genschik, Elise Schaefer, Mathilde Nizon, Bénédicte Gerard, Marc Abramowicz, Benjamin Cogné, Lucas Bronicki, Lydie Burglen, Magalie Barth, Perrine Charles, Est

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

致病性DDX3X突变会损害胎儿皮层发育过程中的RNA代谢和神经发生

Ashley L Lennox ,Mariah L Hoye ,Ruiji Jiang ,Bethany L Johnson-Kerner ,Lindsey A Suit ,Srivats Venkataramanan ,Charles J Sheehan ,Fernando C Alsina ,Brieana Fregeau ,Kimberly A Aldinger ,Ching Moey ,Iryna Lobach ,Alexandra Afenjar ,Dusica Babovic-Vuksanovic ,Stéphane Bézieau ,Patrick R Blackburn ,Jens Bunt ,Lydie Burglen ,Philippe M Campeau ,Perrine Charles ,Brian H Y Chung ,Benjamin Cogné ,Cynthia Curry ,Maria Daniela D'Agostino ,Nataliya Di Donato ,Laurence Faivre ,Delphine Héron ,A Micheil Innes ,Bertrand Isidor ,Boris Keren ,Amy Kimball ,Eric W Klee ,Paul Kuentz ,Sébastien Küry ,Dominique Martin-Coignard ,Ghayda Mirzaa ,Cyril Mignot ,Noriko Miyake ,Naomichi Matsumoto ,Atsushi Fujita ,Caroline Nava ,Mathilde Nizon ,Diana Rodriguez ,Lot Snijders Blok ,Christel Thauvin-Robinet ,Julien Thevenon ,Marie Vincent ,Alban Ziegler ,William Dobyns ,Linda J Richards ,A James Barkovich ,Stephen N Floor ,Debra L Silver ,Elliott H Sherr

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Lamb-Shaffer 综合征是一种因 SOX5 单倍体不足导致的神经发育障碍,其遗传和临床谱不断扩大

Ash Zawerton #, Cyril Mignot #, Ashley Sigafoos #, Patrick R Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabelle Marey, Anne-Claude Tabet, Jonathan Levy, Laurence Perrin, Andreas Hartmann, Gaetan Lesca, Caroline Schluth-Bolard, Pauline Moni

Mitochondrial dysfunction caused by novel ATAD3A mutations

新的 ATAD3A 突变导致的线粒体功能障碍

Nathalie Dorison, Pauline Gaignard, Aurélien Bayot, Antoinette Gelot, Pierre Hadrien Becker, Salma Fourati, Elise Lebigot, Perrine Charles, Timothy Wai, Patrice Therond, Abdelhamid Slama

Phenotypic and Imaging Spectrum Associated With WDR45

与WDR45相关的表型和成像谱

Adang, Laura A; Pizzino, Amy; Malhotra, Alka; Dubbs, Holly; Williams, Catherine; Sherbini, Omar; Anttonen, Anna-Kaisa; Lesca, Gaetan; Linnankivi, Tarja; Laurencin, Chloé; Milh, Matthieu; Perrine, Charles; Schaaf, Christian P; Poulat, Anne-Lise; Ville, Dorothee; Hagelstrom, Tanner; Perry, Denise L; Taft, Ryan J; Goldstein, Amy; Vossough, Arastoo; Helbig, Ingo; Vanderver, Adeline

International Guidelines for the Treatment of Huntington's Disease

亨廷顿病治疗国际指南

Bachoud-Lévi, Anne-Catherine; Ferreira, Joaquim; Massart, Renaud; Youssov, Katia; Rosser, Anne; Busse, Monica; Craufurd, David; Reilmann, Ralf; De Michele, Giuseppe; Rae, Daniela; Squitieri, Ferdinando; Seppi, Klaus; Perrine, Charles; Scherer-Gagou, Clarisse; Audrey, Olivier; Verny, Christophe; Burgunder, Jean-Marc

Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse

编码突触蛋白的 Dmxl2 单倍体不足会导致小鼠 GnRH 神经元丢失导致不育

Brooke Tata, Lukas Huijbregts, Sandrine Jacquier, Zsolt Csaba, Emmanuelle Genin, Vincent Meyer, Sofia Leka, Joelle Dupont, Perrine Charles, Didier Chevenne, Jean-Claude Carel, Juliane Léger, Nicolas de Roux

Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression

亨廷顿病的早期能量缺陷:识别疾病进展过程中可追踪的血浆生物标志物

Fanny Mochel, Perrine Charles, François Seguin, Julie Barritault, Christiane Coussieu, Laurence Perin, Yves Le Bouc, Christiane Gervais, Guislaine Carcelain, Anne Vassault, Josué Feingold, Daniel Rabier, Alexandra Durr