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

RESTORE: Once-nightly oxybate dosing preference and nocturnal experience with twice-nightly oxybates

恢复:每晚一次服用羟丁酸的偏好以及每晚两次服用羟丁酸的夜间体验

Roy, Asim; Stern, Thomas; Harsh, John; Hudson, J Douglas; Ajayi, Akinyemi O; Corser, Bruce C; Mignot, Emmanuel; Santamaria, Adrian; Morse, Anne Marie; Abaluck, Brian; Ibrahim, Sally; Schweitzer, Paula K; Lancaster, Katie; Dubow, Jordan; Gudeman, Jennifer

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

SATB2相关综合征:一项前瞻性队列研究(纳入19例患者)中骨骼特征和骨脆性的特征分析

Mouillé, M; Rio, M; Breton, S; Piketty, M L; Afenjar, A; Amiel, J; Capri, Y; Goldenberg, A; Francannet, C; Michot, C; Mignot, C; Perrin, L; Quelin, C; Van Gils, J; Barcia, G; Pingault, V; Maruani, G; Koumakis, E; Cormier-Daire, V

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

弹性假黄瘤与遗传性痉挛性截瘫 56 型重叠

A Legrand, C Pujol, C M Durand, A Mesnil, I Rubera, C Duranton, S Zuily, A B Sousa, M Renaud, J L Boucher, N Pietrancosta, S Adham, C Orssaud, C Marelli, C Casali, L Ziccardi, N Villain, C Ewenczyk, A Durr, C Mignot, G Stevanin, C Billon, M Hureaux, X Jeunemaitre, C Goizet, J Albuisson

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

X连锁、婴儿期发病的ALG13相关发育性和癫痫性脑病的表型谱

Datta, Alexandre N; Bahi-Buisson, Nadia; Bienvenu, Thierry; Buerki, Sarah E; Gardiner, Fiona; Cross, J Helen; Heron, Bénédicte; Kaminska, Anna; Korff, Christian M; Lepine, Anne; Lesca, Gaetan; McTague, Amy; Mefford, Heather C; Mignot, Cyrill; Milh, Matthieu; Piton, Amélie; Pressler, Ronit M; Ruf, Susanne; Sadleir, Lynette G; de Saint Martin, Anne; Van Gassen, Koen; Verbeek, Nienke E; Ville, Dorothée; Villeneuve, Nathalie; Zacher, Pia; Scheffer, Ingrid E; Lemke, Johannes R

GRIN2A-related disorders: genotype and functional consequence predict phenotype

GRIN2A相关疾病:基因型和功能后果预测表型

Strehlow, Vincent; Heyne, Henrike O; Vlaskamp, Danique R M; Marwick, Katie F M; Rudolf, Gabrielle; de Bellescize, Julitta; Biskup, Saskia; Brilstra, Eva H; Brouwer, Oebele F; Callenbach, Petra M C; Hentschel, Julia; Hirsch, Edouard; Kind, Peter C; Mignot, Cyril; Platzer, Konrad; Rump, Patrick; Skehel, Paul A; Wyllie, David J A; Hardingham, Giles E; van Ravenswaaij-Arts, Conny M A; Lesca, Gaetan; Lemke, Johannes R

Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1

肌强直性营养不良1型患者睡眠期间脑电图θ波功率增强

Cheung, Joseph; Ruoff, Chad; Moore, Hyatt; Hagerman, Katharine A; Perez, Jennifer; Sakamuri, Sarada; Warby, Simon C; Mignot, Emmanuel; Day, John; Sampson, Jacinda

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

一例与脱氢多萜醇二磷酸合酶 (DHDDS) 活性低相关的致死性 I 型先天性糖基化障碍 (CDG I) 病例

S Sabry, S Vuillaumier-Barrot, E Mintet, M Fasseu, V Valayannopoulos, D Héron, N Dorison, C Mignot, N Seta, I Chantret, T Dupré, S E H Moore

Sleep and EEG features in genetic models of Down syndrome

唐氏综合征遗传模型中的睡眠和脑电图特征

Colas, Damien; Valletta, Janice S; Takimoto-Kimura, Ryoko; Nishino, Seiji; Fujiki, Nobuhiro; Mobley, William C; Mignot, Emmanuel

Neuropharmacological characterization of basal forebrain cholinergic stimulated cataplexy in narcoleptic canines

嗜睡症犬基底前脑胆碱能刺激诱发猝倒的神经药理学特征

Reid, M S; Nishino, S; Tafti, M; Siegel, J M; Dement, W C; Mignot, E

Activity of medial mesopontine units during cataplexy and sleep-waking states in the narcoleptic dog

嗜睡犬猝倒发作和睡眠-觉醒状态下内侧脑桥核单元的活动

Siegel, J M; Nienhuis, R; Fahringer, H M; Chiu, C; Dement, W C; Mignot, E; Lufkin, R