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

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease

DARS2基因双等位基因变异是轴突型夏科-马里-图斯病的新病因

Berta Estévez-Arias # ,Siiri Sarv # ,Nathalie Bonello-Palot ,Laura Carrera-García ,Carlos Ortez ,Jesica Expósito-Escudero ,Delia Yubero ,Jordi Muchart ,Emilien Delmont ,Eve Õiglane-Shlik ,Teele Meren ,Sanna Puusepp ,Ülle Murumets ,Gajja S Salomons ,Bjarne Udd ,Liis Väli ,Lara Cantarero ,Carsten G Bönnemann ,Andrés Nascimento ,Santiago Ramón-Maiques ,Katrin Õunap ,Janet Hoenicka # ,Daniel Natera-de Benito # ,Francesc Palau #

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study

X连锁夏科-马里-图斯病表型-基因型相关性:一项法国队列研究

Barbat du Closel, Luce; Bonello-Palot, Nathalie; Delmont, Emilien; Péréon, Yann; Echaniz-Laguna, Andoni; Camdessanché, Jean Philippe; Pakleza, Aleksandra Nadaj; Chanson, Jean-Baptiste; Frachet, Simon; Magy, Laurent; Cassereau, Julien; Cintas, Pascal; Choumert, Ariane; Devic, Perrine; Louis, Sarah Léonard; Tard, Céline; Solé, Guilhem; Salort-Campana, Emmanuelle; Bouhour, Françoise; Latour, Philippe; Stojkovic, Tanya; Attarian, Shahram

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy

全国范围内对103例SH3TC2基因相关脱髓鞘性周围神经病患者进行表型和基因型特征分析

Jaubert, Pauline; Loret, Camille; Stojkovic, Tanya; Attarian, Shahram; Bonello-Palot, Nathalie; Bouhour, Françoise; Camdessanche, Jean-Philippe; Cassereau, Julien; Chanson, Jean-Baptiste; Cintas, Pascal; Creange, Alain; Esselin, Florence; Genestet, Steeve; Giordano, Sophie; Gitiaux, Cyril; Guillaud-Bataille, Marine; Isapof, Arnaud; Kumaran, Deiva; Labeyrie, Céline; Laugel, Vincent; Leonard-Louis, Sarah; Lozeron, Pierre; Magy, Laurent; Mercier, Sandra; Merle, Philippe; Michaud, Maud; Nicolas, Guillaume; Ollagnon, Elisabeth; Pereon, Yann; Puma, Angela; Poinsignon, Vianney; Roy, Susana Quijano; Sole, Guilhem; Tard, Céline; Vidoni, Léo; Lia, Anne-Sophie; Echaniz-Laguna, Andoni

A novel red blood cell deformability biomarker is associated with hemolysis and vaso-occlusive crises in sickle cell disease

一种新型红细胞变形能力生物标志物与镰状细胞病中的溶血和血管阻塞危象相关

Sahun, Maxime; Bernit, Emmanuelle; Atwell, Scott; Hornung, Alexander; Charrier, Anne M; Agouti, Imane; Bonello-Palot, Nathalie; Cerino, Mathieu; Helfer, Emmanuèle; Badens, Catherine; Viallat, Annie

A new unstable haemoglobin, Hb Alger, causes a transfusion-dependent anaemia in early childhood

一种新的不稳定血红蛋白,Hb Alger,会导致幼儿期出现输血依赖性贫血。

Bouazizi, Syrine; Cerino, Mathieu; Lim, Suzy; Desgrouas, Camille; Badens, Catherine; Szepetowski, Sarah; Bonello-Palot, Nathalie

Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes

夏科-马里-图斯病中的双基因突变:MFN2 和 GDAP1 基因联合突变的影响

Shumeri, Endrit; Mandorah, Ebrahem; Martini, Nathalie; Boyer, Amandine; Halbert, Cécile; Puma, Angela; Chaussenot, Annabelle; Delmont, Emilien; N'guyen, Karine; Attarian, Shahram; Bonello-Palot, Nathalie

Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)

遗传性感觉和自主神经病1型(HSAN1)患者中新的SPTLC1错义变异的功能和分子特征

Rochat, Julie; Blavier, André; Ruet, Séverine; Vasseur, Sophie; Puma, Angela; Desnous, Béatrice; Chan, Victor; Delmont, Emilien; Attarian, Shahram; Juntas Morales, Raul; Quadrio, Isabelle; Vidoni, Léo; Bonello-Palot, Nathalie; Cheillan, David

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

先天性痛觉缺失和遗传性感觉及自主神经病变的遗传图谱

Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Laššuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Šoukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sánchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques, Wilson Junior; Mercier, Sandra; Procaccio, Vincent; Bris, Céline; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J; Müller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgül, Behiye S; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Jörg B; Wood, John N; Cox, James J; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C; Shy, Michael; Bennett, David L; Baets, Jonathan; Hübner, Christian A; Leipold, Enrico; Züchner, Stephan; Elbracht, Miriam; Çakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C Geoffrey; Reilly, Mary M; Kurth, Ingo

A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing

利用新一代测序技术诊断夏科-马里-图斯病及相关疾病的基因列表:法国国家共识

Benquey, Thibaut; Pion, Emmanuelle; Cossée, Mireille; Krahn, Martin; Stojkovic, Tanya; Perrin, Aurélien; Cerino, Mathieu; Molon, Annamaria; Lia, Anne-Sophie; Magdelaine, Corinne; Francou, Bruno; Guiochon-Mantel, Anne; Malinge, Marie-Claire; Leguern, Eric; Lévy, Nicolas; Attarian, Shahram; Latour, Philippe; Bonello-Palot, Nathalie

HINT1 neuropathy: Expanding the genotype and phenotype spectrum

HINT1神经病变:扩展基因型和表型谱

Morel, Victor; Campana-Salort, Emmanuelle; Boyer, Amandine; Esselin, Florence; Walther-Louvier, Ulrike; Querin, Giorgia; Latour, Philippe; Lia, Anne-Sophie; Magdelaine, Corinne; Beze-Beyrie, Pierre; Behin, Anthony; Delague, Valérie; Levy, Nicolas; Stojkovic, Tanya; Attarian, Shahram; Bonello-Palot, Nathalie