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

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice

法国国家钙质沉着症诊断和治疗方案（LGMD R1/LGMD D4）：临床实践共识指南

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-026-04279-5
Severa, Gianmarco; Souvannanorath, Sarah; Tahiri, Iman; Alimi, Christophe; Slioui, Abderhmane; Villa, Luisa; Salort-Campana, Emmanuelle; Leturcq, France; Streichenberger, Nathalie; Krahn, Martin; Solé, Guilhem; Feasson, Léonard; Nadaj-Pakleza, Aleksandra; Tard, Celine; Stojkovic, Tanya; Sacconi, Sabrina; Malfatti, Edoardo
发表日期：2026
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Analysis of Exon Skipping Applicability for Dysferlinopathies

外显子跳跃在肌营养不良蛋白病中的适用性分析

期刊:Cells
影响因子:5.2
doi:10.3390/cells14030177
Leckie, Jamie; Rodriguez, Sebastian Hernandez; Krahn, Martin; Yokota, Toshifumi
发表日期：2025
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Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center

对法国某单一中心长期随访的COL6相关疾病患者进行回顾性临床和基因分析

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1242277
Morel, Victor; Audic, Frédérique; Tardy, Charlotte; Verschueren, Annie; Attarian, Shahram; Nguyen, Karine; Salort-Campana, Emmanuelle; Krahn, Martin; Chabrol, Brigitte; Gorokhova, Svetlana
COL
发表日期：2023
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

肌病相关基因临床可操作性的客观评价：63个对患者护理具有医学价值的基因

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms23158506
Vecten, Maude; Pion, Emmanuelle; Bartoli, Marc; Morales, Raul Juntas; Sternberg, Damien; Rendu, John; Stojkovic, Tanya; Bourdain, Cécile Acquaviva; Métay, Corinne; Richard, Isabelle; Cerino, Mathieu; Milh, Mathieu; Campana-Salort, Emmanuelle; Gorokhova, Svetlana; Levy, Nicolas; Latypova, Xénia; Bonne, Gisèle; Biancalana, Valérie; Petit, François; Molon, Annamaria; Perrin, Aurélien; Laforêt, Pascal; Attarian, Shahram; Krahn, Martin; Cossée, Mireille
发表日期：2022
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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

期刊:Genes
影响因子:2.8
doi:10.3390/genes13020318
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
Sequencing
发表日期：2022
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Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

CAPN3 c.598_612del15 的常染色体显性遗传与轻度钙蛋白酶病相关。

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.51193
Cerino, Mathieu; Bartoli, Marc; Riccardi, Florence; Le Goanvic, Brigitte; Blanck, Véronique; Salvi, Alexandra; Lévy, Nicolas; Krahn, Martin; Choumert, Ariane
发表日期：2020
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Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy

GLE1相关疾病的表型谱扩展至类似先天性肌病的轻度先天性形式

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.1277
Cerino, Mathieu; Di Meglio, Chloé; Albertini, Francesca; Audic, Frédérique; Riccardi, Florence; Boulay, Christophe; Philip, Nicole; Bartoli, Marc; Lévy, Nicolas; Krahn, Martin; Chabrol, Brigitte
发表日期：2020
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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

法国就利用新一代测序技术诊断肌病的基因列表达成全国共识

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-018-0305-1
Krahn, Martin; Biancalana, Valérie; Cerino, Mathieu; Perrin, Aurélien; Michel-Calemard, Laurence; Nectoux, Juliette; Leturcq, France; Bouchet-Séraphin, Céline; Acquaviva-Bourdain, Cécile; Campana-Salort, Emmanuelle; Molon, Annamaria; Urtizberea, Jon Andoni; Audic, Frédérique; Chabrol, Brigitte; Pouget, Jean; Froissart, Roseline; Melki, Judith; Rendu, John; Petit, François; Métay, Corinne; Seta, Nathalie; Sternberg, Damien; Fauré, Julien; Cossée, Mireille
Sequencing
发表日期：2019
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Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

纠正由新型内含子 dysferlin 突变引起的假外显子剪接

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.738
Dominov Janice A, Uyan Özgün, McKenna-Yasek Diane, Nallamilli Babi Ramesh Reddy, Kergourlay Virginie, Bartoli Marc, Levy Nicolas, Hudson Judith, Evangelista Teresinha, Lochmuller Hanns, Krahn Martin, Rufibach Laura, Hegde Madhuri, Brown Robert H Jr
发表日期：2019
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VarAFT: a variant annotation and filtration system for human next generation sequencing data

VarAFT：一种用于人类二代测序数据的变异注释和过滤系统

期刊:Nucleic Acids Research
影响因子:13.1
doi:10.1093/nar/gky471
Desvignes, Jean-Pierre; Bartoli, Marc; Delague, Valérie; Krahn, Martin; Miltgen, Morgane; Béroud, Christophe; Salgado, David
发表日期：2018
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