Denis Furling - Publications, H-index & Citations

Denis Furling

sorbonne universite and inserm and institut de myologie

46H指数

175论文数

6.2K被引数

收录论文 59

发表时间

Toward the clinical application of long-read sequencing in repeat-expansion disorders 长读测序在重复序列扩增疾病中的临床应用展望

Nature Genetics

IF29

2026-08-20

PREAI

Louise Benarroch; Jovan Pešović; Marzia Rossato; Zhongbo Chen; Morghan C. Lucas; Guillaume Cogan; Indhu-Shree Rajan-Babu; Vitus Prokosch; Christina Zarouchlioti; Marco Carlomagno; Ida Höijer; Mayra Sauer; Ismail Jamail; Shota Shibata; Glen Lester Sequiera; Benjamin P. Kleinstiver; Sonia Lameiras; Ricardo Mouro Pinto; Giuseppe Novelli; Davina Hensman Moss; Natalia Dominik; Mathieu Barbier; Isabelle Le Ber; Guillaume Bassez; Denis Furling; Massimo Delledonne; Karen Usdin; Sylvain Baulande; Geneviève Gourdon; Birgitt Schüle; Dušanka Savić-Pavićević; Annalisa Botta; Alice E. Davidson; Adam Ameur; Vincent Dion; Stéphanie Tomé

MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1 MBNL耗竭驱动肌萎缩侧索硬化症1型中的干细胞融合和不成熟肌核状态

Nature Communications

IF15.7

2026-08-06

OAAI

Vanessa Todorow; Xavière Lornage; Shinichiro Hayashi; Fiorella Carla Grandi; Zoé Clerc; Jeanne Lainé; Michel Ney; Mégane Lemaitre; Corentin Rouxel; Maria Kondili; Piera Smeriglio; Hanseul Oh; Mie Kato; Nobuyuki Eura; Yoshihiko Saito; Francia Victoria A. De Los Reyes; Satoru Noguchi; Benedikt Schoser; Denis Furling; Ichizo Nishino; Peter Meinke; Frédérique Rau

Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1

JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE

IF9.1

2025-12-01

OAAI

Hermitte, Caroline; De Calbiac, Hortense; Moulay, Gilles; Merien, Antoine; Laine, Jeanne; Polveche, Helene; Cailleret, Michel; Vassilopoulos, Stephane; Kabashi, Edor; Furling, Denis; Martinat, Cecile; Gazzola, Morgan

Small nucleolar RNAs promote the restoration of muscle differentiation defects in cells from myotonic dystrophy type 1 小核仁RNA促进强直性肌营养不良1型患者细胞中肌肉分化缺陷的恢复

NUCLEIC ACIDS RESEARCH

IF13.1

2025-03-29

OAAI

Bogard, Baptiste; Bonnet, Helene; Boyarchuk, Ekaterina; Tellier, Gilles; Furling, Denis; Mouly, Vincent; Francastel, Claire; Hube, Florent

MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination 运动神经元中MBNL缺乏会破坏神经肌肉接头的维持和步态协调。

BRAIN

IF11.7

2024-10-26

OAAI

Frison-Roche, Charles; Demier, Celia Martin; Cottin, Steve; Laine, Jeanne; Arandel, Ludovic; Halliez, Marius; Lemaitre, Megane; Lornage, Xaviere; Strochlic, Laure; Swanson, Maurice S.; Martinat, Cecile; Messeant, Julien; Furling, Denis; Rau, Frederique

Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells

MOLECULAR THERAPY NUCLEIC ACIDS

IF6.1

2023-06-01

OAAI

Porquet, Florent; Weidong, Lin; Jehasse, Kevin; Gazon, Helene; Kondili, Maria; Blacher, Silvia; Massotte, Laurent; Di Valentin, Emmannuel; Furling, Denis; Gillet, Nicolas Albert; Klein, Arnaud Francois; Seutin, Vincent; Willems, Luc

PGN-EDODM1: Preclinical Data Supporting the Development of an Enhanced Delivery Oligonucleotide (EDO) for the Treatment of Myotonic Dystrophy Type 1 (DM1)

NEUROLOGY

IF8.5

2023-04-25

PREAI

Holland, Ashling; Klein, Arnaud; Godfrey, Caroline; Svenstrup, Niels; Larkindale, Jane; Bracegirdle, Sonia; Furling, Denis; Goyal, Jaya

MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

IF3.4

2023-01-17

OAAI

Tahraoui-Bories, Julie; Merien, Antoine; Gonzalez-Barriga, Anchel; Laine, Jeanne; Leteur, Celine; Polveche, Helene; Carteron, Alexandre; De Lamotte, Juliette Duchesne; Nicoleau, Camille; Polentes, Jerome; Jarrige, Margot; Gomes-Pereira, Mario; Ventre, Erwann; Poydenot, Pauline; Furling, Denis; Schaeffer, Laurent; Legay, Claire; Martinat, Cecile

Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2022-11-01

OAAI

Tsai, Yu-Chih; de Pontual, Laure; Heiner, Cheryl; Stojkovic, Tanya; Furling, Denis; Bassez, Guillaume; Gourdon, Genevieve; Tome, Stephanie

Reversal of RNA toxicity in myotonic dystrophy via a decoy RNA-binding protein with high affinity for expanded CUG repeats

NATURE BIOMEDICAL ENGINEERING

IF26.6

2022-02-10

OAAI

Arandel, Ludovic; Matloka, Magdalena; Klein, Arnaud F.; Rau, Frederique; Sureau, Alain; Ney, Michel; Cordier, Aurelien; Kondili, Maria; Polay-Espinoza, Micaela; Naouar, Naira; Ferry, Arnaud; Lemaitre, Megane; Begard, Severine; Colin, Morvane; Lamarre, Chloe; Tran, Helene; Buee, Luc; Marie, Joelle; Sergeant, Nicolas; Furling, Denis

Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes

MOLECULAR THERAPY

IF12

2022-01-01

OAAI

Dastidar, Sumitava; Majumdar, Debanjana; Tipanee, Jaitip; Singh, Kshitiz; Klein, Arnaud F.; Furling, Denis; Chuah, Marinee K.; VandenDriessche, Thierry

CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis 多能干细胞中的CRISPR基因编辑揭示了人体外肌生成过程中MBNL蛋白的功能

HUMAN MOLECULAR GENETICS

IF3.2

2021-07-26

OAAI

Merien, Antoine; Tahraoui-Bories, Julie; Cailleret, Michel; Dupont, Jean-Baptiste; Leteur, Celine; Polentes, Jerome; Carteron, Alexandre; Polveche, Helene; Concordet, Jean-Paul; Pinset, Christian; Jarrige, Margot; Furling, Denis; Martinat, Cecile

Cas9 targeting of toxic foci of RNA repeats

NATURE BIOMEDICAL ENGINEERING

IF26.6

2021-02-12

OAAI

Furling, Denis

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

NEUROLOGY-GENETICS

IF3.7

2020-12-01

OAAI

Bauche, Stephanie; Sureau, Alain; Sternberg, Damien; Rendu, John; Buon, Celine; Messeant, Julien; Boex, Myriam; Furling, Denis; Faure, Julien; Latypova, Xenia; Gelot, Antoinette Bernabe; Mayer, Michele; Mary, Pierre; Whalen, Sandra; Fournier, Emmanuel; Cloix, Isabelle; Remerand, Ganaelle; Laffargue, Fanny; Nougues, Marie-Christine; Fontaine, Bertrand; Eymard, Bruno; Isapof, Arnaud; Strochlic, Laure

Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques

JOURNAL OF CELL BIOLOGY

IF6.4

2020-07-08

OAAI

Moulay, Gilles; Laine, Jeanne; Lemaitre, Megane; Nakamori, Masayuki; Nishino, Ichizo; Caillol, Ghislaine; Mamchaoui, Kamel; Julien, Laura; Dingli, Florent; Loew, Damarys; Bitoun, Marc; Leterrier, Christophe; Furling, Denis; Vassilopoulos, Stephane

Cardiovascular manifestations of myotonic dystrophy

TRENDS IN CARDIOVASCULAR MEDICINE

IF9

2020-05-01

OAAI

Wahbi, Karim; Furling, Denis

miR-7 Restores Phenotypes in Myotonic Dystrophy Muscle Cells by Repressing Hyperactivated Autophagy

MOLECULAR THERAPY-NUCLEIC ACIDS

IF0

2020-03-01

OAAI

Sabater-Arcis, Maria; Bargiela, Ariadna; Furling, Denis; Artero, Ruben

Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient- derived cells and mice

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2019-09-30

OAAI

Klein, Arnaud F.; Varela, Miguel A.; Arandel, Ludovic; Holland, Ashling; Naouar, Naira; Arzumanov, Andrey; Seoane, David; Revillod, Lucile; Bassez, Guillaume; Ferry, Arnaud; Jauvin, Dominic; Gourdon, Genevieve; Puymirat, Jack; Gait, Michael J.; Furling, Denis; Wood, Matthew J. A.

Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice

MOLECULAR THERAPY

IF12

2019-08-01

OAAI

Lo Scrudato, Mirella; Poulard, Karine; Sourd, Celia; Tome, Stephanie; Klein, Arnaud F.; Corre, Guillaume; Huguet, Aline; Furling, Denis; Gourdon, Genevieve; Buj-Bello, Ana

Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts

CELL DEATH & DISEASE

IF9.6

2018-10-19

OAAI

Rizzo, Milena; Beffy, Pascale; Del Carratore, Renata; Falleni, Alessandra; Pretini, Virginia; D'Aurizio, Romina; Botta, Annalisa; Evangelista, Monica; Stoccoro, Andrea; Coppede, Fabio; Furling, Denis; Simili, Marcella

研究方向