Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 10 (of 10 Records) |
Query Trace: Emery-dreifuss Muscular Dystrophy[original query] |
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Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. Journal of human genetics 2011 Jun . Brown CA, Scharner J, Felice K, Meriggioli MN, Tarnopolsky M, Bower M, Zammit PS, Mendell JR, Ellis JA |
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity. European journal of heart failure 2012 Nov . Friedrich FW, Dilanian G, Khattar P, Juhr D, Gueneau L, Charron P, Fressart V, Vilquin JT, Isnard R, Gouya L, Richard P, Hammoudi N, Komajda M, Bonne G, Eschenhagen T, Dubourg O, Villard E, Carrier L |
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences 2015 53 (3): 270-4. Madej-Pilarczyk A, Kotruchow K, Kabzinska D, Cegielska J, Kochanski A, Hausmanowa-Petrusewicz |
Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. Neuromuscular disorders : NMD 2015 Apr 25 (4): 289-96. Weihl Conrad C, Baloh Robert H, Lee Youjin, Chou Tsui-Fen, Pittman Sara K, Lopate Glenn, Allred Peggy, Jockel-Balsarotti Jennifer, Pestronk Alan, Harms Matthew |
Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2018 5 36 (4): 207-212. Sivitskaya Larysa N, Danilenko Nina G, Vaikhanskaya Tatiyana G, Kurushka Tatsiyana V, Davydenko Oleg |
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients. Journal of medical genetics 2020 6 58 (5): 326-333. Fan Yanbin, Tan Dandan, Song Danyu, Zhang Xu, Chang Xingzhi, Wang Zhaoxia, Zhang Cheng, Chan Sophelia Hoi-Shan, Wu Qixi, Wu Liwen, Wang Shuang, Yan Hui, Ge Lin, Yang Haipo, Mao Bing, Bönnemann Carsten, Liu Jingying, Wang Suxia, Yuan Yun, Wu Xiru, Zhang Hong, Xiong H |
Novel candidate alleles associated with gene regulation for Emery-Dreifuss muscular dystrophy. EBioMedicine 2020 1 52 102620. Xiong H |
Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy. Cardiology research and practice 2021 2 2021 8812044. Marchel Micha?, Madej-Pilarczyk Agnieszka, Tymi?ska Agata, Steckiewicz Roman, Kochanowski Janusz, Wysi?ska Julia, Ostrowska Ewa, Balsam Pawe?, Grabowski Marcin, Opolski Grzego |
Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report. Frontiers in neurology 2023 5 14 1183147. Ana Karina Zambrano, Elius Paz-Cruz, Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Viviana A Ruiz-Pozo, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ricardo Hidal |
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation. Frontiers in genetics 2023 4 14 1135438. Cesar Sergi, Coll Monica, Fiol Victoria, Fernandez-Falgueras Anna, Cruzalegui Jose, Iglesias Anna, Moll Isaac, Perez-Serra Alexandra, Martínez-Barrios Estefanía, Ferrer-Costa Carles, Del Olmo Bernat, Puigmulè Marta, Alcalde Mireia, Lopez Laura, Pico Ferran, Berrueco Rubén, Brugada Josep, Zschaeck Irene, Natera-de Benito Daniel, Carrera-García Laura, Exposito-Escudero Jessica, Ortez Carlos, Nascimento Andrés, Brugada Ramon, Sarquella-Brugada Georgia, Campuzano Osc |
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- Page last updated:Apr 29, 2024
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