Search Results - "Emery–Dreifuss" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

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Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report

by Zambrano, Ana Karina, Paz-Cruz, Elius, Cadena-Ullauri, Santiago, Guevara-Ramírez, Patricia, Ruiz-Pozo, Viviana A., Tamayo-Trujillo, Rafael, Ibarra-Castillo, Rita, Laso-Bayas, José Luis, Doménech, Nieves, Ibarra-Rodríguez, Adriana Alexandra, Hidalgo, Ricardo
Published in Frontiers in neurology (12.05.2023)

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A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

by Chen, Zuzhi, Ren, Zhixia, Mei, Wenli, Ma, Qiankun, Shi, Yingying, Zhang, Yuanxing, Li, Shujian, Xiang, Li, Zhang, Jiewen
Published in BMC medical genetics (05.06.2017)

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Increased dispersion of ventricular repolarization in emery dreifuss muscular dystrophy patients

by Russo, Vincenzo, Rago, Anna, Politano, Luisa, Papa, Andrea Antonio, Di Meo, Federica, Russo, Maria Giovanna, Golino, Paolo, Calabrò, Raffaele, Nigro, Gerardo
Published in Medical science monitor (01.11.2012)

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P-Wave Duration and Dispersion in Patients With Emery-Dreifuss Muscular Dystrophy

by Russo, Vincenzo, Rago, Anna, Palladino, Alberto, Papa, Andrea Antonio, Di Meo, Federica, Della Cioppa, Nadia, Golino, Paolo, Russo, Maria Giovanna, Calabrò, Raffaele, Politano, Luisa, Nigro, Gerardo
Published in Journal of investigative medicine (01.10.2011)

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Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy

by Niebroj-Dobosz, Irena, Sokołowska, Beata, Madej-Pilarczyk, Agnieszka, Marchel, Michał, Hausmanowa-Petrusewicz, Irena
Published in Folia neuropathologica (01.01.2017)

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Heart to Heart: From Nuclear Proteins to Emery-Dreifuss Muscular Dystrophy

by Morris, Glenn E., Manilal, Sushila
Published in Human molecular genetics (01.01.1999)

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Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations

by Carboni, Nicola, Mura, Marco, Marrosu, Giovanni, Cocco, Eleonora, Marini, Stefano, Solla, Elisabetta, Mateddu, Anna, Maioli, Maria Antonietta, Piras, Rachele, Mallarini, Giorgio, Mercuro, Giuseppe, Porcu, Maurizio, Marrosu, Maria Giovanna
Published in Muscle & nerve (01.04.2010)

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The laminopathies: a clinical review

by Rankin, J, Ellard, S
Published in Clinical genetics (01.10.2006)

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Echocardiographic assessment of left ventricular morphology and function in patients with Emery–Dreifuss muscular dystrophy

by Draminska, A., Kuch-Wocial, A., Szulc, M., Zwolinska, A., Styczynski, G., Kostrubiec, M., Hausmanowa-Petrusewicz, I., Pruszczyk, P.
Published in International journal of cardiology (10.07.2005)

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Human laminopathies: nuclei gone genetically awry

by Capell, Brian C., Collins, Francis S.
Published in Nature reviews. Genetics (01.12.2006)

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A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant

by Patni, Nivedita, Hatab, Sarah, Xing, Chao, Zhou, Zhengyang, Quittner, Claudia, Garg, Abhimanyu
Published in Journal of medical genetics (01.06.2020)

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Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function

Year of Publication 2021

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Increased resting energy expenditure in subjects with Emery-Dreifuss muscular dystrophy

by Vaisman, N, Katzenellenbogen, S, Nevo, Y
Published in Neuromuscular disorders : NMD (01.02.2004)

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

by Muchir, A.
Published in Human molecular genetics (22.05.2000)

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Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery–Dreifuss muscular dystrophy patients and carriers

by Sabatelli, P, Squarzoni, S, Petrini, S, Capanni, C, Ognibene, A, Cartegni, L, Cobianchi, F, Merlini, L, Toniolo, D, Maraldi, N.M
Published in Neuromuscular disorders : NMD (01.04.1998)

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Increased resting energy expenditure in subjects with emery-dreifuss muscular dystrophy

by Vaisman, N., Nevo, Y.
Published in Clinical nutrition (Edinburgh, Scotland) (2003)

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Nuclear envelope proteins and neuromuscular diseases

by Östlund, Cecilia, Worman, Howard J.
Published in Muscle & nerve (01.04.2003)

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Novel mutations in LMNA A/C gene and associated phenotypes

by Petillo, Roberta, D'Ambrosio, Paola, Torella, Annalaura, Taglia, Antonella, Picillo, Esther, Testori, Alessandro, Ergoli, Manuela, Nigro, Gerardo, Piluso, Giulio, Nigro, Vincenzo, Politano, Luisa
Published in Acta myologica (01.12.2015)

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Primary Myocardial Dysfunction in Autosomal Dominant EDMD. A Tissue Doppler and Cardiovascular Magnetic Resonance Study

by Smith, Gillian C., Kinali, Maria, Prasad, Sanjay K., Bonne, Gisèle, Muntoni, Francesco, Pennell, Dudley J., Nihoyannopoulos, Petros
Published in Journal of cardiovascular magnetic resonance (01.01.2006)

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A lamin A/C beta-strand containing the site of lipodystrophy mutations is a major surface epitope for a new panel of monoclonal antibodies

by Manilal, Sushila, Randles, K.Natalie, Aunac, Christelle, Man, Nguyen thi, Morris, Glenn E.
Published in Biochimica et biophysica acta (17.03.2004)

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