Results 111 to 120 of about 6,801 (167)

Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series. [PDF]

Eur Heart J Case Rep, 2023
Kashyap N, Nikhanj A, Gagnon LR, Moukaskas B, Siddiqi ZA, Oudit GY.   +5 more
europepmc   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Familial Testicular Germ Cell Tumor in Two Brothers With Emery Dreifuss Muscular Dystrophy Caused by an FHL-1 Mutation: A Case Report. [PDF]

Cureus, 2023
Angerer M, Wülfing C, Dieckmann KP.
europepmc   +1 more source

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement [PDF]

, 1996
Becker, A.E. (Anton), Bouwsma, G. (G.), Busch, H.F.M. (Herman), Kooj, A.J. (Anneke), Ledderhof, T.M. (T.), Res, J. (Jan), Troost, D. (Dirk), Visser, M. (Marianne) de, Voogt, W.G. (W.) de   +8 more
core   +1 more source

Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees. [PDF]

Hum Mol Genet, 2023
de Las Heras JI, Todorow V, Krečinić-Balić L, Hintze S, Czapiewski R, Webb S, Schoser B, Meinke P, Schirmer EC.   +8 more
europepmc   +1 more source

Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery-Dreifuss Muscular Dystrophy: A Case Report and Literature Review. [PDF]

Orthop Surg, 2022
Tang Z, Hu Z, Qin X, Zhu Z, Liu Z.
europepmc   +1 more source

Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5. [PDF]

J Neuroophthalmol, 2021
Douglas KAA, Douglas VP, Gaier ED, Chwalisz BK.   +3 more
europepmc   +1 more source

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient. [PDF]

Front Cardiovasc Med, 2022
Perepelina K, Zaytseva A, Khudiakov A, Neganova I, Vasichkina E, Malashicheva A, Kostareva A.   +6 more
europepmc   +1 more source

Genetic investigation of an Iraqi family with Emery-Dreifuss muscular dystrophy

Journal of Rare Diseases
Background Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterized by a distinctive combination of symptoms that affect both the skeletal muscles and the heart.
Mostafa Neissi, Ayoob Radhi Al-Zaalan, Adnan Issa Al-Badran, Javad Mohammadi-Asl   +3 more
doaj   +1 more source

Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement of EMD and FLNA in Emery-Dreifuss Muscular Dystrophy. [PDF]

Front Genet, 2021
Song D, Li X, Wei W, Liu X, Wu L, Xiong H.   +5 more
europepmc   +1 more source