Results 121 to 130 of about 6,851 (202)

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  

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

[Emery-Dreifuss muscular dystrophy: case report].

Arquivos de neuro-psiquiatria, 2006
The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibers. A 19-years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early ...
Ana Lucila Moreira, Carsten, Paulo José, Lorenzoni, Rosana Herminia, Scola, Lineu César, Werneck   +3 more
openaire   +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

Cardiac Rehabilitation in a Transplanted Person with Emery-Dreifuss Muscular Dystrophy. [PDF]

Arq Bras Cardiol, 2023
Loureiro M, Branco C, Duarte J, Coutinho G, Martins MM, Novo A.   +5 more
europepmc   +1 more source

Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children. [PDF]

Front Cardiovasc Med, 2021
Kovalchuk T, Yakovleva E, Fetisova S, Vershinina T, Lebedeva V, Lyubimtseva T, Lebedev D, Mitrofanova L, Ryzhkov A, Sokolnikova P, Fomicheva Y, Kozyreva A, Zhuk S, Smolina N, Zlotina A, Pervunina T, Kostareva A, Vasichkina E.   +17 more
europepmc   +1 more source