Results 131 to 140 of about 283,904 (179)

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

Trappc4 is required for early mammalian development. [PDF]

Zygote
Mirza SS, Bassom L, Ahn M, Mager J.
europepmc   +1 more source

The Role of Intravenous Tranexamic Acid for Posterior Spinal Fusion in Pediatric Non-Idiopathic Scoliosis: A Systematic Review and Meta-Analysis. [PDF]

J Clin Med
Al-Naseem AO, Ali Y, AlOtaibi L, Altarkait A, Albisher B, Alkandari A, Alkandari Y, Cardahi F, Al Rawahi S, Saran N, Ouellet JA.   +10 more
europepmc   +1 more source

Deep Learning outperforms physicians in myopathy and neuropathy classification based on Needle Electromyography Signal. [PDF]

PLoS One
Yoo I, Yoo J, Kim D, Youn I, Kim H, Youn M, Won JH, Cho W, Myong Y, Kim S, Yu R, Kim SM, Kim K, Lee SB, Kim K.   +14 more
europepmc   +1 more source

An Omics View of Emery–Dreifuss Muscular Dystrophy [PDF]

Journal of Personalized Medicine, 2020
Recent progress in Omics technologies has started to empower personalized healthcare development at a thorough biomolecular level. Omics have subsidized medical breakthroughs that have started to enter clinical proceedings. The use of this scientific know-how has surfaced as a way to provide a more far-reaching view of the biological mechanisms behind ...
Antoine Muchir, Nicolas Vignier
exaly   +5 more sources

Emery-Dreifuss muscular dystrophy [PDF]

European Journal of Human Genetics, 2002
Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and ...
Gisele Bonne, Anne Helbling-Leclerc
exaly   +3 more sources

Emery-Dreifuss muscular dystrophy [PDF]

Anaesthesia, 1991
Summary Emery‐Dreifuss syndrome is a rare form of muscular dystrophy associated with cardiac complications that lead to sudden death. The disorder and its potential anaesthetic implications in the management of a patient who presented for orthopaedic surgery is described.
P, Morrison, R H, Jago
exaly   +3 more sources

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Emery-Dreifuss Muscular Dystrophy

Seminars in Neurology, 1999
Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dystrophy. This disorder is characterized by childhood onset of early contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. Weakness is slowly progressive, but there is a broad spectrum of clinical severity. Patients and carriers are at risk
Stephen Warren
exaly   +3 more sources

Emery-Dreifuss muscular dystrophy

The Journal of Pediatrics, 1984
Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct neuromuscular disease with special pediatric implications. We describe three affected boys with the typical early contractures and weakness. Two patients are from a large kindred that includes older affected males and carrier females, both of whom had lethal cardiac ...
R P, Dickey, F A, Ziter, R A, Smith
openaire   +2 more sources