Results 291 to 300 of about 955,582 (345)
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
Atlas of Human Anatomy, 5th ed., Vols 1 & 2, Petra Köpf-Maier : book review
Damon Bizos
openalex +1 more source
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen +18 more
wiley +1 more source
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Clinics in Dermatology, 2015
We review the normal anatomy of the human globe, eyelids, and lacrimal system. This contribution explores both the form and function of numerous anatomic features of the human ocular system, which are vital to a comprehensive understanding of the pathophysiology of many oculocutaneous diseases.
Barry D, Kels +2 more
openaire +2 more sources
We review the normal anatomy of the human globe, eyelids, and lacrimal system. This contribution explores both the form and function of numerous anatomic features of the human ocular system, which are vital to a comprehensive understanding of the pathophysiology of many oculocutaneous diseases.
Barry D, Kels +2 more
openaire +2 more sources
2022
The Treatise on Human Anatomy published by Edi.Ermes for the first time in 1975 has been for over 40 years the reference text for many young students devoted to Medicai Science We now release a new edition of the Treatise on Human Anatomy that, while maintaining the originai systemic and methodological approaches, faces some new challenges. Firstly, in
M.G. Prives +2 more
openaire +3 more sources
The Treatise on Human Anatomy published by Edi.Ermes for the first time in 1975 has been for over 40 years the reference text for many young students devoted to Medicai Science We now release a new edition of the Treatise on Human Anatomy that, while maintaining the originai systemic and methodological approaches, faces some new challenges. Firstly, in
M.G. Prives +2 more
openaire +3 more sources

