Adult onset spinal muscular atrophy with atrophic testes: report of two cases. [PDF]
J Richert+4 more
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تجربیات زیسته یک مادر دارای کودک مبتلا به سندرم وردینگ هافمن: مطالعه موردی کیفی The Lived Experiences of the Mother of a Child with Werdnig-Hoffman Syndrome: A Qualitative Case Study [PDF]
مقدمه: سندوم وردینگ هافمن جزء بیماریهای تحلیل برنده و پیشرونده عصبی- نخاعی محسوب میشود که به صورت اتوزومی نهفته به ارث می ...
Araghian-Mojarad, F.+2 more
core
The distal form of spinal muscular atrophy: an unusual case demonstrating the intermediate variety [PDF]
David Isenberg, Pauline A Kahn
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Research progress of neurovascular units involved in ischemic stroke
The brain receives less blood when an ischemic stroke develops, which damages neurons and leads to an increased release of Pro‐inflammatory mediators that activate neurovascular unit (NVU). When the tight junctions are broken and the basement membrane is disrupted by matrix metalloproteinases produced by active endothelial and pericellular cells ...
Yu Yang+4 more
wiley +1 more source
Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference? [PDF]
The physical and social challenges associated with neuromuscular disorders may impact mental wellbeing in non-ambulant youth during the more vulnerable period of adolescence.
Downs, Jenny+4 more
core +1 more source
Spinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene, which encodes a ligand-dependent transcription factor.
Yiyang Qin+8 more
doaj +1 more source
PROGRESSIVE SPINAL MUSCULAR ATROPHIES. (International Review of Child Neurology Series). Edited by Ingrid Gamstorp and Harvey B. Sarnat. Published by Raven Press. $28.00 Cdn. approx. [PDF]
John A.R. Tibbies
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FIGO position statement: Gamete donations
Abstract Gamete donation has become a crucial part of Assisted Reproductive Technologies (ARTs), providing hope to individuals, including those who may have no other option for parenthood. This process comes with a wide range of ethical, medical, and legal challenges that need to be carefully addressed to protect the well‐being and rights of all ...
Laurie Henry+20 more
wiley +1 more source
Mitochondrial dysfunction: Related diseases, influencing factors, and detection
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li+9 more
wiley +1 more source
Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. [PDF]
Z Borochowitz, Bruce Glick, S Blazer
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