Results 61 to 70 of about 4,617 (234)

Spinal muscular atrophy: Factors that modulate motor neurone vulnerability. [PDF]

, 2017
Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To
Heath, P.R., Highley, J.R., Simpson, J.E., Tu, W.Y.   +3 more
core   +1 more source

Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: a novel case of the distinct "S331 syndrome" [PDF]

, 2020
Hereditary sensory and autonomic neuropathies (HSAN) encompass a group of peripheral nervous system disorders characterized by remarkable heterogeneity from a clinical and genetic point of view.
Bruno, Giorgia, Casertano, Sara, Colavito, Davide, Fratta, Mario, Oliva, Mariano, Puoti, Gianfranco, Rossi, Fabiana, Sampaolo, Simone   +7 more
core   +1 more source

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE VIII

Indian Journal of Case Reports, 2016
Hereditary sensory and autonomic neuropathy type VIII (HSAN 8 or HSAN VIII) is a rare genetic disorder that usually begins in infancy and is characterized by an inability to feel pain and inability to sweat (anhidrosis). The sensory loss in individuals with HSAN VIII is due to abnormal functioning of the sensory nerves that control responses to pain ...
Sunil Jayaram Pawar, Shyamsunder Tipparaju   +1 more
openaire   +2 more sources

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis

Advanced Science, EarlyView.
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong, Ming Ho Yam, Jiaxin Zhang, Lin Du, Linbin Zhou, Yolanda Wong Ying Yip, Bo Man Ho, Hemlata Bisnauthsing, Jiahui Li, Ivan Kong, Shushu Xu, Changzhen Fu, Karl K.H. So, Joaquim S.L. Vong, Ling‐Ping Cen, Ming‐Ming Yang, Khazeema Yousaf, Mai Har Sham, Sun On Chan, Poemen P. Chan, Chi Pui Pang, Clement C. Tham, Jing Na He, Jian Li, Wai Kit Chu   +24 more
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system

Disease Models & Mechanisms, 2017
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction.
Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A. Michael Babcock, George A. Carlson, Frances Lefcort   +15 more
doaj   +1 more source

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist [PDF]

, 2014
Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized.
Arie Oksenberg, Natan Gadoth
core   +1 more source

An Alternative Aproach of Exercise Prescription for Type 2 Diabetes Control in Time and Space Restrictions

Chronic Diseases and Translational Medicine, EarlyView.
Continuum of physical behavior changes and important questions about exercise prescription approach in the diabetes context. ABSTRACT Although physical exercise is widely recognized for its role in glycemic control and overall health, population characteristics such as comorbidities, sedentary behavior, disease‐related complications, and socioeconomic ...
Rodrigo Sudatti Delevatti, Samara Nickel Rodrigues, Cristine Lima Alberton   +2 more
wiley   +1 more source

Early onset hereditary sensory autonomic neuropathy type I and not leprosy

Indian Journal of Dermatology, 2009
Hereditary sensory autonomic neuropathies (HSAN) are rare forms of chronic neuropathies in children, which lead to severe complications like foot ulcers, mutilations, fractures and deformities.
Pande Sushil, Kharkar Vidya, Mahajan Sunanda, Khopkar Uday   +3 more
doaj  

A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree

BMC Neurology, 2018
Background Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is an autosomal recessive disorder with predominant sensory dysfunction and severe complications such as limb destruction.
Behrouz Rahmani, Fatemeh Fekrmandi, Keivan Ahadi, Tannaz Ahadi, Afagh Alavi, Abolhassan Ahmadiani, Sareh Asadi   +6 more
doaj   +1 more source