Results 71 to 80 of about 730,614 (221)

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

, 2006
Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2 gene assigned to chromosome 12p13.33. The authors report three unrelated HSAN-II families with homozygous or compound heterozygous mutations ...
Salmhofer, W., Goemans, Nathalie, De Jonghe, P., Auer-Grumbach, M., Laurà, M., Scaioli, V., Timmerman, V., Coen, K., Pieber, T.R., Verpoorten, N., Claeys, Kristl, Nelis, E., Pareyson, D., Buyse, Gunnar   +13 more
core   +1 more source

Optical Stimulation and Monitoring of the Peripheral Nervous System: Perspectives and Challenges Toward Clinical Translation

Laser &Photonics Reviews, EarlyView.
Optical neuromodulation with IR light allows stimulation of the PNS without the need for physical contact with the target nerve or without requiring any genetic modification. The clinical translation of this technique will pave the way to the development of neural interfaces for restoring sensory feedback in individuals with limb amputation.
Federica Piccirillo, Sarassunta Ucci, Anna Aliberti, Patrizio Vaiano, Alessia La Rocca, Francesca Angelone, Silvia Pascarella, Pellegrino Lippiello, Maria Concetta Miniaci, Giuseppe Prisco, Michela Russo, Francesco Amato, Deyanira Contartese, Milena Fini, Gianluca Giavaresi, Lucia Martini, Francesco Rosa, Cosimo Gentile, Emanuele Gruppioni, Armando Ricciardi, Andrea Cusano   +20 more
wiley   +1 more source

Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient

Basic and Clinical Neuroscience, 2013
Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose their feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene ...
Nasrollah Saleh-gohari, Marzye Mohammadi-Anaie   +1 more
doaj   +2 more sources

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases

Muscle &Nerve, EarlyView.
This scoping review summarizes the spectrum of upper extremity assistive devices for adults with progressive neuromuscular diseases, ranging from low‐tech supports to advanced robotics, exoskeletons, and brain‐computer interface systems. While these technologies show promise for improving enabling function, current evidence is largely limited to ...
Katherine M. Burke, Stephanie Johnson, Kayla Chomko, Angela Escalante, Kendall C. Hall, Melis Lydston, Courtney Uek, Gabriella Casagrande, Hyun Jung Kim, James Arnold, David Pont‐Esteban, Harrison Young, Conor Walsh, Sabrina Paganoni   +13 more
wiley   +1 more source

Keratoconus associated with hereditary sensory and autonomic neuropathy II

Indian Journal of Ophthalmology, 2022
Zalak Shah, Shwetambari Singh, Dipali Purohit, Neha Shilpy   +3 more
doaj   +1 more source

Congenital insensitivity to pain: Review with dental implications

Indian Journal of Pain, 2014
Pain causes a reflex withdrawal from any stimuli that can cause actual or potential tissue damage. It is frequently an early symptom of a disease process and is often the impetus for a patient to seek medical treatment.
A Vijay Kumar, H P Jaishankar, Purnachandrarao Naik   +2 more
doaj   +1 more source

Diagnostic approach to peripheral neuropathy

Annals of Indian Academy of Neurology, 2008
Peripheral neuropathy refers to disorders of the peripheral nervous system. They have numerous causes and diverse presentations; hence, a systematic and logical approach is needed for cost-effective diagnosis, especially of treatable neuropathies.
Misra Usha, Kalita Jayantee, Nair Pradeep   +2 more
doaj  

A comprehensive Sustainable Development Goal‐guided framework for advancing survivorship, rehabilitation, and quality of life in breast cancer patients

Precision Medical Sciences, EarlyView.
This article presents an Sustainable Development Goal‐aligned framework integrating survivorship care, rehabilitation, and quality‐of‐life strategies for breast cancer patients, emphasizing equity, gender responsiveness, and health system strengthening. It highlights multidisciplinary, patient‐centered interventions and global partnerships as essential
Emmanuel Ifeanyi Obeagu
wiley   +1 more source

Neurotrophic Signaling, Sleep Physiology, and Retinal Neuroprotection: Integrative Mechanisms and Therapeutic Implications for Glaucoma

Sensory Neuroscience, EarlyView.
Glaucoma is increasingly understood as a neurodegenerative disorder shaped by sleep and circadian physiology, not intraocular pressure alone. Sleep loss and obstructive sleep apnea suppress BDNF–TrkB neurotrophic signaling, impair sleep‐dependent glymphatic clearance, and trigger microglial neuroinflammation and vascular insult at the optic nerve head,
Karyme M. Alemán‐Villa, Emiliano Terán, Javier A. Magaña‐Gómez, Loranda Calderón‐Zamora, Beatriz K. De la Herrán‐Arita, Alberto K. De la Herrán‐Arita   +5 more
wiley   +1 more source