Results 101 to 110 of about 9,576 (247)

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

The Veterans Affairs Neuropathy Scale: A Reliable, Remote Polyneuropathy Exam. [PDF]

, 2019
Introduction: Polyneuropathy (PN) complaints are common, prompting many referrals for neurologic evaluation. To improve access of PN care in distant community clinics, we developed a telemedicine service (patient-clinician interactions using real-time ...
Jamal, Nasheed I, Ong, Michael K, Saliba, Debra, Wilson, Andrew M   +3 more
core  

A case of hereditary sensory and autonomic neuropathy type 4 presenting with chronic trophic ulcers [PDF]

, 2019
Hereditary Sensory and Autonomic Neuropathy (HSAN) is a rare group of diseases involving varying degrees of peripheral nervous system. It is classified into five main types.
Shamkuwar, Pratibha B., Tilak, Kedar M.
core   +2 more sources

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Hereditary Transthyretin Amyloidosis Polyneuropathy

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims In individuals with hereditary transthyretin amyloidosis (ATTRv) polyneuropathy, monitoring of disease progression and treatment response is crucial. The objective is to determine if serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) are reliable biomarkers of ATTRv polyneuropathy ...
Valentin Loser, Pascal Benkert, Alex Vicino, Nicolas Ghika, Pansy Lim Dubois Ferrière, Chantal Daigneault, Thierry Kuntzer, Aleksandra Maleska Maceski, Jens Kuhle, Marie Théaudin   +9 more
wiley   +1 more source

Gender based differences in diabetic peripheral neuropathy [PDF]

, 2014
Diabetic peripheral neuropathy (DPN) is one of the common complications of diabetes mellitus. Aim: To find out gender based differences in frequency of DM, age at diagnosis of DM and subsequent onset of DPN, duration of DM and DPN and ...
Furqan, Ahmad, Javed, Athar, Kasuri, Naeem, Zaheer, Mohsin   +3 more
core   +1 more source

Molecular determinants of signal transduction in tropomyosin receptor kinases

FEBS Open Bio, Volume 16, Issue 2, Page 252-267, February 2026.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source

Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE

BMC Neurology, 2018
Background DNA methyltransferase 1 (EC 2.1.1.37), encoded by DNMT1 gene, is one of key enzymes in maintaining DNA methylation patterns of the human genome.
Wenxia Zheng, Zhenxing Yan, Rongni He, Yaowei Huang, Aiqun Lin, Wei Huang, Yuying Su, Shaoyuan Li, Victor Wei Zhang, Huifang Xie   +9 more
doaj   +1 more source

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]

, 2015
published_or_final_versio
Chen, WT, Chou, CH, Feng, Y, Hsu, YY, Huang, HD, Jong, YJ, Lam, CW, Liang, WC, Lin, TS, Tian, X, Wang, J, Wong, LJ, Zhang, VW   +12 more
core   +1 more source

Exocrine Pancreatic Insufficiency Manifesting Before Insulin Dependence in Adult‐Onset Type 1 Diabetes

Clinical Case Reports, Volume 14, Issue 2, February 2026.
Exocrine Pancreatic Insufficiency Manifesting Before Insulin Dependence in Adult‐Onset Type 1 Diabetes. Unexplained steatorrhea or weight loss in people with diabetes warrants further investigations including imaging of abdomen/pancreas, exocrine pancreatic function and diabetes antibody testing.
Panagiotis Pavlou, Shrawan Pandit, Janaka Karalliedde   +2 more
wiley   +1 more source

Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5

Stem Cell Research, 2018
In this study, we report the human induced pluripotent stem cell line (iPSC) HSAN5-T203 M-iPSC, generated from human dermal fibroblasts (HDF) of a woman carrying a heterozygous c.608C > T mutation in the nerve growth factor gene potentially associated ...
Thomas Klein, Lisa Henkel, Katharina Klug, Chee Keong Kwok, Eva Klopocki, Nurcan Üçeyler   +5 more
doaj   +1 more source