Results 51 to 60 of about 10,587 (266)

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

Hereditary sensory neuropathy type I

Orphanet Journal of Rare Diseases, 2008
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.
Auer-Grumbach Michaela
doaj   +1 more source

Current evidence for a modulation of low back pain by human genetic variants [PDF]

, 2009
The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration
Aberle, Agarwal, Agrawal, Aladin, Anderson, Andersson, Annunen, Arnold, Ashford, Atkinson, Bandell, Battie, Battie, Bautista, Bejaoui, Berthele, Beyer, Blau, Bond, Brown, Brown, Brown, Campa, Caraco, Carbonell Sala, Carragee, Cascorbi, Cho, Chou, Chou, Cipollone, Collart, Cox, Dalen, Daly, Dawkins, Dayer, Dayer, Diatchenko, Diatchenko, Diatchenko, Dick, Doehring, Eckhardt, Einarsdottir, Fillingim, Foulkes, Fu, Gasche, Goldberg, Grant, Gross, Gursoy, Gutierrez-Roelens, Hamdani, Hartvigsen, Hayashida, Hernandez, Higashino, Hirose, Hoyland, Hummel, Hustmyer, Ikeda, Indo, Irmgard Tegeder, Jayamanne, Jim, Jörn Lötsch, Kales, Kalichman, Karppinen, Karsak, Kawaguchi, Kawaguchi, Kawasaki, Khoromi, Kim, Kim, Kim, Kim, Kirchheiner, Kirchheiner, Klepstad, Knoeringer, Kroslak, Kuisma, Kung, Lafreniere, Landau, Langdahl, Le Maitre, Lee, Lettre, Leyne, Lichtman, Liem, Lorenzo, Lotsch, Lotsch, Lotsch, Lotsch, Lotsch, Lotsch, Lovlie, Lu, Luoma, Lötsch, MacDonald, Macpherson, Madadi, Manning, McNamara, Meeus, Meller, Meller, Mignat, Mio, Miura, Mogil, Mogil, Morrison, Nguyen, Noponen-Hietala, Noponen-Hietala, Oakley, Oertel, Oertel, Oertel, Ofek, Ohtori, Oliveira, Paassilta, Papafili, Pilotto, Pluijm, Poulsen, Racz, Racz, Rakvag, Ralston, Ralston, Reyes-Gibby, Richards, Riviere, Roddier, Romberg, Russo, Sachse, Sakai, Schmidt, Schneider, Seki, Seki, Sindrup, Sipe, Skarke, Skarke, Slade, Slaugenhaupt, Solovieva, Solovieva, Solovieva, Solovieva, Solovieva, Srinivasan, Srinivasan, Stamer, Stamer, Steward, Stohler, Suzuki, Svendsen, Tadic, Takahashi, Tam, Tander, Tegeder, Tegeder, Thieme, Thomas, Trevisani, Uitterlinden, Ujike, van Meurs, Vargas-Alarcon, Verhoeven, Videman, Videman, Virtanen, Voronov, Vree, Wiesinger, Yamada, Yazdanpanah, Zhang, Zhang, Zhang, Zhang, Zubieta, Zuo   +200 more
core   +1 more source

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent [PDF]

Journal of Clinical and Diagnostic Research, 2017
Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties.
Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro   +4 more
doaj   +1 more source

Generation of a transgenic mouse embryonic stem cell line expressing Dnmt1Y495C mutation associated with HSAN1E disorder

Stem Cell Research, 2021
DNMT1 Y495C is the most common mutation associated with hereditary sensory and autonomic neuropathy type 1E, and dementia. Here we employed non-homologous recombination and generated a mouse embryonic stem cell line carrying a transgene expressing DNMT1 ...
Sumana Choudhury, K. Naga Mohan
doaj   +1 more source

Linkage between increased nociception and olfaction via a SCN9A haplotype [PDF]

, 2013
Background and Aims: Mutations reducing the function of Nav1.7 sodium channels entail diminished pain perception and olfactory acuity, suggesting a link between nociception and olfaction at ion channel level.
Doehring, Alexandra, Heimann, Dirk, Hummel, Thomas, Lötsch, Jörn, Oertel, Bruno Georg   +4 more
core   +2 more sources

Congenital corneal anesthesia: A case series

Indian Journal of Ophthalmology, 2022
Congenital corneal anesthesia (CCA) is an extremely rare condition where the cornea is affected in isolation or as a part of congenital syndrome, or can be associated with systemic anomalies.
Aruna P Jayarajan, Ashok Sharma, Rajan Sharma, Verinder S Nirankari, Shivananda Narayana, Josephine S Christy   +5 more
doaj   +1 more source

The pathological diagnosis of nerve biopsies: a practical approach [PDF]

, 2016
The approach to the neuropathological assessment of nerve biopsies is the main focus of this review. Nerve biopsies are invasive diagnostic procedures resulting in a permanent neurological deficit, and are therefore carried out only following an in-depth
Brandner, S
core   +1 more source

The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Peter Pacut, Joy Cannon, Neel Dixit, Qihua Fan   +3 more
wiley   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source