Results 31 to 40 of about 131,096 (285)

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma, Ilo Leppik, Thomas Henry, Thaddeus Walczak, Sima Patel, Robert McGovern   +5 more
wiley   +1 more source

Tmprss3 is expressed in several cell types of the inner ear including type II but hardly in type I spiral ganglion neurons

Frontiers in Cellular Neuroscience
Mutations in the transmembrane serine protease 3 gene (TMPRSS3) cause non-syndromic hearing impairment, with congenital (DFNB10) or late childhood onset (DFNB8).
Ramil Arora, Lucie Pifková, André Ulrich Deutschmann, Ellen Reisinger, Ellen Reisinger   +4 more
doaj   +1 more source

Comparison of Self-Determination Ability and its Components in Individuals with Hearing Impairment, Visual Impairment and without Impairment [PDF]

پژوهشنامه روانشناسی مثبت, 2016
The aim of the research was comparison of self-determination ability and its components in individuals with hearing or visual impairment, and without impairment.
s Shojaee, A. A. Hossein Khanzadeh, S. Z Seyyed Noori, s Sharifi   +3 more
doaj   +1 more source

Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley   +1 more source

Longitudinal Changes in Hearing and Visual Impairments and Risk of Dementia in Older Adults in the United States [PDF]

, 2022
Phillip H Hwang, W.T. Longstreth, Stephen Thielke, Courtney E. Francis, Marco Carone, Lewis H. Kuller, Annette L. Fitzpatrick   +6 more
openalex   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +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

Response of Tonsil Follicular Dendritic Cell Sarcoma to Multimodal Treatment Including Pembrolizumab: A Case Report and Literature Review

Frontiers in Oncology, 2022
Follicular dendritic cell sarcoma (FDCS) is a rare malignant neoplasm that was classified by the World Health Organization (WHO) under histiocytic and dendritic cell neoplasms in the 2016 revision.
Nanxiang Chen, Wei Ba, Dawei Zhao, Lei Sheng, Xinxin Zhang   +4 more
doaj   +1 more source

Knee Crepitus and Osteoarthritis Features in Young Adults Following Traumatic Knee Injury

Arthritis Care &Research, EarlyView.
Objective This study explored the association between knee crepitus and the presence, and worsening, of structural osteoarthritis features and self‐reported outcomes in young adults following traumatic knee injury. Methods One year following anterior cruciate ligament reconstruction (ACLR), 112 participants (41 female participants; median age 28 years ...
Jamon L. Couch, Brooke E. Patterson, Kay M. Crossley, Ali Guermazi, Matthew G. King, Danilo De Oliveira Silva, Jackie L. Whittaker, Michael A. Girdwood, Adam G. Culvenor   +8 more
wiley   +1 more source