Results 161 to 170 of about 186,376 (313)

Management of ataxias : guidelines on best clinical practice

, 2007
This document aims to provide recommendations for healthcare professionals on the diagnosis and management of people with ataxia. Ataxia means ‘lack of coordination’ and it is a symptom of many conditions.
Hunt, B, De Silva, R, Fletcher, N, Surtees, R, Lowit, Anja, Hadjivassiliou, M, Robertson, N, Morrison, P, Schapira, T, Giunti, P, Talbot, K, Harrison, E   +11 more
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The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

A Circular and Tacticity‐Independent Crystalline Mono‐Substituted Nylon‐6 Platform: Unexpected Large Positional Effects on Crystallizability and Performance

Angewandte Chemie, EarlyView.
Methyl substitution positions on the nylon‐6 backbone markedly affect crystallizability, thermomechanical properties, and recyclability of the resulting atactic nylon‐6 variants. While γ‐methyl substitution gives an amorphous nylon, all other four methyl‐substitution positions (α, β, δ, and ε) afford, unexpectedly, crystalline nylons, showing tacticity‐
Jun‐Jie Tian, Jiyun Nam, Lili Wang, Andrea L. Baer, Ruirui Li, Maëlle T. Gace, Wei‐Feng Zheng, Clarissa Lincoln, Nicholas A. Rorrer, Eugene Y.‐X. Chen   +9 more
wiley   +2 more sources

Spectrum of Dystonia in Spinocerebellar Ataxia. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Yellaturi SR, Mukherjee A, Pandey S.
europepmc   +1 more source

Temporal and spatial variability in speakers with Parkinson's Disease and Friedreich's Ataxia

, 2008
Speech variability in groups of speakers with Parkinson's disease (PD) and with Friedreich's ataxia was compared with healthy controls. Speakers repeated the same phrase 20 times at one of two rates (fast or habitual).
Lowit, Anja, Howell, Peter, Anderson, Andrew   +2 more
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One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

An International Survey of Patients with Ataxia: Trends in Patient-Reported Symptoms. [PDF]

Cerebellum
Suart C, Alcott A, Shogren L, Trace K, Rosenthal LS, Moore L.   +5 more
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis. [PDF]

Neurol Res Pract
Eumann R, Krahe J, Dogan I, Costa AS, Schulz JB, Lischewski SA, Reetz K, FACROSS Study Group.   +7 more
europepmc   +1 more source

Ataxia-telangiectasia: future prospects

, 2014
Mohammed Wajid Chaudhary, Raidah Saleem Al-Baradie Pediatric Neurology, Neurosciences Centre, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia Abstract: Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by
Al-Baradie RS, Chaudhary MW
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