Results 191 to 200 of about 9,766,746 (345)

Mapping the Journey: Family Carers’ Perceptions of Issues Related to End-Stage Care of Individuals with Muscular Dystrophy or Motor Neurone Disease [PDF]

, 2003
Sky Dawson, Linda J. Kristjanson
openalex   +1 more source

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, on behalf of the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
wiley   +1 more source

Medical disease and molecular biology.2.Nerve and muscular diseases.

, 1992
金澤 一郎
openalex   +2 more sources

Limitation to muscular activity in chronic obstructive pulmonary disease [PDF]

, 2004
K. J. Killian
openalex   +1 more source

The Case of a 25‐Year‐Old Woman With Isolated Head Tremor

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao, Zhihong Xu, Xingyu Zhuang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji   +5 more
wiley   +1 more source

Recent progress in identification of the X-linked Spinal Muscular Atrophy (XLSMA) gene confirms a major disease locus between Xpl 1.3-Xpl 1.2

, 1999
L. Baumbach, Devin Dressman, A Meindl, Eric P. Hoffman   +3 more
openalex   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source

Spinal muscular atrophy with respiratory disease (SMARD): an ethical dilemma [PDF]

, 2006
Andrew Bush
openalex   +1 more source

Development of a personalized visualization and analysis tool to improve clinical care in complex multisystem diseases with application to scleroderma

Arthritis Care &Research, Accepted Article.
Background In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of a scleroderma patient's ...
Ji Soo Kim, John Scott, Lauren Fisher, Lauren N. Smith, Willie Stewart, Adrianne Woods, Rob Smithwright, Diane Koher, Parastoo Aslanbeik, Aalok B. Shah, Brad Tibbils, Samantha I. Pitts, Ayse P. Gurses, Yushi Yang, Ana‐Maria Orbai, Antony Rosen, Laura K. Hummers, Scott L. Zeger, Ami A. Shah   +18 more
wiley   +1 more source

Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future. [PDF]

Biomolecules
Pauper M, Hentschel A, Tiburcy M, Beltran S, Ruck T, Schara-Schmidt U, Roos A.   +6 more
europepmc   +1 more source