Results 91 to 100 of about 2,725,444 (278)

Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCF^Slmb degron [PDF]

, 2017
Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1. Expression of a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein isoform, SMNΔ7.
A. Gregory Matera, Ackermann B, Ahmad S, Allison D. Ebert, Amanda C. Raimer, Angus I. Lamond, Ashlyn M. Spring, Bischof J, Bowerman M, Bowerman M, Burghes Arthur HM, Burnett BG, Cauchi RJ, Chan YB, Chang HC, Chang HCH, Charroux B, Chen PC, Cho S, Choudhury R, Christian L. Lorson, Coovert DD, Crawford TO, Custer SK, David Baillat, Dimitriadi M, Dominguez E, Ebert AD, Ebert AD, Eric J. Wagner, Fan L, Fischer U, Foust KD, Frescas D, Fuchs SY, Garcia EL, Garcia EL, Gates J, Genabai NK, Glascock JJ, Gregory D. Van Duyne, Groen EJN, Gupta K, Guruharsha KG, Han KJ, Hosseinibarkooie S, Hsieh-Li HM, Hsu SH, Ikeda F, Jacqueline J. Glascock, Jain AK, Jiang J, Jin J, Kariya S, Kelsey M. Gray, Kevin A. Kaifer, Khush RS, Kim EK, Kim TY, Kirkin V, Kolb SJ, Komander D, Kong L, Korhonen L, Kroiss M, Kushol Gupta, Kwon DY, Le TT, Lee YC, Lefebvre S, Lefebvre S, Li DK, Li XM, Lim KL, Liu C, Liu F, Liu M, Lorson CL, Lorson CL, Lorson CL, Makhortova NR, Marblestone JG, Martin R, Matera AG, McWhorter ML, Meister G, Michael J. Emanuele, Monani UR, Monani UR, Mukhopadhyay D, Murase S, Ning K, Ogino S, Ojeda L, Oprea GE, Oskoui M, O’Hearn PJ, Paquette N, Passini MA, Patton EE, Patton EE, Pearn J, Pellizzoni L, Petroski MD, Pillai RS, Praveen K, Praveen K, Prior TW, Rajendra TK, Ramser J, Rindt H, Rogers SL, Rossoll W, Sanchez G, Sara ten Have, Sareen D, Schmutzler RK, Shafey D, Sharma A, Svendsen CN, Tan JMM, Thomas R. Bonacci, Tiziano FD, Trinkle-Mulcahy L, Valori CF, van Wijk SJL, Voigt T, Walker MP, Wee CD, Wishart TM, Ye Y, Ying Wen, Yukiko Yamashita, Zhang L, Zheng N, Zhou R   +135 more
core   +3 more sources

Differentiating lower motor neuron syndromes [PDF]

, 2017
Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal
Cornblath, DR, Garg, N, Howells, J, Huynh, W, Kiernan, MC, Krishnan, AV, Matamala, JM, Park, SB, Pollard, JD, Reilly, MM, Spies, J, Vucic, S, Yiannikas, C   +12 more
core  

Quality of Life of People With Neuromuscular Diseases: The Role of Stigma

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Stigma is thought to have a profound impact on quality of life (QoL) among people with neuromuscular diseases (NMD), but empirical evidence is limited. This study sought to explore associations of enacted stigma (social exclusion) and felt stigma (shame, fear of exclusion) with QoL.
Marion Sommers‐Spijkerman, Esther Kruitwagen‐van Reenen, Willeke Kruithof, Johanna M. A. Visser‐Meily, Eline Scholten, Anita Beelen   +5 more
wiley   +1 more source

Bilateral Wrist Drop at Presentation in a Child with Spinal Muscular Atrophy Type I [PDF]

, 2014
N
Abdelrahim, Rana, Al-Futaisi, Amna, Al-Nabhani, Susan, Koul, Roshan   +3 more
core   +2 more sources

The Prognostic Significance of Handgrip Strength in Cirrhosis: Simplicity Is the Ultimate Sophistication

Portal Hypertension &Cirrhosis, EarlyView.
The advantages to measure handgrip strength (HGS) are simple, convenient, noninvasive, cost‐effective, and easy to be widely carried out during daily clinical practice. Mounting evidence demonstrates that muscle strength measured by HGS is a feasible and reliable metric to evaluate nutritional status, as well as relevant cirrhosis‐related complications
Binxin Cui, Ziyi Yang, Chao Sun
wiley   +1 more source

Epidural anesthesia for the patient with type IV spinal muscular atrophy -A case report- [PDF]

, 2010
Spinal muscular atrophy (SMA) is a rare lower motor neurone disease in which anesthetic management is often difficult as a result of muscle weakness, hypersensitivity to non-depolarizing neuromuscular blocking agent, and succinylcholine induced ...
Baum, Buettner, Byung Woo Min, Choi, Eun Ju Kim, Hebl, Higuchi, Hobaika, Hong, Ji Hyang Lee, Jong Seouk Ban, Kurup, Lefebvre, Pearn, Sang Gon Lee, Seon Jin Kim, Sung, Upton, Warren, Weston   +19 more
core   +2 more sources

Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association; Society of Audiology and Vestibular Medicine, China International Exchange and Promotive Association for Medical and Health Care, Hong‐Yang Wang, Guo‐Hui Nie, Xiao‐Nan Wu, Ding‐Jun Zha, Tao Shi, Hai‐Bo Shi, Yong Feng, Wen‐Yan Li, Hai‐Hong Liu, Qing Zhang, Xiao‐Wei Chen, Xia Gao, Yong‐Xin Li, Lu Ma, Jin Li, Dan‐Yang Li, Xiao‐Long Zhang, Meng‐Tao Song, Xin Zhou, Lan Lan, Lan Yu, Meng‐Qian Zhang, Wei Shi, Fen Xiong, Lin‐Yi Xie, Guo‐Hui Chen, Kai‐Li Wu, Xiao‐Qian Ren, Qiu‐Jing Zhang, Ming‐Hui Zhao, Zi‐Yi Chen, Fei Ji, Jiao Zhang, Jing Guan, Da‐Yong Wang, Ren‐Jie Chai, Xin Jin, Hua‐Wei Li, Shi‐Ming Yang, Shan‐Kai Yin, Qiu‐Ju Wang   +43 more
wiley   +1 more source

Automatic segmentation of the spinal cord and intramedullary multiple sclerosis lesions with convolutional neural networks [PDF]

arXiv, 2018
The spinal cord is frequently affected by atrophy and/or lesions in multiple sclerosis (MS) patients. Segmentation of the spinal cord and lesions from MRI data provides measures of damage, which are key criteria for the diagnosis, prognosis, and longitudinal monitoring in MS.
arxiv  

‘Expression is power’: Gender, residual culture and political aspiration at the Cumnock School of Oratory, 1870–1900

Gender &History, EarlyView.
Abstract This article investigates the ways in which late‐nineteenth‐century students at Northwestern University's Cumnock School of Oratory mobilised elocution training and parlour performance to foster mixed‐gender public discourse. I use student publications to reconstruct parlour meetings in which women and men adapted traditions of conversational ...
Fiona Maxwell
wiley   +1 more source

Severe depletion of mitochondrial DNA in spinal muscular atrophy [PDF]

, 2003
Spinal muscular atrophy (SMA) is a neuromus- cular disorder in childhood leading to a dramatic loss of muscle strength. Functional investigations with high-reso- lution polarography and enzyme measurements of the res- piratory chain revealed lowered ...
Berger, A., Bittner, R., Budka, H., Fötschl, U., Grethen, C., Huemer, M., Kofler, B., Mayr, J., Meierhofer, D., Sperl, W.   +9 more
core   +2 more sources