Results 111 to 120 of about 894,945 (299)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Associations Between Biomarkers of Alzheimer's Disease and Sleep in Cognitively Unimpaired Older Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sleep disturbances have been implicated as a risk factor for developing Alzheimer's disease (AD), but evidence linking plasma AD biomarkers to sleep in cognitively unimpaired individuals remains limited. The present study examined associations between evening, morning, and overnight changes in plasma AD biomarkers and measures of ...
Cornelia Sauter, Hans Dorn, Julian Hellmann‐Regen, Ana Bueno‐Lopez, Verena van Ginneken, Heidi Danker‐Hopfe   +5 more
wiley   +1 more source

Goals, adaptive self-regulation, and psychosocial adjustment to lower limb amputation: A longitudinal study [PDF]

, 2012
Lower limb amputation is a life-changing event that can cause significant disruptions in many important areas of existence. Although a substantial minority of individuals suffer from emotional difficulties following this procedure, most adapt ...
Coffey, Laura
core   +2 more sources

Identification of the orphan gene Prod 1 in basal and other salamander families. [PDF]

, 2015
The urodele amphibians (salamanders) are the only adult tetrapods able to regenerate the limb. It is unclear if this is an ancestral property that is retained in salamanders but lost in other tetrapods or if it evolved in salamanders.
Garza-Garcia, A, Kumar, A, Zhang, P, Brockes, JP, Kuenne, C, Guenther, S, Gates, PB, Geng, J, Looso, M   +8 more
core  

Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey, S. H. Subramony, David R. Lynch, Louise A. Corben, Martin B. Delatycki, Jörg B. Schulz, Kathrin Reetz, Massimo Pandolfo, Matthis Synofzik, Theresa Zesiewicz, Antoine Duquette, Matthew Burns, Martin Vyhnálek, Lucie Stovickova, Sinead M. Murphy, Petya Bogdanova‐Mihaylova, Mary Kearney, Richard Walsh, Richard H. Roxburgh, Khalaf Bushara, Marie Y. Davis, Enrico S. Bertini, Gessica Vasco, Shweta Sahni, Mohammed Faruq, Achal K. Srivastava, Bart van de Warrenburg, Elisabetta Indelicato, Sylvia Boesch, Andrew Billnitzer, Tetsuo Ashizawa, Anoopum S. Gupta, Grace Yoon, Georgios Koutsis, Chrysoula Koniari, Zofia Fleszar, Christopher M. Gomez, Andrea Martinuzzi, Gabriella Paparella, Ali G. Hamedani, Puneet Opal, Rizwan S. Akhtar, Caterina Mariotti, Henry Paulson, Peter Todd, Sharan R. Srinivasan, George Wilmot, Ludger Schöls, Susan Perlman, Jeremy D. Schmahmann, Sheng‐Han Kuo, Liana S. Rosenthal, Vikram G. Shakkottai   +52 more
wiley   +1 more source

PHANTOM LIMBS [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1948
W R, HENDERSON, G E, SMYTH
openaire   +2 more sources

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Digital three-dimensional planning combined with 3D-printed patient-specific guide-assisted step-cut osteotomy for correction of old cubitus varus deformity: a case report

Frontiers in Surgery
Cubitus varus is the most common long-term complication following supracondylar humeral fractures. Although traditional step-cut osteotomy yields reliable clinical outcomes, the intraoperative osteotomy direction and angle remain largely dependent on the
Xiaofan Huang, Fulin Tang, Jialin Zhuang, Weikun Li   +3 more
doaj   +1 more source

Serostatus‐Specific Prognostic Profiles and Phenotype‐Dependent Therapeutic Windows in Autoimmune Encephalitis: A Multicenter Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background While autoimmune encephalitis (AE) outcomes vary, serostatus‐specific prognostic determinants and institutional clustering effects remain poorly characterized. We aimed to delineate the distinct prognostic architecture of AE, identifying serostatus‐specific risk factors and potential therapeutic windows.
Xiaohong Tang, Jingxian Wang, Kaixin Zhu, Zhen Zhang, Liao Wu, Wei Wang, Chang Li, Qingyun Li, Hao Li, Jinghua Chen, Zhangxu Lian, Bin Liu, Tengfei Liu, Chunmei Wen, Nuan Wang, Sen Qun, Lishun Xiao, Qingwei Lai   +17 more
wiley   +1 more source

The diagnostic X-ray exposure technique guidelines for elephants’ limbs in Elephant Hospital, Thai Elephant Conservation Center, Thailand

Journal of Associated Medical Sciences, 2018
Background: Radiographic image is the first of choice for diagnosing complications involving elephants’ limbs. The extreme thickness of their limbs causes inaccurate image quality.
Chatchanok Udomtanakunchai, Sirijan Lawongwan, Sasithorn Tasomkan, Pornsawan Pongsopawijit, Warangkhana Langkaphin   +4 more
doaj