Results 21 to 30 of about 133 (131)

Benign Idiopathic Myoclonus: A New Clinical Entity?

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Myoclonus is a brief shock‐like, involuntary movement, which can be distinguished in physiologic, essential, epileptic, and symptomatic, according to its etiology. Physiologic myoclonus typically occurs in healthy people without disability or progression.
Giorgia Sciacca, A.M. Madelein van der Stouwe, Sterre van der Veen, Hendriekje Eggink, Martje E. van Egmond, Jan Willem J. Elting, Marina A.J. Tijssen   +6 more
wiley   +1 more source

Leigh’s Disease in 3 Sibs of a Kuwaiti Family [PDF]

Medical Principles and Practice, 2002
<i>Objective and Importance:</i> To describe Leigh’s disease in 3 sibs of a Kuwaiti family. <i>Case Presentation:</i> Two brothers presented in early infancy with progressive neurological symptoms of hypotonia, delayed milestones and brisk reflexes.
Hessa Habeeb, Majedah Abdul-Rasoul, Muneera Al-Adwani, Maliha Al-Bouloshi, Ali Mousa, Hanan Al-Qatan, Yousif Habeeb   +6 more
openaire   +3 more sources

Leigh's disease: significance of the biochemical changes in brain. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1975
Analysis of five brains from patients with Leigh's disease demonstrates an accumulation of thiamine pyrophosphate and a deficiency of thiamine triphosphate. The enzyme which converts thiamine pyrophosphate to thiamine triphosphate was normally active in two of these brains, suggesting that the inhibitor found in Leigh's disease is probably producing ...
L Craig, J V Murphy
openaire   +3 more sources

Necrotising haemorrhagic encephalomyelopathy in an adult: Leigh's disease. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1987
A 21 year old male, well-nourished and non-alcoholic, died after five weeks illness. He had suffered epileptic fits, bilateral internuclear ophthalmoplegia, bulbar and pontine paralysis, tetraparesia, ataxia and dystonia. A CT brain scan showed low density lesions of the striatum bilaterally.
T Tuñón, Delgado G, Villanueva Ja, J J Zarranz, Gállego J   +4 more
openaire   +3 more sources

Brain Networks Route Neurodegeneration Patterns in Patients with Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Progressive supranuclear palsy (PSP) is a neurodegenerative disease driven by 4‐repeat τ pathology, which is thought to propagate across interconnected neurons. Objectives We hypothesized that interconnected brain regions exhibit correlated atrophy, and that atrophy propagates network‐like from fast‐declining epicenters to connected
Carla Palleis, Andrea Quattrone, Amir Dehsarvi, Sebastian N. Roemer‐Cassiano, Alexander M. Bernhardt, The AL‐108‐231 Investigators, the PASSPORT Study Group, Ikuko Aiba, Angelo Antonini, Diana Apetauerova, Jean‐Philippe Azulay, Ernest Balaguer Martinez, Jee Bang, Paolo Barone, Matthew Barrett, Danny Bega, Daniela Berg, Koldo Berganzo Corrales, Yvette Bordelon, Adam L Boxer, Moritz Brandt, Norbert Brueggemann, Giovanni Castelnovo, Roberto Ceravolo, Rosalind Chuang, Sun Ju Chung, Alistair Church, Jean‐Christophe Corvol, Paola Cudia, Marian Dale, Luc Defebvre, Sophie Drapier, Erika D Driver‐Dunckley, Georg Ebersbach, Karla M Eggert, Aaron Ellenbogen, Alexandre Eusebio, Andrew H Evans, Natalia Fedorova, Elizabeth Finger, Alexandra Foubert‐Samier, Boyd Ghosh, Lawrence Golbe, Francisco Grandas Perez, Murray Grossman, Deborah Hall, Kyoko Hamada, Kazuko Hasegawa, Guenter Hoeglinger, Lawrence Honig, David Houghton, Xuemei Huang, Stuart Isaacson, Jaime Kulisevsky Bojarski, Anthony E. Lang, Peter Nigel Leigh, Biomedical Research, Irene Litvan, Juan Jose Lopez Lozano, Jose Luis Lopez‐Sendon Moreno, Albert Christian Ludolph, Ma Rosario Luquin Piudo, Irene Martinez Torres, Nikolaus McFarland, Wassilios Meissner, Tiago Mestre, Pablo Mir Rivera, Eric Molho, Britt Mollenhauer, Huw R Morris, Miho Murata, Tomokazu Obi, Fabienne Ory Magne, Padraig O'Suilleabhain, Rajesh Pahwa, Alexander Pantelyat, Nicola Pavese, Dmitry Pokhabov, Johannes Prudlo, Federico Rodriguez‐Porcel, James Rowe, Joseph Savitt, Alfons Schnitzler, Joerg B Schulz, Klaus Seppi, Binit Shah, Holly Shill, David Shprecher, Maria Stamelou, Malcolm Steiger, Yuji Takahashi, Hiroshi Takigawa, Carmela Tartaglia, Lars Toenges, Kardiologische Studienambulanz, Daniel Truong, Winona Tse, Paul Tuite, Dieter Volc, Anne‐Marie A Wills, Dirk Woitalla, Tao Xie, Tatsuhiko Yuasa, Sarah Elizabeth Zauber, Theresa Zesiewicz, David Williams, Anne Louise Lafontaine, Connie Marras, Mandar Jog, Michael Panisset, Anthony Lang, Lesley Parker, Alistair J. Stewart, Jean‐Christophe Corvol, Jean‐Philippe Azulay, Philippe Couratier, Brit Mollenhauer, Stefan Lorenzl, Albert Ludolph, Reiner Benecke, Günter Höglinger, Axel Lipp, Heinz Reichmann, Dirk Woitalla, Dennis Chan, Adam Zermansky, David Burn, Andrew Lees, Adam Boxer, Bruce L. Miller, Iryna V. Lobach, Erik Roberson, Lawrence Honig, Edward Zamrini, Rajesh Pahwa, Yvette Bor‐delon, Erika Driver‐Dunkley, Stephanie Lessig, Mark Lew, Kyle Womack, Brad Boeve, Joseph Ferrara, Argyle Hillis, Daniel Kaufer, Rajeev Kumar, Tao Xie, Steven Gunzler, Theresa Zesiewicz, Praveen Dayalu, Lawrence Golbe, Murray Grossman, Joseph Jancovic, Scott McGinnis, Anthony Santiago, Paul Tuite, Stuart Isaacson, Julie Leegwater‐Kim, Irene Litvan, Murray Grossman, David S. Knopman, Bruce L. Miller, Lon S. Schneider, Rachelle S. Doody, Lawrence I. Golbe, Erik D. Roberson, Mary Koestler, Clifford R. Jack, Viviana Van Deerlin, Christopher Randolph, Iryna V. Lobach, Illana Gozes, Steve Whitaker, Joe Hirman, Michael Gold, Bruce H. Morimoto, Hans‐Jürgen Huppertz, Maura Malpetti, Adam L. Boxer, Johannes Gnörich, Lukas Frontzkowski, Johannes Levin, Matthias Brendel, Günter U. Höglinger, Nicolai Franzmeier   +183 more
wiley   +1 more source

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

Two Hundred Years of the Annals of the New York Academy of Sciences: A Bibliometric Overview

Natural Sciences, EarlyView.
Co‐occurrence of author keywords. ABSTRACT Founded in 1824, the Annals of the New York Academy of Sciences (ANYAS) is a distinguished international journal that embraces various scientific disciplines. In 2024, the journal marks its 200th anniversary.
Luciano Barcellos‐Paula, José M. Merigó, Anna M. Gil‐Lafuente   +2 more
wiley   +1 more source

Tissue‐Specific Regulation of Fatty Acid Metabolism in a Mouse Model of Isolated Complex I Deficiency

PROTEOMICS, EarlyView.
ABSTRACT Isolated complex I deficiency (ICD) is commonly associated with mitochondrial diseases and closely mimics subacute necrotising encephalomyelopathy. This disorder is characterised by metabolic perturbations that affect energy metabolism pathways, including fatty acid metabolism.
Sibonelo Glen Khumalo, Jeremie Zander Lindeque, Marianne Venter   +2 more
wiley   +1 more source

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

A Smithian Political Economy Approach for the Competition Law of the 21st Century

The Modern Law Review, EarlyView.
This study aims to show how a Smithian political economy approach could assist competition law in addressing the challenges of the 21st‐century economy. We revisit Smith's Wealth of Nations to provide a more nuanced understanding of his views, contrasting them with the prevailing libertarian interpretation called here ‘Chicago Smith’.
Stavros Makris
wiley   +1 more source