Results 81 to 90 of about 11,333 (226)

Amyotrophic Lateral Sclerosis [PDF]

, 2019
The word amyotrophic is derived from Greek, and means “without nourishment to muscles”, lateral means to the sides and sclerosis means hardened (“What is ALS?,” n.d.).
Georgetson, Anastasia M.
core   +1 more source

Androgen receptor mutations [PDF]

, 1995
Male sexual differentiation and development proceed under direct control of androgens. Androgen action is mediated by the intracellular androgen receptor, which belongs to the superfamily of ligand-dependent transcription factors.
Boehmer, A.L.M. (Annemie), Brinkmann, A.O. (Albert), Brüggenwirth, H.T. (Hennie), Jenster, G.W. (Guido), Korput, J.A.G.M. (J. A G M) van der, Ris-Stalpers, C. (Carolyn), Trapman, J. (Jan)   +6 more
core   +1 more source

Disentangling balance impairments in spinal and bulbar muscular atrophy

Neuroscience Letters, 2019
Spinal and bulbar muscular atrophy (Kennedy's disease) has been associated with balance dysfunction and falls. However, postural control has not been studied quantitatively. Here, we quantified upright stance and aimed to disentangle the role of vestibular, proprioceptive and oculomotor deficits.
Anagnostou, E., Zachou, A., Breza, M., Kladi, A., Karadima, G., Koutsis, G.   +5 more
openaire   +3 more sources

Guidelines for Essential Trauma Care: Second Edition (2026)

World Journal of Surgery, EarlyView.
Injury is a major cause of death and disability globally, with the highest burden in low‐ and middle‐income countries (LMICs). Strengthening the organization and planning for trauma care (care of the injured) can improve care and lower mortality. In 2004, the International Association for Trauma Surgery and Intensive Care (IATSIC) and the World Health ...
Charles Mock, Timothy C. Hardcastle, Christine Gaarder, Amit Gupta, Adam Gyedu, Manjul Joshipura, Elmin Steyn, on behalf of the Essential Trauma Care revision author group, Valencia Adjei, Roger Alcock, Vanda Amado, Michael Boampong, Sanjeev Booi, Petra Brysiewicz, Corazon Cabanilla‐Manuntag, Cristiane de Alencar Domingues, Ghada Elhadari, Ranjith Nanda Ellawala, Sarnai Erdene, Ama Akoma Essuman, Jorge Esteban Foianini, Filippo Gatti, Armando Garcia Guererra, Greg Hynes, Adil Haider, Sandy Ingless, Balavenkata Jagannathan, Helen Jowett, Knut Magne Kolstadbråten, Sonja Krofak, Aireen Patricia Madrid, Tina Tomić Mahečić, Claude Martin, Daniel Ntogwrachu, Bisola Onajin‐Obembe, Nhobojit Roy, Andres Rubiano, Niisoja Mensah Torto, Ben Wachira, Meg Walmsley, Torben Wisborg, Elma Wong   +41 more
wiley   +1 more source

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients. [PDF]

, 2016
Peer ...
Auranen, Mari, Jokela, Manu, Lähdesmäki, Janne, Palmio, Johanna, Penttilä, Sini, Sandell, Satu, Saukkonen, Anna Maija, Shcherbii, Mariia, Toivanen, Jari, Tyynismaa, Henna, Udd, Bjarne, Ylikallio, Emil   +11 more
core   +1 more source

Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy [PDF]

Neurology, 2017
To determine the prevalence and features of fatty liver disease in spinal and bulbar muscular atrophy (SBMA).Two groups of participants with SBMA were evaluated. In the first group, 22 participants with SBMA underwent laboratory analysis and liver imaging.
Guber, Robert D., Takyar, Varun, Kokkinis, Angela, Fox, Derrick A., Alao, Hawwa, Kats, Ilona, Bakar, Dara, Remaley, Alan T., Hewitt, Stephen M., Kleiner, David E., Liu, Chia-Ying, Hadigan, Colleen, Fischbeck, Kenneth H., Rotman, Yaron, Grunseich, Christopher   +14 more
openaire   +2 more sources

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

Functional Implications of Protein Arginine Methyltransferases (PRMTs) in Neurodegenerative Diseases

Biology, 2023
During the aging of the global population, the prevalence of neurodegenerative diseases will be continuously growing. Although each disorder is characterized by disease-specific protein accumulations, several common pathophysiological mechanisms ...
Efthalia Angelopoulou, Efstratios-Stylianos Pyrgelis, Chetana Ahire, Prachi Suman, Awanish Mishra, Christina Piperi   +5 more
doaj   +1 more source

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, EarlyView.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito   +19 more
wiley   +1 more source