Results 81 to 90 of about 2,493,194 (370)

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

Detection of Metabolites by Proton Ex Vivo NMR, in Vivo MR Spectroscopy Peaks and Tissue Content Analysis: Biochemical-Magnetic Resonance Correlation: Preliminary Results [PDF]

, 2009
*Aim*: Metabolite concentrations by in vivo magnetic resonance spectroscopy and ex vivo NMR spectroscopy were compared with excised normal human tissue relaxation times and tissue homogenate contents. *Hypothesis*: Biochemical analysis
Arun Agrawala, Madan Rehani, Rakesh Sharma   +2 more
core   +1 more source

Tissue eosinophilia and eosinophil degranulation in Riedel's invasive fibrous thyroiditis. [PDF]

, 1996
The etiology of Riedel's invasive fibrous thyroiditis (IFT) has remained obscure. This rare disorder has been confused in the past with the more common fibrous variant of Hashimoto's disease.
Bahn, R. S., Gleich, G. J., Goellner, J. R., Hay, I. D., Heufelder, Armin E.   +4 more
core   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Development of a Non-invasive Methodology for the Assessment of Muscle Fibre Composition

Frontiers in Physiology, 2019
The percentage area of fast twitch fibres of a muscle is a major determinant of muscle mechanical power and, thus, an important biomarker for the evaluation of training processes.
Tobias Winkler, Tobias Winkler, Falk Mersmann, Falk Mersmann, Philipp von Roth, Ralf Dietrich, Stefanie Bierbaum, Adamantios Arampatzis, Adamantios Arampatzis   +8 more
doaj   +1 more source

Oral health in two heterozygote female twins with congenital lactic acidosis [PDF]

, 2017
Introduction: Congenital lactic acidosis (CLA) is a rare disease caused by mutations in Mithocondrial DNA (mtDNA), which affects the ability of cells to use energy that causes accumulation of lactic acid in the body.
GUERRA, Fabrizio, MAZUR, MARTA DANUTA, Ndokaj, Artnora, OTTOLENGHI, Livia, PIZZUTI, Antonio   +4 more
core   +1 more source

Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira, Xu Zhang, Takayuki Fujii, Mikio Mitsuishi, Miho Ushijima, Sato Yoshidomi, Ayako Sakoda, Tomohiro Imamura, Satoshi Kuwabara, Noriko Isobe, Yuri Nakamura   +10 more
wiley   +1 more source

Blocking CD248 molecules in perivascular stromal cells of patients with systemic sclerosis strongly inhibits their differentiation toward myofibroblasts and proliferation: A new potential target for antifibrotic therapy [PDF]

, 2018
Background: Fibrosis may be considered the hallmark of systemic sclerosis (SSc), the end stage triggered by different pathological events. Transforming growth factor-β (TGF-β) and platelet-derived growth factor BB (PDGF-BB) are profibrotic molecules ...
Berardicurti O., Carubbi F., Ciccia F., Cipriani P., Di Bartolomeo S., Di Benedetto P., Giacomelli R., Guggino G., Liakouli V., Panzera N., Ruscitti P., Triolo G.   +11 more
core   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]

, 2016
Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal, Al-Qusairi, Al-Qusairi, Amoasii, Bach, Balla, Bansal, Beggs, Bevilacqua, Bitoun, Blondelle, Blot, Bohm, Bohm, Boncompagni, Buj-Bello, Butler, Caroline Sewry, Carozzi, Ceyhan-Birsoy, Cowling, Cowling, D'Alessandro, Denic, Dowling, Dowling, Dubowitz, Durieux, Durieux, Falcone, Fanny Pilot-Storck, Ferguson, Franzini-Armstrong, Fugier, Gemma L. Walmsley, Hamanaka, Helland, Hnia, Hnia, Ikeda, Inès Barthélémy, Jocelyn Laporte, Jordan Blondelle, Joubert, Jungbluth, Jungbluth, Jungbluth, Kerrie Venner, Kihara, Kihara, Klinge, Kramer, Laporte, Laurent Tiret, Lawlor, Lee, Lin, Majczenko, Manta, Marie Maurer, Maurer, McKerrell, McKerrell, Metzger, Molino, Muhammad, Nicolas Blanchard-Gutton, Nicot, Nishimura, Nori, Olby, Parton, Pelé, Pfaffl, Picas, Razzaq, Richard J. Piercy, Romero, Romero, Royer, Sabbadini, Schneiter, Shelton, Shichiji, Sinha, Strbenc, Stéphane Blot, Tiret, Tjondrokoesoemo, Toussaint, Uwanogho, Walmsley, Zhou   +92 more
core   +3 more sources