Results 101 to 110 of about 4,882 (214)

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene [PDF]

, 2015
Episodic ataxia type 1 (EA1) is an autosomal dominant K+ channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia.
Arning, Larissa, Bernasconi, Pia, Biskup, Saskia, Catacuzzeno, Luigi, D'Adamo, Maria Cristina, Di Giovanni, Giuseppe, Franciolini, Fabio, Gallenmuller, Constanze, Grottesi, Alessandro, Guglielmi, Luca, Hartl, Elisabeth, Imbrici, Paola, Klopstock, Thomas, Pessia, Mauro, Servettini, Ilenio, Tucker, Stephen J.   +15 more
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Microparticles Made with Silk Proteins for Melanoma Adjuvant Therapy

Gels
Melanoma is one of the most aggressive forms of skin cancer, which is characterized by metastasis and poor prognosis due to the limited effectiveness of current therapies and the toxicity of conventional drugs. For this reason and in recent years, one of
Sonia Trombino, Roberta Sole, Federica Curcio, Rocco Malivindi, Daniele Caracciolo, Silvia Mellace, Dino Montagner, Roberta Cassano   +7 more
doaj   +1 more source

The polyphenolic and hydroxycinnamate contents of whole coffee fruits from China, India and Mexico [PDF]

, 2013
Air dried whole coffee fruits, beans and husks from China, India and Mexico were analysed for their chlorogenic acids (CGA), caffeine, and polyphenolic content. Analysis was by HPLC and Orbitrap exact mass spectrometry.
Combet, E., Mullen, W., Nemzer, B., Sidrah, A., Stalmach, A.   +4 more
core   +1 more source

Pathophysiological features of chronic cerebrovascular diseases and possibilities of complex neuroprotective therapy

Медицинский совет, 2019
The article discusses the principles of neuroprotective therapy as a pathogenetically justified direction in chronic cerebrovascular diseases (CVD). The results of numerous clinical trials demonstrated efficacy, safety, a wide range of pharmacological ...
E. V. Kostenko, L. V. Petrova
doaj   +1 more source

Nuevas terapias para la neuropatía óptica hereditaria de Leber [PDF]

, 2016
La neuropatía óptica hereditaria de Leber es una enfermedad rara ligada al ADN mitocondrial, de manera que es transmitida verticalmente de madres a hijos.
Lora Domínguez, Paula Carla
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Assessment and management of respiratory function in patients with duchenne muscular dystrophy: Current and emerging options [PDF]

, 2015
Duchenne muscular dystrophy (DMD) is an X-linked myopathy resulting in progressive weakness and wasting of all the striated muscles including the respiratory muscles.
ALIVERTI, ANDREA, D’Angelo, Maria Grazia, LO MAURO, MARIA ANTONELLA   +2 more
core   +2 more sources

Molecular effects of Idebenone

, 2012
Summary: Idebenone is a synthetic compound which shares analogous structures with coenzyme Q10 (CoQ10). It has been shown to attenuate the pathology of disorders with a mitochondrial phenotype or increased levels of oxidative damage. Not surprisingly, idebenone was primarily associated with antioxidant function and interaction with enzymes of the ...
openaire   +3 more sources

Patient-derived lymphoblastoid cell lines harboring mitochondrial DNA mutations as tool for small molecule drug discovery

BMC Research Notes, 2018
Objective Mitochondrial diseases are a group of devastating disorders for which there is no transformative cure. The majority of therapies for mitochondrial disease—approved, previously tested, or currently in development—are small molecules.
Randall Marcelo Chin, Tadas Panavas, Jeffrey M. Brown, Krista K. Johnson   +3 more
doaj   +1 more source

Idebenone Orchestrates Anti-Inflammatory and Antioxidant Responses to Alleviate Brain Injury After Intracerebral Hemorrhage in Mice

Journal of Integrative Neuroscience
Background: Intracerebral hemorrhage (ICH) is a critical form of stroke with limited treatment options, with secondary brain injury significantly affecting patient outcomes.
Chen Chen, Liang Cao, Mengzhou Xue, Ning Zhu   +3 more
doaj   +1 more source

Bases moleculares de la neuropatía óptica hereditaria de leber [PDF]

, 2016
La neuropatía óptica hereditaria de Leber (NOHL) se encuentra entre las neuropatías heredadas de forma materna más comunes y fue la primera enfermedad mitocondrial descrita, causando una pérdida de visión bilateral con mayor prevalencia en los varones ...
Márquez Quidiello, María Teresa
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