Search Results - "Scotton, C"

Dissecting phenotypic traits linked to human resilience to Alzheimer's pathology by PEREZ-NIEVAS, Beatriz G, STEIN, Thor D, SERRANO-POZO, Alberto, FROSCH, Mathew P, LOWE, Val, PARISI, Joseph E, PETERSEN, Ronald C, IKONOMOVIC, Milos D, LOPEZ, Oscar L, KLUNK, William, HYMAN, Bradley T, GOMEZ-ISLA, Teresa, TAI, Hwan-Ching, DOLS-ICARDO, Oriol, SCOTTON, Thomas C, BARROETA-ESPAR, Isabel, FERNANDEZ-CARBALLO, Leticia, LOPEZ DE MUNAIN, Estibaliz, PEREZ, Jesus, MARQUIE, Marta

“…Clinico-pathological correlation studies and positron emission tomography amyloid imaging studies have shown that some individuals can tolerate substantial…”
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Corrigendum to: “Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression”. [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138–1147.] by Gherardi, S., Bovolenta, M., Passarelli, C., Falzarano, M.S., Pigini, P., Scotton, C., Neri, M., Armaroli, A., Osman, H., Selvatici, R., Gualandi, F., Recchia, A., Mora, M., Bernasconi, P., Maggi, L., Morandi, L., Ferlini, A., Perini, G.

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Intrinsic defence capacity and therapeutic potential of natriuretic peptides in pulmonary hypertension associated with lung fibrosis by Baliga, R S, Scotton, C J, Trinder, S L, Chambers, R C, MacAllister, R J, Hobbs, A J

“…Background and Purpose Idiopathic pulmonary fibrosis (IPF) is a progressive fibro‐proliferative disorder refractory to current therapy commonly complicated by…”
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Biomarkers in rare diseases by Ferlini, A, Scotton, C, Novelli, G

“…Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has…”
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Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients by Voermans, N C, Laan, A E, Oosterhof, A, van Kuppevelt, T H, Drost, G, Lammens, M, Kamsteeg, E J, Scotton, C, Gualandi, F, Guglielmi, V, van den Heuvel, L, Vattemi, G, van Engelen, B G

“…Brody disease is a rare inherited myopathy due to reduced sarcoplasmic reticulum Ca(2+) ATPase (SERCA)1 activity caused by mutations in ATP2A1, which causes…”
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A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation by Neri, M, Selvatici, R, Scotton, C, Trabanelli, C, Armaroli, A, De Grandis, D, Levy, N, Gualandi, F, Ferlini, A

“…Abstract Limb girdle muscular dystrophy 2H is a rare autosomal recessive muscular dystrophy, clinically highly variable, caused by mutations in the TRIM32…”
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The Rg1 allele as a valuable tool for genetic transformation of the tomato 'Micro-Tom' model system by Pino, Lilian E, Lombardi-Crestana, Simone, Azevedo, Mariana S, Scotton, Danielle C, Borgo, Lucélia, Quecini, Vera, Figueira, Antonio, Peres, Lázaro Ep

“…The cultivar Micro-Tom (MT) is regarded as a model system for tomato genetics due to its short life cycle and miniature size. However, efforts to improve…”
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A novel phenotype associated with STIM1 gene: A case report of a patient with a painful myopathy by Neri, M, Harris, E, Scotton, C, Topf, A, Fang, M, Wang, J, Barresi, R, Lochmüller, H, Straub, V, Ferlini, A

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RNA profiling discloses a link between circadian genes and muscle damage in Duchenne Muscular Dystrophy by Scotton, C, Armaroli, A, Osman, H, Falzarano, M, Capogrosso, R, Cozzoli, A, Camerino, G, De Luca, A, Ferlini, A

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Genetic landscapes in neuromuscular disorders: The influence of next-generation sequencing analysis by Neri, M, Scotton, C, Gualandi, F, Wirth, B, Schols, L, Klockgether, T, Lochmuller, H, Muntoni, F, D'Amico, A, Bertini, E, Pane, M, Mercuri, E, Ferlini, A

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Isolation and characterization of human urinary stem cells from healthy donors and DMD patients as in vitro cell model for functional studies and drug testing by Falzarano, M, D'Amario, D, Osman, H, Siracusano, A, Scotton, C, Maroni, C, Massetti, M, Amodeo, A, Mercuri, E, Manchi, M, Crea, F, Ferlini, A

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RNA profiling discloses a link between circadian genes and muscle damage in Duchenne muscular dystrophy by Armaroli, A, Scotton, C, Osman, H, Falzarano, M, Capogrosso, R, Cozzoli, A, Camerino, G, Schwartz, E, De Luca, A, Ferlini, A

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Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools by Scotton, C, Schwartz, E, Falzarano, M, Bovolenta, M, Rossi, R, Armaroli, A, Osman, H, Gualandi, F, Neri, M, Lochmuller, H, Pesole, G, Sabatelli, P, Merlini, L, Bonaldo, P, Muntoni, F, Gelfi, C, Lebowitz, M, Esser, K, Ferlini, A

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Analysis of CC chemokine and chemokine receptor expression in solid ovarian tumours by SCOTTON, C, MILLIKEN, D, WILSON, J, RAJU, S, BALKWILL, F

“…To understand the chemokine network in a tissue, both chemokine and chemokine receptor expression should be studied. Human epithelial ovarian tumours express a…”
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Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction by Scotton, C, Italyankina, E, Storbeck, M, Vezyroglou, K, Heller, R, Neri, M, Di Raimo, F, Mauro, A, Tugnoli, V, Timmerman, V, Wirth, B, De Grandis, D, Gualandi, F, Ferlini, A

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White matter injury due to experimental chronic cerebral hypoperfusion is associated with C5 deposition by Liu, Qinghai, He, Shuhan, Groysman, Leonid, Shaked, David, Russin, Jonathan, Scotton, Thomas C, Cen, Steven, Mack, William J

“…The C5 complement protein is a potent inflammatory mediator that has been implicated in the pathogenesis of both stroke and neurodegenerative disease…”
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Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy by Neri, M, Scotton, C, Scapoli, C, Carrieri, A, Di Raimo, F, Bovolenta, M, Gherardi, S, Armaroli, A, Passarelli, C, D'Amico, A, Bertini, E, Pane, M, Mercuri, E, Pesole, G, Wenyan, L, Mingyan, F, Gualandi, F, Schwartz, E, Yuryev, A, Ferlini, A

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D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia by Neri, M, Bovolenta, M, Scotton, C, De Grandis, D, Castrignanò, T, Dallapiccola, B, Gualandi, F, Ferlini, A

“…Abstract We studied a family of four with a form of juvenile Parkinson, cognitive impairment, ataxia, and obesity, with variable clinical severity. Many genes…”
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G.P.15 Whole transcriptome expression profiling in COL6a1 null mice shows deregulation of circadian clock genes as exploratory COL6 myopathies biomarkers by Bovolenta, M, Scotton, C, Bonaldo, P, Bernardi, P, Grumati, P, Gualandi, F, Schwartz, E, Daraselia, N, Kotelnikova, E, Ferlini, A

“…Abstract Collagen VI is an extracellular matrix protein that forms a microfilamentous network in skeletal muscles and other organs. In humans, mutations in the…”
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P5.75 High throughput diagnosis of neuromuscular diseases: the NMD-CHIP EU project by Neri, M, Scotton, C, Vattemi, G, Merlini, L, Gualandi, F, Levy, N, Ferlini, A

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