Výsledky vyhledávání - "Ilaria, Amato"

Training of primary care physicians enhances performance of mobile teledermatology

Autor: Giovanni Biondo, Cesare Massone, Ilaria Amato, Alexandra Maria Giovanna Brunasso, Rainer Hofmann-Wellenhof, Sanja Javor

Publikováno v: Anais Brasileiros de Dermatologia, Vol 96, Iss 4, Pp 514-516 (2021)
Anais Brasileiros de Dermatologia
Anais Brasileiros de Dermatologia, Volume: 96, Issue: 4, Pages: 514-516, Published: 02 AUG 2021

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f87c02a40351915d3ea9bf96b045c7e
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962021000400514&tlng=en

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Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A

Autor: Raffaella Lombardi, Giuseppe Lauria, Evren Gumus, Margherita Marchi, Mirna Andelic, Ilaria D'Amato, Daniele Cartelli, Erika Salvi

Publikováno v: Pain, 163(7), E882-E887. LIPPINCOTT WILLIAMS & WILKINS

Mutations in the alpha subunit of voltage-gated sodium channel 1.7 (NaV1.7), encoded by SCN9A gene, play an important role in the regulation of nociception and can lead to a wide range of clinical outcomes, ranging from extreme pain syndromes to cong

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a104cbedf52ae48190462c68b38e849
https://pubmed.ncbi.nlm.nih.gov/34799533

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A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia

Autor: Ilaria D'Amato, Vincenzo Provitera, Monique M. Gerrits, Simona Maccora, Margherita Marchi, Erika Salvi, Maria Nolano, Giuseppe Lauria, Lucio Santoro, Marcello Romano

Publikováno v: Journal of the Peripheral Nervous System
Journal of the Peripheral Nervous System, 23(3), 202-206. Wiley

Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder presenting with a spectrum of clinical features caused by mutations in different genes. A 10-year-old girl with CIP, hyposmia and hypogeusia, and her unaffected twin and pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::144c96f97479bc46ba1b73eae2ca2aa3

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Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

Autor: Dario Brunetti, Carla Giordano, Fabio Moda, Giulia d'Amati, Sabrina Dusi, Michela Morbin, Ilaria D'Amato, Susan J. Hayflick, Valeria Tiranti, Anna Cozzi, Sonia Levi, Andrea Uggetti

Publikováno v: Human Molecular Genetics; Vol 21
Human Molecular Genetics

Neurodegeneration with brain iron accumulation (NBIA) comprises a group of neurodegenerative disorders characterized by high brain content of iron and presence of axonal spheroids. Mutations in the PANK2 gene, which encodes pantothenate kinase 2, und

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48e1e9a1dbc65954d9ddc727104ec572

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Effects of age on parathyroid hormone signaling in human marrow stromal cells

Autor: Ilan Bleiberg, Sung Won Kim, Julie Glowacki, Paul Morley, Jochen Hahne, Longxiang Shen, Shuanhu Zhou, Ilaria Amato, Ericka M. Bueno

Publikováno v: Aging Cell. 10:780-788

Summary Human bone marrow stromal cells (hMSCs) have the potential to differentiate into osteoblasts; there are age-related decreases in their proliferation and differentiation to osteoblasts. Parathyroid hormone (PTH), when applied intermittently in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2563a7fafb31d8bf7669cfd66cffd4a4
https://doi.org/10.1111/j.1474-9726.2011.00717.x

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