Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Valentina, Emmanuele"'
Autor:
Caterina Garone, Beatriz Garcia‐Diaz, Valentina Emmanuele, Luis C Lopez, Saba Tadesse, Hasan O Akman, Kurenai Tanji, Catarina M Quinzii, Michio Hirano
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 8, Pp 1016-1027 (2014)
Abstract Autosomal recessive mutations in the thymidine kinase 2 gene (TK2) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme activity and ensuing unbalanced deoxynucleotide triphosphate (dNTP) pools. To bypass
Externí odkaz:
https://doaj.org/article/c1edaf59ac554056b5d66fcc031a0582
Autor:
Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo
Publikováno v:
Neurology Genetics. 9:e200058
Background and ObjectivesCoenzyme Q10(CoQ10)–deficient cerebellar ataxia can be due to pathogenic variants in genes encoding for CoQ10biosynthetic proteins or associated with defects in protein unrelated to its biosynthesis. Diagnosis is crucial be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::973693f010699997029e27dee1d92bd8
https://doi.org/10.1212/nxg.0000000000200058
https://doi.org/10.1212/nxg.0000000000200058
Autor:
Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, Richard Haas, Douglas Kerr, Russell P. Saneto, Bruce H. Cohen, Johan Van Hove, Fernando Scaglia, Charles Hoppel, Xiomara Q. Rosales, Emanuele Barca, Richard Buchsbaum, John L. Thompson, Salvatore DiMauro, Michio Hirano
Publikováno v:
Mol Genet Metab
OBJECTIVE: To harmonize terminology in mitochondrial medicine, we propose revised clinical criteria for primary mitochondrial syndromes. METHODS: The North American Mitochondrial Disease Consortium (NAMDC) established a Diagnostic Criteria Committee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e71d657fc56a25cafc54472d437d7d19
https://europepmc.org/articles/PMC9341219/
https://europepmc.org/articles/PMC9341219/
Autor:
Rishi R, Agrawal, Delfina, Larrea, Yimeng, Xu, Lingyan, Shi, Hylde, Zirpoli, Leslie G, Cummins, Valentina, Emmanuele, Donghui, Song, Taekyung D, Yun, Frank P, Macaluso, Wei, Min, Steven G, Kernie, Richard J, Deckelbaum, Estela, Area-Gomez
Publikováno v:
Cellular and molecular neurobiology.
Traumatic brain injury (TBI) can lead to neurodegenerative diseases such as Alzheimer's disease (AD) through mechanisms that remain incompletely characterized. Similar to AD, TBI models present with cellular metabolic alterations and modulated cleava
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4629d395a6236709d40a2447d21de976
https://pubmed.ncbi.nlm.nih.gov/36571634
https://pubmed.ncbi.nlm.nih.gov/36571634
Publikováno v:
J Neurol
Leber hereditary optic neuropathy (LHON) typically presents as painless central or centrocecal scotoma and is due to maternally inherited mitochondrial DNA (mtDNA) mutations. Over 95% of LHON cases are caused by one of three mtDNA “common” point
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f6c19e34f91a79fa7311be1a88a0683
https://doi.org/10.1007/s00415-019-09619-z
https://doi.org/10.1007/s00415-019-09619-z
Publikováno v:
Curr Opin Neurol
PURPOSE OF REVIEW: Although mitochondrial diseases impose a significant functional limitation in the lives of patients, treatment of these conditions has been limited to dietary supplements, exercise, and physical therapy. In the past few years, howe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61b614c828f6b364ab3524976ca26b75
https://doi.org/10.1097/wco.0000000000000743
https://doi.org/10.1097/wco.0000000000000743
Publikováno v:
Mitochondrial Diseases ISBN: 9783030701468
Therapies for mitochondrial diseases has been largely limited to supportive and symptomatic therapies; however, in the last decade, advances in understanding the causes and pathomechanisms of these diverse disorders have enabled development of novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3b1bc3523eb23634d70136d43fb6b43
https://doi.org/10.1007/978-3-030-70147-5_11
https://doi.org/10.1007/978-3-030-70147-5_11
Autor:
Valentina Emmanuele, Emanuele Barca, Michio Hirano, Camilla V Simpson, Xiomara Q Rosales, Andres Berardo, John L.P. Thompson, Kristin Engelstad, Catarina M. Quinzii
Publikováno v:
J Inherit Metab Dis
At present, there is just one approved therapy for patients with mitochondrial diseases in Europe, another in Japan, and none in the United States. These facts reveal an important and significant unmet need for approved therapies for these debilitati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef357ae203ab866850eaaa306951b39d
https://pubmed.ncbi.nlm.nih.gov/33368420
https://pubmed.ncbi.nlm.nih.gov/33368420
Autor:
Rishi R. Agrawal, Delfina Larrea, Yimeng Xu, Lingyan Shi, Hylde Zirpoli, Leslie G. Cummins, Valentina Emmanuele, Donghui Song, Taekyung D. Yun, Frank P. Macaluso, Wei Min, Steven G. Kernie, Richard J. Deckelbaum, Estela Area-Gomez
Publikováno v:
Cellular and molecular neurobiology, vol 43, iss 5
23 p.-5 fig.-3 tab.-1 graph. abst.
Traumatic brain injury (TBI) can lead to neurodegenerative diseases such as Alzheimer’s disease (AD) through mechanisms that remain incompletely characterized. Similar to AD, TBI models present with cellular
Traumatic brain injury (TBI) can lead to neurodegenerative diseases such as Alzheimer’s disease (AD) through mechanisms that remain incompletely characterized. Similar to AD, TBI models present with cellular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a876e62e597700eaec7f7abd0330a1fa
https://doi.org/10.1101/2020.11.13.381756
https://doi.org/10.1101/2020.11.13.381756
Autor:
Nicholas Ah Mew, Wado Akamatsu, Hasan Orhan Akman, Afnan AlHakeem, Koji Aoyama, Rafael Artuch, Michael Beck, C. Frank Bennett, Gerard T. Berry, D. Montgomery Bissell, Brenda Canine, C. Thomas Caskey, Widler Casy, Patrick F. Chinnery, David T. Chuang, Emily K. Cook, Rody P. Cox, Philip L. De Jager, Didem Demirbas, Robert J. Desnick, Salvatore DiMauro, Florian S. Eichler, Bernice Elger, Valentina Emmanuele, Patricia Evans, Brent L. Fogel, Àngels García-Cazorla, Cinzia Gellera, Sailaja Golla, Kimberly Goodspeed, Sidney M. Gospe, Steven J. Gray, Andrea L. Gropman, Yian Gu, Renzo Guerrini, Teresa M. Gunn, Una Hadziahmetovic, Darrah Haffner, R.J. Hagerman, Tamar Harel, Elizabeth Head, Rita Horvath, Yasushi Hosoi, Ying-Chen Claire Hou, Jane Hsiao, Hiroyuki Ishiura, Clifford R. Jack, Vikram Jakkamsetti, William G. Johnson†, Fabrice Jotterand, John P. Kane, Olga Khorkova, Chisato Kinoshita, Sanne E. Klompe, Lisa M. Koehl, Michael C. Kruer, Walter A. Kukull, Roger M. Lane, Joseph H. Lee, M.J. Leigh, Qinglan Ling, James R. Lupski, Paola Luzi, Qian Ma, Gustavo H.B. Maegawa, Mary J. Malloy, Seth S. Margolis, Isaac Marin-Valencia, James A. Mastrianni, Dena Matalon, Reuben Matalon, Kimberlee Michals Matalon Rd, Jennifer M. Mathews, Richard Mayeux, Jennifer McCurdy, Meira R. Meltzer, John H. Menkes†, Justin Miron, Jun Mitsui, Hiroaki Miyajima, Lisa M. Monteggia, Mary Ann Morris, Hugo W. Moser†, Melissa E. Murray, Toshio Nakaki, Nathalie Nilsson, Ichizo Nishino, Sandra M.H. Nordlie, Robert L. Nussbaum, William L. Nyhan, Hideyuki Okano, Sergio Padilla-Lopez, Elena Parrini, Juan M. Pascual, Gregory M. Pastores, Shailendra B. Patel, Marc C. Patterson, Izabella A. Pena, Cynthia Picard, Judes Poirier, Jennifer E. Posey, Gerald V. Raymond, William Renthal, David S. Rosenblatt, Francis Rossignol, Gerald Salen, Konrad Sandhoff, Raphael Schiffmann, Detlev Schindler, Frederick A. Schmitt, Susanne A. Schneider, Eric A. Schon, Edward H. Schuchman, Margretta Reed Seashore, Frances C. Shaffo, Michael Shevell, Sarah E. Sinnett, Myriam Srour, Samuel H. Sternberg, Kazuma Sugie, Kristen L. Szabla, Franco Taroni, Marina Tedeschi Dauar, Shoji Tsuji, Wendy R. Uhlmann, Clara van Karnebeek, Kathryn L. Van Pelt, Prashanthi Vemuri, Charles P. Venditti, Claes Wahlestedt, Bruce Wang, David Watkins, David A. Wenger, Charles A. Williams, Golder N. Wilson, Barry Wolf, R. Max Wynn, Hung-Chun Yu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57d33606a0dd70f9459d3237b2c69dcb
https://doi.org/10.1016/b978-0-12-813955-4.00079-9
https://doi.org/10.1016/b978-0-12-813955-4.00079-9