Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Paloma Gonzalez-Perez"'
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Mutations in nuclear-encoded genes that are involved in mitochondrial DNA replication and maintenance (e.g., POLG) have been associated with chronic progressive external ophthalmoplegia (CPEO) phenotype. These nuclear genome mutations may lead to mul
Externí odkaz:
https://doaj.org/article/e4f966c54cff4be98c62f717079683cb
Autor:
Eleonora S. D'Ambrosio, Kathy Chuang, William S. David, Anthony A. Amato, Paloma Gonzalez‐Perez
Publikováno v:
Muscle & Nerve.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8f90ab4ac362d53e0ef38936398f4e9
https://doi.org/10.1002/mus.27801
https://doi.org/10.1002/mus.27801
Autor:
Paloma Gonzalez-Perez, Eleonora S. D'Ambrosio, Vincent Picher-Martel, Kathy Chuang, William S. David, Anthony A. Amato
Publikováno v:
Neurology Genetics. 9:e200073
Background and ObjectivesThe existence of clinical anticipation, congenital form, and parent-of-origin effect in myotonic dystrophy type 2 (DM2) remains uncertain. Here, we aimed at investigating whether there is a parent-of-origin effect on the age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed500adbac02d7cf3974368c496dc105
https://doi.org/10.1212/nxg.0000000000200073
https://doi.org/10.1212/nxg.0000000000200073
Autor:
Eunjoo Kim, Layal Antoury, Thurman M. Wheeler, Paloma Gonzalez-Perez, Seward B. Rutkove, Jia Li, Ningyan Hu
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 23, Iss, Pp 393-405 (2021)
Molecular Therapy. Nucleic Acids
Molecular Therapy. Nucleic Acids
Patients with myotonic dystrophy type 1 (DM1) identify chronic fatigue as the most debilitating symptom, which manifests in part as prolonged recovery after exercise. Clinical features of DM1 result from pathogenic gain-of-function activity of transc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8646b56d6fe92af2a9e1f5bb1b8298
http://www.sciencedirect.com/science/article/pii/S216225312030370X
http://www.sciencedirect.com/science/article/pii/S216225312030370X
Autor:
Seth J. Perlman, Katherine D. Mathews, Amber M. Gedlinske, Paloma Gonzalez-Perez, Cheryl Smith, Wendy L. Sebetka
Publikováno v:
Neuromuscular disorders : NMD
A postsynaptic dysfunction of the neuromuscular junction has been reported in patients with alpha-dystroglycanopathy associated with mutations in guanosine diphosphate (GDP)-mannose pyrophosphorylase B gene (GMPPB), some of whom benefit from symptoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0813de468ded8513e3ec78b092682576
https://doi.org/10.1016/j.nmd.2020.01.002
https://doi.org/10.1016/j.nmd.2020.01.002
Publikováno v:
Journal of Clinical Medicine. 12:1939
Myotonic dystrophy (DM) is the most common muscular dystrophy in adults. Dominantly inherited CTG and CCTG repeat expansions in DMPK and CNBP genes cause DM type 1 (DM1) and 2 (DM2), respectively. These genetic defects lead to the abnormal splicing o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc430e0ddf7802cdba64834e3f9e5469
https://doi.org/10.3390/jcm12051939
https://doi.org/10.3390/jcm12051939
Publikováno v:
Practical Neurology
A 38-year-old woman gave a 1-year history of difficulties climbing stairs and walking long distances, needing a wheelchair at times. More recently, she had also experienced weakness of her arms with difficulties doing her hair or lifting light weight
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62b603ab4721286762f8cbfe01de420c
http://europepmc.org/articles/PMC6703146
http://europepmc.org/articles/PMC6703146
Autor:
Jorge Ojeda, Sara Fernandez-Collemann, Mirva J. Saaranen, Danilo B. Medinas, Fernando J. Bustos, Viviana Pérez, Johnny Salameh, Alicia Colombo, Paloma Gonzalez-Perez, Natalia Muñoz, Pablo Rozas, Robert H. Brown, Mauricio Torres, Vicente Valenzuela, Lloyd W. Ruddock, Pablo Henny, Miguel L. Concha, Rodrigo Lopez-Gonzalez, Juan Pablo Henríquez, Rene L. Vidal, Alfredo Sagredo, Brigitte van Zundert, Sandra Almeida, Soledad Matus, Thergiory Irrazabal, Mario Campero, Fen-Biao Gao, Catherine I. Andreu, Ute Woehlbier, Ricardo Armisen, Karina Palma, Claudio Hetz
Publikováno v:
EMBO J
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Disturbance of endoplasmic reticulum (ER) proteostasis is a common feature of amyotrophic lateral sclerosis (ALS). Protein disulfide isomerases (PDIs) are ER foldases identified as possible ALS biomarkers, as well as neuroprotective factors. However,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93f3762ccb894d457fc7ff27ef704c47
https://doi.org/10.15252/embj.201592224
https://doi.org/10.15252/embj.201592224
Autor:
Bénédicte Dubois, Elke Peeters, Lies Schoonaert, Ammar Al-Chalabi, Philip Van Damme, Robert H. Brown, Peter M. Andersen, Ann M. Turnley, Vincent Thijs, Orla Hardiman, Robin Lemmens, Kim A. Staats, Jan H. Veldink, Paul W.J. van Vught, Ludo Van Den Bosch, Paloma Gonzalez-Perez, Angela S. Laird, Mieke Timmers, Leonard H. van den Berg, Wim Robberecht, Annelies Van Hoecke, Thomas Philips, An Goris
Publikováno v:
Nature Medicine; Vol 18
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Disease onset and progression are variable, with survival ranging from months to decades. Factors underlying this variability may represent targets for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf34e802725e9e83591c5d52ca7c6075
Publikováno v:
Revista de Neurología. 66:175
Objetivos. Investigar si los deficits en las funciones ejecutivas en el trastorno por deficit de atencion/hiperactividad (TDAH) afectan a su compresion lectora e identificar un potencial marcador biologico de este endofenotipo neuropsicologico a trav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ed4896b74c5716cfbd68165fac3028d
https://doi.org/10.33588/rn.6606.2017521
https://doi.org/10.33588/rn.6606.2017521