Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Pomi Yun"'
Autor:
Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sánchez‐Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1442-1455 (2023)
Abstract Objective FHL1‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1‐related reducing bo
Externí odkaz:
https://doaj.org/article/35a339c466cb40e8a5e21cd005acc393
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Autor:
Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 12, Pp 1-17 (2021)
Abstract BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin‐5 for fusion of endoplasmic reticulum‐derived vesicles with the ER‐Golgi intermediate compartment (ERGIC) and the cis‐Golgi. Here, we report three
Externí odkaz:
https://doaj.org/article/36e02f0c64b8417881fabf19320857cf
Autor:
Leslie H. Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Meganne E. Leach, Rachel Alvarez, Anne Rutkowski, Natalie D. Shaw, A. Reghan Foley, Carsten G. Bönnemann
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in children with congenital m
Externí odkaz:
https://doaj.org/article/cc66bc3eb49d4cbe95e9f7527450d77a
Autor:
Foley, A. Reghan, Pomi Yun, Leach, Meganne E., Neuhaus, Sarah B., Averion, Gilberto V., Ying Hu, Hayes, Leslie H., Donkervoort, Sandra, Jain, Minal S., Waite, Melissa, Parks, Rebecca, Bharucha-Goebel, Diana X., Mayer, Oscar H., Yaqun Zou, Fink, Margaret, DeCoster, Jameice, Mendoza, Christopher, Arévalo, Cynthia, Hausmann, Rudolf, Petraki, Diana
Publikováno v:
Neurology: Genetics; Jun2024, Vol. 10 Issue 3, p1-12, 12p
Autor:
Payam Mohassel, Sandra Donkervoort, Alice B. Schindler, Andrew E. Arai, Pomi Yun, Ranjini Srinivasan, S. Neuhaus, Carsten G. Bönnemann, Jahannaz Dastgir, Ami Mankodi, A. Reghan Foley
Publikováno v:
Neuromuscular Disorders. 30:742-749
Patients with bi-allelic loss-of-function mutations in the gene ANO5 most commonly present with muscular dystrophy. In some studies, patients with ANO5-related dystrophy (ANO5-RD) had evidence of mild cardiac abnormalities; however, cardiac magnetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417346cd85386291fe0bfd008f61aa60
https://doi.org/10.1016/j.nmd.2020.07.001
https://doi.org/10.1016/j.nmd.2020.07.001
Autor:
Sabine De Chastonay, Carsten G. Bönnemann, Linda MacLaren, Benjamin T. Cocanougher, Jason D. Wittenbach, Minal Jain, Pomi Yun, Ruhi Vasavada, Lauren Flynn, A. Reghan Foley, Andrew E. Arai, M. Waite, A. Micheil Innes, Sandra Donkervoort, Sameer Chhibber, Tahseen Mozaffar
Publikováno v:
Neurology
Neurology, vol 93, iss 16
Neurology, vol 93, iss 16
ObjectiveTo better characterize adult myotubularin 1 (MTM1)–related myopathy carriers and recommend a phenotypic classification.MethodsThis cohort study was performed at the NIH Clinical Center. Participants were required to carry a confirmed MTM1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b10167b1f071fd4dce4ea6ea97a24734
https://doi.org/10.1212/wnl.0000000000008316
https://doi.org/10.1212/wnl.0000000000008316
Autor:
Gabriele Siciliano, Sonia Messina, David Gómez-Andrés, A. Reghan Foley, Luisa Politano, Pascal Sabouraud, Hirofumi Komaki, Rachel Alvarez, Adele D'Amico, Sandra Donkervoort, Pomi Yun, Vincent Laugel, Gina Norato, Hui Xiong, Lorenzo Maggi, Edmar Zanoteli, Susana Quijano-Roy, Monique M. Ryan, Thomas Voit, Gisèle Bonne, Ulrike Schara, Claudia Castiglioni, Ricardo Erazo-Torricelli, Carsten G. Bönnemann, Karin Kleinsteuber, Rabah Ben Yaou, Chiara Marini-Bettolo, Emmanuelle Lagrue, M. Mayer, Tyler Mark Pierson, Anna Sarkozy, Isabelle Desguerre, Sandra Mercier, Ivana Dabaj, Andrés Nascimento, Marta Bertoli, Nicolas Deconinck, Francesco Muntoni, Liliana Vercelli, Eugenio Mercuri, Akihiko Ishiyama, Soledad Monges, Grace Yoon, Juliana Gurgel-Giannetti
Publikováno v:
Scientia
Brain communications, vol 3, iss 3
Brain communications, vol 3, iss 3
Laminopaties; Distròfia muscular; Múscul estriat Laminopatías; Distrofia muscular; Músculo estriado Laminopathies; Muscular dystrophy; Striated muscle Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e9472afd51351be970c9b9d192e60a7
https://www.ncbi.nlm.nih.gov/pubmed/34240052
https://www.ncbi.nlm.nih.gov/pubmed/34240052
Autor:
José C. Milisenda, Margaret Fink, M. Vigo, Tracy Ogata, Raul Dominguez-Rubio, Jessica Expósito-Escudero, Andrés Nascimento, Jaume Colomer, Sandra Donkervoort, Minal Jain, Cristina Domínguez-González, Daniel Cuadras, Cristina Jou, Katherine G. Meilleur, A. Reghan Foley, Julita Medina, Jahannaz Dastgir, Aron Mebrahtu, Macarena Alarcon, Carsten G. Bönnemann, M. Leach, Carlos Ortez, Laura Carrera-García, Montse Olivé, Elena Montiel-Morillo, Pomi Yun, Cecilia Jimenez-Mallebrera, Daniel Natera-de Benito, Jordi Díaz-Manera, Ying Hu
Publikováno v:
Neurology
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
ObjectiveTo accurately categorize the phenotypes of individuals with collagen VI–related dystrophies (COL6-RDs) during the first years of life to predict long-term motor function and pulmonary function, to provide phenotype-specific anticipatory ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ece0bd2159d6abc77253e8362a3a18b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18726
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18726
Autor:
Rabah, Ben Yaou, Pomi, Yun, Ivana, Dabaj, Gina, Norato, Sandra, Donkervoort, Hui, Xiong, Andrés, Nascimento, Lorenzo, Maggi, Anna, Sarkozy, Soledad, Monges, Marta, Bertoli, Hirofumi, Komaki, Michèle, Mayer, Eugenio, Mercuri, Edmar, Zanoteli, Claudia, Castiglioni, Chiara, Marini-Bettolo, Adele, D'Amico, Nicolas, Deconinck, Isabelle, Desguerre, Ricardo, Erazo-Torricelli, Juliana, Gurgel-Giannetti, Akihiko, Ishiyama, Karin S, Kleinsteuber, Emmanuelle, Lagrue, Vincent, Laugel, Sandra, Mercier, Sonia, Messina, Luisa, Politano, Monique M, Ryan, Pascal, Sabouraud, Ulrike, Schara, Gabriele, Siciliano, Liliana, Vercelli, Thomas, Voit, Grace, Yoon, Rachel, Alvarez, Francesco, Muntoni, Tyler M, Pierson, David, Gómez-Andrés, A, Reghan Foley, Susana, Quijano-Roy, Carsten G, Bönnemann, Gisèle, Bonne
Publikováno v:
Brain Communications
Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::72e871e4b9d150ef8d59b34bcdce8628
https://pubmed.ncbi.nlm.nih.gov/34240052
https://pubmed.ncbi.nlm.nih.gov/34240052
Autor:
Rachel Alvarez, Carsten G. Bönnemann, Anne Rutkowski, M. Leach, A. Reghan Foley, Pomi Yun, Leslie H. Hayes, Gina Norato, Payam Mohassel, Natalie D. Shaw, Sandra Donkervoort
Publikováno v:
BMC Pediatrics
BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)
BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)
Background Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in children with congenital muscle dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bd3a50b2771bc1324d7cf7195ec2f0b
http://europepmc.org/articles/PMC7006143
http://europepmc.org/articles/PMC7006143