Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Logan A Pucci"'
Autor:
Anna F. Fusco, Logan A. Pucci, Pawel M. Switonski, Debolina D. Biswas, Angela L. McCall, Amanda F. Kahn, Justin S. Dhindsa, Laura M. Strickland, Albert R. La Spada, Mai K. ElMallah
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 7 (2021)
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large repeat expansions (>200 CAGs) a
Externí odkaz:
https://doaj.org/article/8c75ff01c0a146fcb49a77e3ba463d3f
Autor:
Angela L McCall, Logan A Pucci, Laura M Strickland, Mai K. ElMallah, Justin S Dhindsa, Aidan M. Bailey
Publikováno v:
Journal of Smooth Muscle Research
Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid α-glucosidase (GAA)—an enzyme necessary for lysosomal glycogen degradation. A lack of GAA results in an accumulation of glycogen in cardiac an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb55c1a5ebb2efe59654d7fd54b8205
https://doi.org/10.1540/jsmr.57.8
https://doi.org/10.1540/jsmr.57.8
Autor:
Marina Zieger, Robert H. Brown, Mai K. ElMallah, Allison M. Keeler, Alessandra Veinbachs, Logan A Pucci, Christian Mueller, Carson Semple
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 246-257 (2020)
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 246-257 (2020)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that results in death from respiratory failure. No cure exists for this devastating disease, but therapy that directly targets the respiratory system has the potential to prolon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2473a2c85b15047a4ae3881fc2a9ebe2
http://europepmc.org/articles/PMC6962641
http://europepmc.org/articles/PMC6962641
Autor:
Pawel M. Switonski, Justin S Dhindsa, Mai K. ElMallah, Anna F Fusco, Debolina D. Biswas, Logan A Pucci, Laura M Strickland, Albert R. La Spada, Angela L McCall, Amanda F Kahn
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 7 (2021)
Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms
article-version (VoR) Version of Record
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large repeat expansions (>200 CAGs) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152997f491b5df4c711826f6d352f0bb
http://dmm.biologists.org/content/14/7/dmm048893
http://dmm.biologists.org/content/14/7/dmm048893
Autor:
Aidan M. Bailey, Charles A. Gersbach, Angela L McCall, Justin S Dhindsa, Jacqueline N. Robinson-Hamm, Logan A Pucci, Mai K. ElMallah
Publikováno v:
The FASEB Journal. 35
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59b91b82554297991e0be798229f9799
https://doi.org/10.1096/fasebj.2021.35.s1.03516
https://doi.org/10.1096/fasebj.2021.35.s1.03516
Publikováno v:
The FASEB Journal. 35
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9287d9cfa93a574719c0a1ac986ea725
https://doi.org/10.1096/fasebj.2021.35.s1.03965
https://doi.org/10.1096/fasebj.2021.35.s1.03965
Autor:
Robert H. Brown, Christian Mueller, Allison Keeler‐Klunk, Mai K. ElMallah, Logan A Pucci, Angela L McCall, Marina Zieger
Publikováno v:
The FASEB Journal. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::164790872090e7f07885a864a24f5814
https://doi.org/10.1096/fasebj.2019.33.1_supplement.843.11
https://doi.org/10.1096/fasebj.2019.33.1_supplement.843.11
Autor:
Laura M Strickland, Justin S Dhindsa, Mai K. ElMallah, Angela L McCall, Henry L Tseng, Logan A Pucci
Publikováno v:
The FASEB Journal. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bb06eebc64eba5185698ba4f499fc4e
https://doi.org/10.1096/fasebj.2019.33.1_supplement.551.19
https://doi.org/10.1096/fasebj.2019.33.1_supplement.551.19
Autor:
Mai K. ElMallah, Henry C. Tseng, Justin S Dhindsa, Angela L McCall, Laura M Strickland, Logan A Pucci
Publikováno v:
The FASEB Journal. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad4d065f9c88bfe45d60fdc6799df7be
https://doi.org/10.1096/fasebj.2019.33.1_supplement.844.6
https://doi.org/10.1096/fasebj.2019.33.1_supplement.844.6
Autor:
Amanda F Khan, Angela L McCall, Debolina D. Biswas, Anna F Fusco, Logan A Pucci, Laura M Strickland, Mai K. ElMallah, Justin S Dhindsa, Henry C. Tseng
Publikováno v:
Respiratory Physiology & Neurobiology. 284:103570
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6d8925dafc21840021c294708f2ca34
https://doi.org/10.1016/j.resp.2020.103570
https://doi.org/10.1016/j.resp.2020.103570