Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Joffre E Olaya"'
Autor:
Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Abstract Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificit
Externí odkaz:
https://doaj.org/article/dca030d850824609987aa2702f2ac2b3
Autor:
Kavyakantha Remakanthakurup Sindhu, Duy Ngo, Hernando Ombao, Joffre E Olaya, Daniel W Shrey, Beth A Lopour
Publikováno v:
Journal of Neural Engineering. 20:026002
Objective. Intracranial electroencephalogram (iEEG) plays a critical role in the treatment of neurological diseases, such as epilepsy and Parkinson’s disease, as well as the development of neural prostheses and brain computer interfaces. While elec
Autor:
Kavyakantha Remakanthakurup Sindhu, Duy Ngo, Hernando Ombao, Joffre E. Olaya, Daniel W. Shrey, Beth A. Lopour
Intracranial EEG (iEEG) plays a critical role in the treatment of neurological diseases, such as epilepsy and Parkinson’s disease, as well as the development of neural prostheses and brain computer interfaces. While electrode geometries vary widely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f74a5d6bdee234cf36bbebbd4acb265d
https://doi.org/10.1101/2022.01.05.475164
https://doi.org/10.1101/2022.01.05.475164
Autor:
Ruth Williams, Norberto Guelbert, Maurizio Scarpa, Samuel F. Berkovic, Raymond Y. Wang, Noreen Murphy, Nicola Specchio, Simon Dulz, Paul Gissen, Joffre E Olaya, Emily de los Reyes, Jonathan W. Mink, Ingrid E. Scheffer, Alessandro Simonati, Sara E. Mole, Angela Schulz, Miriam Nickel, Eben Badoe, Ina von Löbbecke, Heather L Mason, Charles Marques Lourenço
Publikováno v:
Orphanet journal of rare diseases, vol 16, iss 1
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Orphanet Journal of Rare Diseases
Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d908a653f3465b251f513b2d8297451f
https://hdl.handle.net/11577/3486195
https://hdl.handle.net/11577/3486195
Autor:
Mole, Sara E., Schulz, Angela, Eben Badoe, Berkovic, Samuel F., De Los Reyes, Emily C., Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M., Mason, Heather L., Mink, Jonathan W., Murphy, Noreen, Nickel, Miriam, Joffre E. Olaya, Scarpa, Maurizio, Scheffer, Ingrid E., Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y., Williams, Ruth E.
Additional file 2: Poster. Methodology to develop guidelines for the management of patients with CLN2 disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c927f48ddfeefa5b67a7e4cd8645b6a
Autor:
Mole, Sara E., Schulz, Angela, Eben Badoe, Berkovic, Samuel F., De Los Reyes, Emily C., Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M., Mason, Heather L., Mink, Jonathan W., Murphy, Noreen, Nickel, Miriam, Joffre E. Olaya, Scarpa, Maurizio, Scheffer, Ingrid E., Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y., Williams, Ruth E.
Additional file 1: Appendices. Appendices 1–9.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::042c85438a58bf51ecbdc7ab38fba8f3
Autor:
Tuan Dao, Aaron Goldberg, Jody Pathare, Clay Hoerig, Chenue Abongwa, William G Loudon, Joffre E Olaya, Ashley Plant-Fox, Ali Nael Amzajerdi
Publikováno v:
Neuro-Oncology
Background Ewing sarcoma (EWS) is a rare type of pediatric bone and soft tissue tumor that accounts for approximately 1% of all pediatric malignancies. It most commonly occurs in the long bones or axial skeleton, and rarely includes extraosseous site
Publikováno v:
Translational Stroke Research. 3:178-181
Neuroimaging is critical for diagnosing and subsequently managing acute strokes. A variety of neuroimaging studies are used to help differentiate ischemic from hemorrhagic strokes, as well as to rule out other pathologies that could mimic a stroke (i
Publikováno v:
Journal of Neurosurgery: Pediatrics. 7:157-160
Cerebellopontine angle arachnoid cysts are usually asymptomatic, but are frequently found incidentally because of increased use of neuroimaging. Nevertheless, as these cysts enlarge, they may compress surrounding structures and cause neurological sym
Publikováno v:
Journal of Neurosurgery: Pediatrics. 5:636-640
Pineal tumors are rare neoplasms that are categorized into pineoblastomas, pineocytomas, and pineal parenchymal tumors of intermediate differentiation. Pineal anlage tumors are primary pineal tumors with neuroepithelial and ectomesenchymal differenti