Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Daniel Ebrahimi‐Fakhari"'
Autor:
Sascha Meyer, Jaro Langer, Martin Poryo, Johannes Goaliath Bay, Stefan Wagenpfeil, Beate Heinrich, Holger Nunold, Adam Strzelczyk, Daniel Ebrahimi‐Fakhari
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 411-424 (2023)
Abstract Objective The aim of this study was to provide seizure etiology, semiology, underlying conditions, and out‐of‐ and in‐hospital diagnostics, treatment, and outcome data on children with out‐of‐ or in‐hospital‐onset status epilep
Externí odkaz:
https://doaj.org/article/9ff624c5dd3b4173ae156f6ddfe7438b
Autor:
David M. Ritter, Bailey K. Fessler, Daniel Ebrahimi-Fakhari, Jun Wei, David N. Franz, Darcy A. Krueger, Andrew T. Trout, Alexander J. Towbin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Tuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies show numerous rare findings in TSC. Guidelines suggest routine abdominal and chest imaging to
Externí odkaz:
https://doaj.org/article/e103a99e204f4cb18a867cf5ca0f4595
Autor:
Kate Mowrey, Hope Northrup, Peyton Rougeau, S. Shahrukh Hashmi, Darcy A. Krueger, Daniel Ebrahimi-Fakhari, Alexander J. Towbin, Andrew T. Trout, Jamie K. Capal, David Neal Franz, David Rodriguez-Buritica
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Tuberous sclerosis complex (TSC) is a genetic condition that causes benign tumors to grow in multiple organ systems. Nonfunctional pancreatic neuroendocrine tumors (PNETs) are a rare clinical feature of TSC with no specific guidelines out
Externí odkaz:
https://doaj.org/article/7e54f14f8031455fac2c2e372cf2a540
Autor:
Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin, Sascha Meyer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Tuberous Sclerosis Complex (TSC) is a rare multisystem disorder. In 2012 diagnostic criteria for TSC were revised. However, data on the incidence of TSC are limited. Methods Prospective, national surveillance study in Germany over
Externí odkaz:
https://doaj.org/article/6c50d9a8aa6e4b87ad5e6acec036a639
Autor:
Daniel Ebrahimi-Fakhari, Ulrich Dillmann, Marina Flotats-Bastardas, Martin Poryo, Hashim Abdul-Khaliq, Mohammed Ghiath Shamdeen, Bernhard Mischo, Michael Zemlin, Sascha Meyer
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Externí odkaz:
https://doaj.org/article/ac1bff66f3e849a7a8d5bf9f1ef8c03c
Autor:
Daniel Ebrahimi-Fakhari, Ulrich Dillmann, Marina Flotats-Bastardas, Martin Poryo, Hashim Abdul-Khaliq, Mohammed Ghiath Shamdeen, Bernhard Mischo, Michael Zemlin, Sascha Meyer
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
About 15% of Duchenne muscular dystrophy (DMD) cases are caused by point mutations leading to premature stop codons and disrupted synthesis of the dystrophin protein. Stop codon read-through therapy is available with the drug Ataluren (Translarna® b
Externí odkaz:
https://doaj.org/article/405ae404fd94497e863379476b75ce6c
Autor:
Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin, Sascha Meyer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-1 (2019)
Externí odkaz:
https://doaj.org/article/7be44a885618431aab8febf573cdb601
Publikováno v:
Pediatric Neurology. 125:26-31
In tuberous sclerosis, most cardiac rhabdomyomas regress spontaneously. In some cases, the tumors can cause life-threatening hemodynamic compromise requiring subsequent surgical resection. The mechanistic target of rapamycin inhibitors everolimus and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53aeb0b82f2bf974d646cd990a97fda2
https://doi.org/10.1016/j.pediatrneurol.2021.09.014
https://doi.org/10.1016/j.pediatrneurol.2021.09.014
Publikováno v:
Expert Opinion on Pharmacotherapy. 21:1329-1336
Introduction Subependymal ependymal giant cell astrocytomas (SEGAs) occur almost exclusively in the setting of tuberous sclerosis (TSC). They are low-grade gliomas which typically produce clinical symptoms through either mass effect or hydrocephalus.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc74d9cbb8bbf37fdb23039a7cacf2c9
https://doi.org/10.1080/14656566.2020.1751124
https://doi.org/10.1080/14656566.2020.1751124