Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Sam Amin"'
Autor:
Sam Amin, Rikke S. Møller, Angel Aledo‐Serrano, Alexis Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López‐Cabeza, Rima Nabbout, Carol‐Anne Partridge, Susanne Schubert‐Bast, Nicola Specchio, Reetta Kälviäinen
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 832-849 (2024)
Abstract Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The disorder is characterized by intractable early‐onset seizures, severe neurodevel
Externí odkaz:
https://doaj.org/article/e1b18ace19a548f987304aa2382d5955
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Tuberous Sclerosis Complex (TSC) is a genetic condition which leads to a loss of inhibition of cellular growth. Facial angiofibromas (FAs) are hamartomatous growths associated with TSC that appear as multiple small, erythematous papules on the skin o
Externí odkaz:
https://doaj.org/article/2f36978b782d400fa0cfc749864b06c7
Autor:
Sam Amin, Marie Monaghan, Angel Aledo-Serrano, Nadia Bahi-Buisson, Richard F. Chin, Angus J. Clarke, J. Helen Cross, Scott Demarest, Orrin Devinsky, Jenny Downs, Elia M. Pestana Knight, Heather Olson, Carol-Anne Partridge, Graham Stuart, Marina Trivisano, Sameer Zuberi, Tim A. Benke
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from in
Externí odkaz:
https://doaj.org/article/b229f548295447debb7effe4ff9a80e2
Autor:
Richard F. Chin, Ana Mingorance, Benjamin Ruban-Fell, Isabelle Newell, Jenni Evans, Kishan Vyas, Charlotte Nortvedt, Sam Amin
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS) and CDKL5 deficiency disorder (CDD) are rare epileptic conditions, characterised by drug-resistant seizures. Seizure management in these patients requires careful therapy selection. This
Externí odkaz:
https://doaj.org/article/935c122a46d6484fbf4bbe58c070217c
The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial
Autor:
Sam Amin, Andrew A Mallick, Hannah Edwards, Mario Cortina-Borja, Matthew Laugharne, Marcus Likeman, Finbar J.K. O'Callaghan
Publikováno v:
EClinicalMedicine, Vol 32, Iss , Pp 100715- (2021)
Background: Tuberous Sclerosis Complex (TSC) is a genetic disorder characterised by the development of benign tumours secondary to loss of inhibitory regulation of the mTOR (mechanistic Target of Rapamycin) intracellular growth pathway. Metformin inh
Externí odkaz:
https://doaj.org/article/4a27f132923c4101991a48da4d07e312
Autor:
Elia M Pestana Knight, Sam Amin, Nadia Bahi-Buisson, Tim A Benke, J Helen Cross, Scott T Demarest, Heather E Olson, Nicola Specchio, Thomas R Fleming, Alex A Aimetti, Maciej Gasior, Orrin Devinsky, Elena Belousova, Oleg Belyaev, Bruria Ben-Zeev, Andreas Brunklaus, Michael A. Ciliberto, Francesca Darra, Ronald Davis, Valentina De Giorgis, Olga Doronina, Michael Fahey, Renzo Guerrini, Peter Heydemann, Olga Khaletskaya, Pawel Lisewski, Eric D. Marsh, Ahsan N. Moosa, Scott Perry, Sunny Philip, Rajsekar R. Rajaraman, Ben Renfroe, Russell P. Saneto, Ingrid E. Scheffer, Yoshimi Sogawa, Bernhardt Suter, Matthew T. Sweney, Daniel Tarquinio, Pierangelo Veggiotti, Geoff Wallace, Judy Weisenberg, Angus Wilfong, Elaine C. Wirrell, Muhammad Zafar, Marta Zolnowska
Publikováno v:
The Lancet Neurology. 21:417-427
CDKL5 deficiency disorder (CDD) is a rare, X-linked, developmental and epileptic encephalopathy characterised by severe global developmental impairment and seizures that can begin in the first few months after birth and are often treatment refractory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22b17fab27a5bde8c7c1a684f969528
https://doi.org/10.1016/s1474-4422(22)00077-1
https://doi.org/10.1016/s1474-4422(22)00077-1
Autor:
Amr Ammar, Sam Amin, Michael Vloeberghs, Katherine Martin, Alice Lording, Rajib Lodh, Rachel B. Smith, Martin Smith, Jane Leonard, Rob Forsyth, Santosh R. Mordekar, Darach Crimmins, Lucy Bellis, Benedetta Pettorini, Christine Sneade, Hesham Zaki, Margaret Kaminska, Andrea Whitney, Paul Eunson, John Goodden, Ram Kumar, Martin Kirkpatrick, Phillip Brink, Joanne Kehoe, Amedeo Calisto, Russell Miller, Daniel E. Lumsden
Publikováno v:
Archives of Disease in Childhood. 106:1202-1206
BackgroundIntrathecal baclofen (ITB) is a useful treatment for hypertonia where non-invasive treatments have been ineffective or poorly tolerated. There is an absence of national guidance on selection criteria and a lack of literature regarding patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18a70cf0c214c0bf7170d23d94ffb2db
https://doi.org/10.1136/archdischild-2020-321487
https://doi.org/10.1136/archdischild-2020-321487
Autor:
Shenzhao Lu, Mengqi Ma, Xiao Mao, Carlos A. Bacino, Joseph Jankovic, V. Reid Sutton, James A. Bartley, Xueying Wang, Jill A. Rosenfeld, Ana Beleza-Meireles, Jaynee Chauhan, Xueyang Pan, Megan Li, Pengfei Liu, Katrina Prescott, Sam Amin, George Davies, Michael F. Wangler, Yuwei Dai, Hugo J. Bellen
Publikováno v:
Am J Hum Genet
Proteins containing the FERM (four-point-one, ezrin, radixin, and moesin) domain link the plasma membrane with cytoskeletal structures at specific cellular locations and have been implicated in the localization of cell-membrane-associated proteins an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::946e47effa59561d4cc86d996fe53594
https://pubmed.ncbi.nlm.nih.gov/36206744
https://pubmed.ncbi.nlm.nih.gov/36206744
Publikováno v:
Neurocutaneous Disorders ISBN: 9783030878924
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cfe9db48fb6a16e266b1e3445421711d
https://doi.org/10.1007/978-3-030-87893-1_52
https://doi.org/10.1007/978-3-030-87893-1_52
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::170420752164fa8f147bf165bbb686fc
https://doi.org/10.1530/endoabs.78.oc6.3
https://doi.org/10.1530/endoabs.78.oc6.3