Pesquisa | Portal de Pesquisa da BVS

1.

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

Lu, Shenzhao; Ma, Mengqi; Mao, Xiao; Bacino, Carlos A; Jankovic, Joseph; Sutton, V Reid; Bartley, James A; Wang, Xueying; Rosenfeld, Jill A; Beleza-Meireles, Ana; Chauhan, Jaynee; Pan, Xueyang; Li, Megan; Liu, Pengfei; Prescott, Katrina; Amin, Sam; Davies, George; Wangler, Michael F; Dai, Yuwei; Bellen, Hugo J.

Am J Hum Genet ; 109(10): 1932-1943, 2022 10 06.

Artigo em Inglês | MEDLINE | ID: mdl-36206744

2.

Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.

Olson, Heather E; Amin, Sam; Bahi-Buisson, Nadia; Devinsky, Orrin; Marsh, Eric D; Pestana-Knight, Elia; Rajaraman, Rajsekar R; Aimetti, Alex A; Rybak, Eva; Kong, Fanhui; Miller, Ian; Hulihan, Joseph; Demarest, Scott.

Epilepsia ; 65(1): 37-45, 2024 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-37950390

3.

Growth patterns in individuals with CDKL5 deficiency disorder.

Wong, Kingsley; Davies, George; Leonard, Helen; Downs, Jenny; Junaid, Mohammed; Amin, Sam.

Dev Med Child Neurol ; 66(4): 469-482, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-37804112

4.

The journey of metformin from glycaemic control to mTOR inhibition and the suppression of tumour growth.

Amin, Sam; Lux, Andrew; O'Callaghan, Finbar.

Br J Clin Pharmacol ; 85(1): 37-46, 2019 01.

Artigo em Inglês | MEDLINE | ID: mdl-30290005

5.

Forewords.

Amin, Sam.

Dev Med Child Neurol ; 66 Suppl 1: 3, 2024 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-38247285

6.

Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population-based cohort.

Mallick, Andrew A; Ganesan, Vijeya; Kirkham, Fenella J; Fallon, Penny; Hedderly, Tammy; McShane, Tony; Parker, Alasdair P; Wassmer, Evangeline; Wraige, Elizabeth; Amin, Sam; Edwards, Hannah B; Cortina-Borja, Mario; O'Callaghan, Finbar J.

Ann Neurol ; 79(5): 784-793, 2016 May.

Artigo em Inglês | MEDLINE | ID: mdl-26928665

7.

Causes of mortality in individuals with tuberous sclerosis complex.

Amin, Sam; Lux, Andrew; Calder, Nuala; Laugharne, Matthew; Osborne, John; O'callaghan, Finbar.

Dev Med Child Neurol ; 59(6): 612-617, 2017 06.

Artigo em Inglês | MEDLINE | ID: mdl-27935023

8.

Consensus recommendations for the assessment and management of idiopathic intracranial hypertension in children and young people.

Amin, Sam; Monaghan, Marie; Forrest, Katharine; Harijan, Pooja; Mehta, Vishal; Moran, Matthew; Mukhtyar, Bina; Muthusamy, Brinda; Parker, Alasdair; Prabhakar, Prab; Whitehouse, William P; Krishnakumar, Deepa.

Arch Dis Child ; 2024 May 09.

Artigo em Inglês | MEDLINE | ID: mdl-38724065

9.

Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.

Amin, Sam; Møller, Rikke S; Aledo-Serrano, Angel; Arzimanoglou, Alexis; Bager, Patrick; Józwiak, Sergiusz; Kluger, Gerhard Josef; López-Cabeza, Sandra; Nabbout, Rima; Partridge, Carol-Anne; Schubert-Bast, Susanne; Specchio, Nicola; Kälviäinen, Reetta.

Epilepsia Open ; 2024 Mar 07.

Artigo em Inglês | MEDLINE | ID: mdl-38450883

10.

Impact of facial angiofibromas in tuberous sclerosis complex and reported efficacy of available treatments.

Monaghan, Marie; Takhar, Pooja; Langlands, Luke; Knuf, Markus; Amin, Sam.

Front Med (Lausanne) ; 9: 967971, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-36106321

11.

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.

Knight, Elia M Pestana; Amin, Sam; Bahi-Buisson, Nadia; Benke, Tim A; Cross, J Helen; Demarest, Scott T; Olson, Heather E; Specchio, Nicola; Fleming, Thomas R; Aimetti, Alex A; Gasior, Maciej; Devinsky, Orrin.

Lancet Neurol ; 21(5): 417-427, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-35429480

12.

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.

Amin, Sam; Monaghan, Marie; Aledo-Serrano, Angel; Bahi-Buisson, Nadia; Chin, Richard F; Clarke, Angus J; Cross, J Helen; Demarest, Scott; Devinsky, Orrin; Downs, Jenny; Pestana Knight, Elia M; Olson, Heather; Partridge, Carol-Anne; Stuart, Graham; Trivisano, Marina; Zuberi, Sameer; Benke, Tim A.

Front Neurol ; 13: 874695, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-35795799

13.

Treatment Guidelines for Rare, Early-Onset, Treatment-Resistant Epileptic Conditions: A Literature Review on Dravet Syndrome, Lennox-Gastaut Syndrome and CDKL5 Deficiency Disorder.

Chin, Richard F; Mingorance, Ana; Ruban-Fell, Benjamin; Newell, Isabelle; Evans, Jenni; Vyas, Kishan; Nortvedt, Charlotte; Amin, Sam.

Front Neurol ; 12: 734612, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-34759881

14.

The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial.

Amin, Sam; Mallick, Andrew A; Edwards, Hannah; Cortina-Borja, Mario; Laugharne, Matthew; Likeman, Marcus; O'Callaghan, Finbar J K.

EClinicalMedicine ; 32: 100715, 2021 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-33681737

15.

Intrathecal baclofen pumps in the management of hypertonia in childhood: a UK and Ireland wide survey.

Lodh, Rajib; Amin, Sam; Ammar, Amr; Bellis, Lucy; Brink, Phillip; Calisto, Amedeo; Crimmins, Darach; Eunson, Paul; Forsyth, Rob J; Goodden, John; Kaminska, Margaret; Kehoe, Joanne; Kirkpatrick, Martin; Kumar, Ram; Leonard, Jane; Lording, Alice; Martin, Katherine; Miller, Russell; Mordekar, Santosh R; Pettorini, Benedetta; Smith, Martin; Smith, Rachel; Sneade, Christine; Whitney, Andrea; Vloeberghs, Michael; Zaki, Hesham; Lumsden, Daniel E.

Arch Dis Child ; 106(12): 1202-1206, 2021 12.

Artigo em Inglês | MEDLINE | ID: mdl-33853760

16.

Severe infantile haemangioma: complications and treatment.

Heaton, Paul; Kennedy, Cameron; Amin, Sam.

J Paediatr Child Health ; 50(4): 325, 330, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-24698064

17.

Response to updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.

Amin, Sam; O'Callaghan, Finbar.

Eur J Paediatr Neurol ; 49: 129-130, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-38507891

18.

Quality of life in patients with Tuberous Sclerosis Complex (TSC).

Amin, Sam; Mallick, Andrew A; Lux, Andrew; O'Callaghan, Finbar.

Eur J Paediatr Neurol ; 23(6): 801-807, 2019 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-31543331

19.

Pharmacological management of abnormal tone and movement in cerebral palsy.

Lumsden, Daniel E; Crowe, Belinda; Basu, Anna; Amin, Sam; Devlin, Anita; DeAlwis, Yasmin; Kumar, Ram; Lodh, Rajib; Lundy, Claire T; Mordekar, Santosh R; Smith, Martin; Cadwgan, Jill.

Arch Dis Child ; 104(8): 775-780, 2019 08.

Artigo em Inglês | MEDLINE | ID: mdl-30948360

20.

Severity Assessment in CDKL5 Deficiency Disorder.

Demarest, Scott; Pestana-Knight, Elia M; Olson, Heather E; Downs, Jenny; Marsh, Eric D; Kaufmann, Walter E; Partridge, Carol-Anne; Leonard, Helen; Gwadry-Sridhar, Femida; Frame, Katheryn Elibri; Cross, J Helen; Chin, Richard F M; Parikh, Sumit; Panzer, Axel; Weisenberg, Judith; Utley, Karen; Jaksha, Amanda; Amin, Sam; Khwaja, Omar; Devinsky, Orrin; Neul, Jeffery L; Percy, Alan K; Benke, Tim A.

Pediatr Neurol ; 97: 38-42, 2019 08.

Artigo em Inglês | MEDLINE | ID: mdl-31147226

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