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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1991 1
1992 1
1993 2
1995 1
1996 2
1997 2
1998 8
1999 8
2000 3
2001 6
2002 5
2003 12
2004 9
2005 11
2006 10
2007 13
2008 14
2009 12
2010 14
2011 16
2012 15
2013 20
2014 17
2015 27
2016 27
2017 22
2018 24
2019 17
2020 27
2021 32
2022 38
2023 24
2024 12

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393 results

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Page 1
How autophagy controls the intestinal epithelial barrier.
Foerster EG, Mukherjee T, Cabral-Fernandes L, Rocha JDB, Girardin SE, Philpott DJ. Foerster EG, et al. Autophagy. 2022 Jan;18(1):86-103. doi: 10.1080/15548627.2021.1909406. Epub 2021 Apr 27. Autophagy. 2022. PMID: 33906557 Free PMC article. Review.
Here, we review the physiological role of autophagy in the context of intestinal epithelial maintenance and how genetic mutations affecting autophagy contribute to the development of intestinal disease.Abbreviations: AKT1S1: AKT1 substrate 1; AMBRA1: autophagy and beclin 1 …
Here, we review the physiological role of autophagy in the context of intestinal epithelial maintenance and how genetic mutations aff …
Tuberous sclerosis complex.
Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA. Henske EP, et al. Nat Rev Dis Primers. 2016 May 26;2:16035. doi: 10.1038/nrdp.2016.35. Nat Rev Dis Primers. 2016. PMID: 27226234 Review.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. ...Major features of the disease include tumours of the brain, skin, heart, lungs and kidne …
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-funct …
Tuberous Sclerosis Complex: A Review.
Randle SC. Randle SC. Pediatr Ann. 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01. Pediatr Ann. 2017. PMID: 28414398 Review.
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartoma …
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This …
Tuberous Sclerosis Complex.
Islam MP. Islam MP. Semin Pediatr Neurol. 2021 Apr;37:100875. doi: 10.1016/j.spen.2021.100875. Epub 2021 Feb 11. Semin Pediatr Neurol. 2021. PMID: 33892851 Review.
Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular proliferation and migration …
Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only …
Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management.
McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX. McCarthy C, et al. Lancet Respir Med. 2021 Nov;9(11):1313-1327. doi: 10.1016/S2213-2600(21)00228-9. Epub 2021 Aug 27. Lancet Respir Med. 2021. PMID: 34461049 Review.
The invading cell in LAM arises from an unknown source and harbours mutations in tuberous sclerosis complex (TSC) genes that result in constitutive activation of the mechanistic target of rapamycin (mTOR) pathway, dysregulated cellular proliferation, and a programme of fru …
The invading cell in LAM arises from an unknown source and harbours mutations in tuberous sclerosis complex (TSC) genes that result i …
Tuberous sclerosis: a review of the past, present, and future.
Uysal SP, Şahin M. Uysal SP, et al. Turk J Med Sci. 2020 Nov 3;50(SI-2):1665-1676. doi: 10.3906/sag-2002-133. Turk J Med Sci. 2020. PMID: 32222129 Free PMC article. Review.
TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. ...The TAND checklist is a useful tool for routine use in the clinical evaluation of TSC patients. A multidisciplinary treatment plan, based on the specific problems an …
TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. ...The TAND checklist is a useful t …
A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders.
Bagni C, Zukin RS. Bagni C, et al. Neuron. 2019 Mar 20;101(6):1070-1088. doi: 10.1016/j.neuron.2019.02.041. Neuron. 2019. PMID: 30897358 Free PMC article. Review.
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS), autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are therefore classified as synaptopathies. FXS and ASDs, while clinically and genetically distinct, …
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS), autism spectrum disorders (ASDs), and other intelle …
Lymphangioleiomyomatosis.
Xu KF, Xu W, Liu S, Yu J, Tian X, Yang Y, Wang ST, Zhang W, Feng R, Zhang T. Xu KF, et al. Semin Respir Crit Care Med. 2020 Apr;41(2):256-268. doi: 10.1055/s-0040-1702195. Epub 2020 Apr 12. Semin Respir Crit Care Med. 2020. PMID: 32279296 Review.
Two forms of LAM present clinically, sporadic (S-LAM) and tuberous sclerosis complex-associated (TSC-LAM). TSC is an autosomal dominant genetic multisystems neoplastic disease. ...Both LAM and TSC are TSC2 or TSC1 mutated diseases that result in overac …
Two forms of LAM present clinically, sporadic (S-LAM) and tuberous sclerosis complex-associated (TSC-LAM). TSC is an autosomal …
Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.
Specchio N, Nabbout R, Aronica E, Auvin S, Benvenuto A, de Palma L, Feucht M, Jansen F, Kotulska K, Sarnat H, Lagae L, Jozwiak S, Curatolo P. Specchio N, et al. Eur J Paediatr Neurol. 2023 Nov;47:25-34. doi: 10.1016/j.ejpn.2023.08.005. Epub 2023 Aug 30. Eur J Paediatr Neurol. 2023. PMID: 37669572 Free article. Review.
Drug resistance is seen early in many patients, and the management of TSC associated epilepsy remain a major challenge for clinicians. In 2018 clinical recommendations for the management of TSC associated epilepsy were published by a panel of European experts. ...
Drug resistance is seen early in many patients, and the management of TSC associated epilepsy remain a major challenge for clinicians …
393 results