PMC Articles for MedGen (Select 1841043) - PMC

Published in final edited form as: Expert Opin Pharmacother. 2011 Oct; 12(14): 2265–2269. Published online 2011 Aug 1. doi: 10.1517/14656566.2011.601742

PMCID:: PMC3389821

Abstract Article PDF–91K

Select item 33984415.

Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis

John J. Bissler, Francis X. McCormack, Lisa R. Young, Jean M. Elwing, Gail Chuck, Jennifer M. Leonard, Vincent J. Schmithorst, Tal Laor, Alan S. Brody, Judy Bean, Shelia Salisbury, David N. Franz

N Engl J Med. Author manuscript; available in PMC 2012 Jul 17.

Published in final edited form as: N Engl J Med. 2008 Jan 10; 358(2): 140–151. doi: 10.1056/NEJMoa063564

PMCID:: PMC3398441

Abstract Article PDF–698K

Select item 36575406.

Differential expression of interferon-γ and chemokine genes distinguishes Rasmussen encephalitis from cortical dysplasia and provides evidence for an early Th1 immune response

Geoffrey C Owens, My N Huynh, Julia W Chang, David L McArthur, Michelle J Hickey, Harry V Vinters, Gary W Mathern, Carol A Kruse

J Neuroinflammation. 2013; 10: 56. Published online 2013 May 2. doi: 10.1186/1742-2094-10-56

PMCID:: PMC3657540

Abstract Article PDF–2.4M

Select item 40392917.

Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

Claudia Gonzaga-Jauregui, Timothy Lotze, Leila Jamal, Samantha Penney, Ian M. Campbell, Davut Pehlivan, Jill V. Hunter, Suzanne L. Woodbury, Gerald Raymond, Adekunle M. Adesina, Shalini N. Jhangiani, Jeffrey G. Reid, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Richard A. Gibbs, Wojciech Wiszniewski

JAMA Neurol. Author manuscript; available in PMC 2014 May 30.

Published in final edited form as: JAMA Neurol. 2013 Dec; 70(12): 1491–1498. doi: 10.1001/jamaneurol.2013.4598

PMCID:: PMC4039291

Abstract Article PDF–1.1M

Select item 42235708.

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex

Katarzyna Kotulska, Julita Borkowska, Marek Mandera, Marcin Roszkowski, Elzbieta Jurkiewicz, Wiesława Grajkowska, Małgorzata Bilska, Sergiusz Jóźwiak

Childs Nerv Syst. 2014; 30(12): 2037–2042. Published online 2014 Sep 17. doi: 10.1007/s00381-014-2555-8

PMCID:: PMC4223570

Abstract Article PDF–443K

Select item 43851819.

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

Sophie Scheidecker, Christelle Etard, Laurence Haren, Corinne Stoetzel, Sarah Hull, Gavin Arno, Vincent Plagnol, Séverine Drunat, Sandrine Passemard, Annick Toutain, Cathy Obringer, Mériam Koob, Véronique Geoffroy, Vincent Marion, Uwe Strähle, Pia Ostergaard, Alain Verloes, Andreas Merdes, Anthony T. Moore, Hélène Dollfus

Am J Hum Genet. 2015 Apr 2; 96(4): 666–674. doi: 10.1016/j.ajhg.2015.02.011

PMCID:: PMC4385181

Abstract Article PDF–1.5M

Select item 479520010.

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2

David J Kwiatkowski, Michael R Palmer, Sergiusz Jozwiak, John Bissler, David Franz, Scott Segal, David Chen, Julian R Sampson

Eur J Hum Genet. 2015 Dec; 23(12): 1665–1672. Published online 2015 Mar 18. doi: 10.1038/ejhg.2015.47

PMCID:: PMC4795200

Abstract Article PDF–2.3M

Select item 1077207211.

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

Eyyup Uctepe, Barbara Vona, Fatma Nisa Esen, F. Mujgan Sonmez, Thomas Smol, Sait Tümer, Hanifenur Mancılar, Dilan Ece Geylan Durgun, Odile Boute, Meysam Moghbeli, Ehsan Ghayoor Karimiani, Narges Hashemi, Behnoosh Bakhshoodeh, Hyung Goo Kim, Reza Maroofian, Ahmet Yesilyurt

Eur J Hum Genet. 2024 Jan; 32(1): 52–60. Published online 2023 Oct 26. doi: 10.1038/s41431-023-01461-2

PMCID:: PMC10772072

Abstract Article PDF–2.1M

Select item 492127512.

Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations from the 2015 Strategic Planning Conference

Mustafa Sahin, Elizabeth P. Henske, Brendan D. Manning, Kevin C. Ess, John J. Bissler, Eric Klann, David J. Kwiatkowski, Steven L. Roberds, Alcino J. Silva, Coryse St. Hillaire-Clarke, Lisa R. Young, Mark Zervas, Laura A. Mamounas

Pediatr Neurol. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: Pediatr Neurol. 2016 Jul; 60: 1–12. Published online 2016 Apr 2. doi: 10.1016/j.pediatrneurol.2016.03.015

PMCID:: PMC4921275

Abstract Article PDF–168K

Select item 549835113.

Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex

Joshua A. Samuels

Clin J Am Soc Nephrol. 2017 Jul 7; 12(7): 1196–1202. Published online 2017 Mar 16. doi: 10.2215/CJN.08150816

PMCID:: PMC5498351

Abstract Article

Select item 554657514.

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa

PLoS One. 2017; 12(8): e0181791. Published online 2017 Aug 7. doi: 10.1371/journal.pone.0181791

PMCID:: PMC5546575

Abstract Article PDF–4.9M

Select item 569764815.

Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex

Theresa Scholl, Angelika Mühlebner, Gerda Ricken, Victoria Gruber, Anna Fabing, Sharon Samueli, Gudrun Gröppel, Christian Dorfer, Thomas Czech, Johannes A. Hainfellner, Avanita S. Prabowo, Roy J. Reinten, Lisette Hoogendijk, Jasper J. Anink, Eleonora Aronica, Martha Feucht

Brain Pathol. 2017 Nov; 27(6): 770–780. Published online 2017 Feb 9. doi: 10.1111/bpa.12452

PMCID:: PMC5697648

Abstract Article PDF–725K

Select item 830319316.

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli

Genes (Basel) 2021 Jul; 12(7): 962. Published online 2021 Jun 24. doi: 10.3390/genes12070962

PMCID:: PMC8303193

Abstract Article PDF–1.6M

Select item 963066017.

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed, Kristy Zeng, Meredith Hiller, Emily Bryant, Divakar S Mithal, Irena Bellinski, Lisa Kinsley, Mona Grimmel, Eva M C Schwaibold, Constance Smith-Hicks, Anna Chassevent, Marcello Scala, Andrea Accogli, Annalaura Torella, Pasquale Striano, Valeria Capra, Lynne M Bird, Issam Ben-Sahra, Nina Ekhilevich, Tova Hershkovitz, Karin Weiss, John Millichap, Elizabeth E Gerard, Gemma L Carvill

Brain. 2022 Jun; 145(6): 1939–1948. Published online 2022 Jun 3. doi: 10.1093/brain/awab451

Correction in:: Brain. 2023 Aug; 146(8): e61.

PMCID:: PMC9630660

Abstract Article PDF–727K

Select item 976294418.

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

Siddharth Banka, Abigail Bennington, Martin J Baker, Ellen Rijckmans, Giuliana D Clemente, Nurhuda Mohamad Ansor, Hilary Sito, Pritha Prasad, Kwame Anyane-Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna C E Hurst, Anna C Jansen, Melissa A Kelly, Ian Krantz, Claudine Rieubland, Meredith Ross, Natasha L Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G Kazanietz, Tom H Millard

Brain. 2022 Dec; 145(12): 4232–4245. Published online 2022 Feb 10. doi: 10.1093/brain/awac049

PMCID:: PMC9762944

Abstract Article PDF–1.3M

Select item 1076624219.

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Hashem Almousa, Sara A Lewis, Somayeh Bakhtiari, Sandra Hinz Nordlie, Alex Pagnozzi, Helen Magee, Stephanie Efthymiou, Jennifer A Heim, Patricia Cornejo, Maha S Zaki, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Derek E Neilson, Anusha Vemuri, Sheng Chih Jin, Xiao-Ru Yang, Abolfazl Heidari, Koen van Gassen, Aurélien Trimouille, Christel Thauvin-Robinet, James Liu, Ange-Line Bruel, Hoda Tomoum, Mennatallah O Shata, Mais O Hashem, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Gözde Yeşil, Lokesh Lingappa, Debangana Baruah, Farnoosh Ebrahimzadeh, Julien Van-Gils, Laurence Faivre, Mina Zamani, Hamid Galehdari, Saeid Sadeghian, Gholamreza Shariati, Rahema Mohammad, Jasper van der Smagt, Alya Qari, John B Vincent, A Micheil Innes, Ali Dursun, R Köksal Özgül, Halil Tuna Akar, Kaya Bilguvar, Cyril Mignot, Boris Keren, Claudia Raveli, Lydie Burglen, Alexandra Afenjar, Laura Donker Kaat, Marjon van Slegtenhorst, Fowzan Alkuraya, Henry Houlden, Sergio Padilla-Lopez, Reza Maroofian, Michael Sacher, Michael C Kruer

Brain. 2024 Jan; 147(1): 311–324. Published online 2023 Sep 15. doi: 10.1093/brain/awad301

PMCID:: PMC10766242

Abstract Article PDF–926K

Select item 507079920.

Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model

Shilpa Prabhakar, Xuan Zhang, June Goto, Sangyeul Han, Charles Lai, Roderick Bronson, Miguel Sena-Esteves, Vijaya Ramesh, Anat Stemmer-Rachamimov, David J. Kwiatkowski, Xandra O. Breakefield

Neurobiol Dis. Author manuscript; available in PMC 2016 Oct 19.

Published in final edited form as: Neurobiol Dis. 2015 Oct; 82: 22–31. Published online 2015 May 24. doi: 10.1016/j.nbd.2015.04.018

PMCID:: PMC5070799

Abstract Article PDF–1.4M

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