Tyler Mark Pierson

Tyler Mark Pierson

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Tyler Mark Pierson

Tyler Mark Pierson

Publications by authors named "Tyler Mark Pierson"

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.

Neuromuscul Disord 2015 Dec 16;25(12):959-63. Epub 2015 Sep 16.

Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.09.007DOI Listing
December 2015

Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies.

Neurol Genet 2015 Dec 16;1(4):e34. Epub 2015 Nov 16.

David Geffen School of Medicine at UCLA (C.S.), Los Angeles, CA; and Division of Clinical Neuroradiology and Interventional Neuroradiology (F.M.), Division of Clinical Genetics and Dysmorphology (J.M.G.), Department of Pediatrics (J.M.G., V.W.), Department of Pediatrics and Neurology (T.M.P.), and Board of Governors Regenerative Medicine Institute (T.M.P.), Cedars-Sinai Medical Center, Los Angeles, CA.

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http://dx.doi.org/10.1212/NXG.0000000000000034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811382PMC
December 2015

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.

Hum Mol Genet 2014 Nov 6;23(21):5638-48. Epub 2014 Jun 6.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189900PMC
November 2014

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Ann Clin Transl Neurol 2014 Jun;1(6):379-389

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA ; NIH Undiagnosed Diseases Program, National Institutes of Health, Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, MD, USA ; Departments of Pediatrics and Neurology, and the Regenerative Medicine Institute, Cedars- Sinai Medical Center, Los Angeles, CA, USA.

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http://doi.wiley.com/10.1002/acn3.64
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http://dx.doi.org/10.1002/acn3.64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078876PMC
June 2014

mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Ann Clin Transl Neurol 2014 Mar;1(3):190-198

NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/acn3.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019449PMC
March 2014

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.

Neuromuscul Disord 2011 May 25;21(5):353-5. Epub 2011 Feb 25.

NIH Undiagnosed Diseases Program, NIH Office of Rare Disease, Research and NHGRI, Bethesda, MD 20892-3705, USA.

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http://dx.doi.org/10.1016/j.nmd.2011.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085694PMC
May 2011

Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings.

Mol Genet Metab 2011 Feb 28;102(2):207-9. Epub 2010 Oct 28.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053057PMC
February 2011