Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
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Article Information
- Received August 26, 2020
- Accepted in final form October 22, 2020
- First Published December 29, 2020.
Author Disclosures
- Marvin Ziegler (marvin.ziegler{at}childrens.harvard.edu),
- Bianca E. Russell, MD (berussell{at}mednet.ucla.edu),
- Kathrin Eberhardt (eberhardt.kathrin{at}hotmail.de),
- Gregory Geisel, BS (gregory.geisel{at}childrens.harvard.edu),
- Angelica D'Amore, PhD (angelica.damore{at}childrens.harvard.edu),
- Mustafa Sahin, MD, PhD (mustafa.sahin{at}childrens.harvard.edu),
- Harley I. Kornblum, MD, PhD (hkornblum{at}mednet.ucla.edu) and
- Darius Ebrahimi-Fakhari, MD, PhD
- Marvin Ziegler (marvin.ziegler{at}childrens.harvard.edu),
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(1) German National Academic Foundation (2) German Academic Exchange Service (DAAD)
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- Bianca E. Russell, MD (berussell{at}mednet.ucla.edu),
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1. Bohring-Opitz Syndrome Foundation 2. ASXL Rare Research Endowment
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- Kathrin Eberhardt (eberhardt.kathrin{at}hotmail.de),
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- Gregory Geisel, BS (gregory.geisel{at}childrens.harvard.edu),
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- Angelica D'Amore, PhD (angelica.damore{at}childrens.harvard.edu),
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University of Siena (Pegaso Scholarship)
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- Mustafa Sahin, MD, PhD (mustafa.sahin{at}childrens.harvard.edu),
1) Sage Therapeutics: member of the Scientific Advisory Board 2) Takeda: member of the Scientific Advisory Board 3) Roche: member of Scientific Advisory Board
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1) Pediatric Neurology, Associate Editor, 2013-present
1) ÂUSE OF HEAT SHOCK PROTEIN INHIBITORS FOR THE TREATMENT OF NEURODEVELOPMENTAL DISORDERS, as set forth in U.S. Provisional Patent Application No.: 63/037,946, filed on June 11, 2020
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1) Celgene 2) Aeovian 3) Regenexbio
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(1) Novartis (2) Roche (3) Pfizer (4) LAM Therapeutics (5) Neuren (6) Ibsen (7) Rugen (8) Quadrant Biosciences (9) Astellas (10) Bridgebio
1) NIH 1U01NS082320-01 (Sahin, M., and Krueger D, P.I.s) 09/01/12 - 08/31/18 2) NIH 5U01NS092595 (Bebin, M., P.I. Â Uni of Alabama at Birmingham) 07/01/15 -06/31/20 Sahin Role- co-investigator 3) NIH/NICHD U54HD090255(Pomeroy, PI) 09/29/11-6/30/16 Intellectual and Developmental Disabilities Research Center Sahin Role: Associate Director 4) NIH 5U54NS092090-04 (Sahin, M. PI) 09/30/14 - 07/31/19 Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations
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1) Tuberous Sclerosis Alliance 2) Autism Speaks 3) Nancy Lurie Marks Foundation 4) PTEN Research 5) Simons Foundation
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- Harley I. Kornblum, MD, PhD (hkornblum{at}mednet.ucla.edu) and
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Molecular and Cellular Proteomics, Editorial Board member,0current,
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- Darius Ebrahimi-Fakhari, MD, PhD
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(1) Honorarium for speaking at the Movement Disorder International Congress in 2019.
(1) Section editor: Neuropediatrics
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(1) Editor of Movement Disorders and Inherited Metabolic Disorders Recognition, Understanding, Improving Outcomes; Cambridge University Press; Online ISBN: 9781108556767
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(1) CureAP4 Foundation (2) CureSPG50 Foundation (3) Spastic Paraplegia Foundation (4) Thrasher Research Fund
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- From the Department of Neurology and The F.M. Kirby Neurobiology Center (M.Z., K.E., G.G., A.D., M.S., D.E.-F.), Boston Children's Hospital, Harvard Medical School, MA; Department of Functional Neuroanatomy (M.Z.), Institute of Anatomy and Cell Biology, Heidelberg University, Germany; Division of Genetics (B.E.R.), Department of Pediatrics, David Geffen School of Medicine at UCLA; Translational Neuroscience Center (G.G., M.S.), Boston Children's Hospital, Harvard Medical School, MA; and Intellectual and Developmental Disabilities Research Center (H.I.K.), Semel Institute for Neuroscience and Human Behavior and Department of Psychiatry and Biobehavioral Sciences (H.I.K.), David Geffen School of Medicine at UCLA.
- Correspondence
Dr. Ebrahimi-Fakhari darius.ebrahimi-fakhari{at}childrens.harvard.edu
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