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Manton Center Publications
Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome
Journal of American Association Pediatric Ophthalmology and Strabismus. 2009 Jun;13(3):245-8.

Murillo-Correa CE, Kon-Jara V, Engle EC, Zenteno JC.
Department of Strabismus, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico.
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis
Muscle & Nerve. 2009 Jun;39(6):739-53.
Parker KC, Kong SW, Walsh RJ; Bch, Salajegheh M, Moghadaszadeh B, Amato AA, Nazareno R, Lin YY, Krastins B, Sarracino DA, Beggs AH, Pinkus JL, Greenberg SA
Harvard-Partners Center for Genetics and Genomics, Proteomics Core, Harvard Medical School, and The Manton Center for Orphan Disease Research, Boston, Massachusetts USA.
Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner
Journal of Neuroscience. 2009 May 6;29(18):5926-37.

Di Nardo A, Kramvis I, Cho N, Sadowski A, Meikle L, Kwiatkowski DJ, Sahin M
The F. M. Kirby Neurobiology Center, Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA.
Essential role for TRPC5 in amygdala function and fear-related behavior
Cell. 2009 May 15;137(4):761-72.
Riccio A, Li Y, Moon J, Kim KS, Smith KS, Rudolph U, Gapon S, Yao GL, Tsvetkov E, Rodig SJ, Van't Veer A, Meloni EG, Carlezon WA Jr, Bolshakov VY, Clapham DE
Department of Cardiology, Howard Hughes Medical Institute, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115, USA.
Surface antigen phenotypes of hematopoietic stem cells from embryos and murine embryonic stem cells
Blood. 2009 May 6. (Epub ahead of print)
McKinney-Freeman SL, Naveiras O, Yates F, Loewer S, Philitas M, Curran M, Park PJ, Daley GQ
Division of Pediatric Hematology/Oncology, The Manton Center for Orphan Disease Research, Stem Cell Transplantation Program, Children's Hospital, Boston, MA, United States.
Hv1 proton channels are required for high-level NADPH oxidase-dependent superoxide production during the phagocyte respiratory burst
Proceedings of the National Academy of Sciences. 2009 May 5;106(18):7642-7.
Ramsey IS, Ruchti E, Kaczmarek JS, Clapham DE
Howard Hughes Medical Institute, Department of Neurobiology, Harvard Medical School, and Department of Cardiovascular Research, The Manton Center for Orphan Disease Research, Children's Hospital, 320 Longwood Avenue, Boston, MA 02115, USA.
Intracellular calcium strongly potentiates agonist-activated TRPC5 channels
The Journal of General Physiology. 2009 May;133(5):525-46.
Blair NT, Kaczmarek JS, Clapham DE
Howard Hughes Medical Institute, Department of Cardiology and The Manton Center for Orphan Disease Research, Children's Hospital Boston, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency
Human Molecular Genetics. 2009 Apr 4. (Epub ahead of print)
Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H
Dept of Molecular and Cellular Biology, University of Arizona, Tucson, AZ 85724, USA, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.
The exon 55 deletion in the nebulin gene - One single founder mutation with world-wide occurrence.
Neuromuscular Disorders. 2009 Feb 14. (Epub ahead of print)
Lehtokari VL, Greenleaf RS, Dechene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C
The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.
Recent advances in Primary Immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes.
Pediatric Research. 2009 Jan 28. (Epub ahead of print)
Pessach I, Walter J, Notarangelo LD
Division of Immunology, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA; The Talpiot Medical Leadership Program, Sheba Medical Center, Tel Hashomer, 52621 Israel.
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
The American Journal of Human Genetics. 2008 Dec;83(6):769-80.
Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH
Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115, USA.


Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis.
The Journal of Experimental Medicine. 2008 Nov 24;205(12):2693-7.
Notarangelo LD, Pessach I
Division of Immunology, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.
Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain
Molecular Genetics and Metabolism. 2008 Sep-Oct;95(1-2):81-95.
Buccafusca R, Venditti CP, Kenyon LC, Johanson RA, VanBockstaele E, Ren J, Pagliardini S, Minarcik J, Golden JA, Coady MJ, Greer JJ, Berry GT
Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA.
Tuberous sclerosis complex proteins control axon formation
Genes & Development. 2008 Sep 15;22(18):2485-95.

Choi YJ, Di Nardo A, Kramvis I, Meikle L, Kwiatkowski DJ, Sahin M, He X
The F.M. Kirby Neurobiology Center, Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA.
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