Publications by authors named "Reuben Matalon"

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Therapeutic development for Canavan disease using patient iPSCs introduced with the wild-type gene.
Jianfei Chao, Lizhao Feng, Peng Ye, Xianwei Chen, Qi Cui, Reuben Matalon

iScience· June 2022

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Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.
Lizhao Feng, Jianfei Chao, E Tian, Li Li, Peng Ye, Reuben Matalon

Adv Sci (Weinh)· December 2020

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Identification of novel candidate disease genes from de novo exonic copy number variants.
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A Rosenfeld, Reuben Matalon

Genome Med· September 2017

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Redirecting -acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease.
Dominic J Gessler, Danning Li, Hongxia Xu, Qin Su, Julio Sanmiguel, Reuben Matalon

JCI Insight· February 2017

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Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
Gifty Bhat, Danielle LaGrave, Alison Millson, John Herriges, Allen N Lamb, Reuben Matalon

Eur J Med Genet· September 2016

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rAAV Gene Therapy in a Canavan's Disease Mouse Model Reveals Immune Impairments and an Extended Pathology Beyond the Central Nervous System.
Seemin Seher Ahmed, Stefan A Schattgen, Ashley E Frakes, Elif M Sikoglu, Qin Su, Reuben Matalon

Mol Ther· June 2016

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Acute Otitis Media and Other Complications of Viral Respiratory Infection.
Tasnee Chonmaitree, Rocio Trujillo, Kristofer Jennings, Pedro Alvarez-Fernandez, Janak A Patel, Reuben Matalon

Pediatrics· April 2016

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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
Przemyslaw Szafranski, Sailaja Golla, Weihong Jin, Ping Fang, Patricia Hixson, Reuben Matalon

Eur J Hum Genet· July 2015

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Polymorphisms of immunity genes and susceptibility to otitis media in children.
Johanna Nokso-Koivisto, Tasnee Chonmaitree, Kristofer Jennings, Reuben Matalon, Stan Block

PLoS One· June 2015

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Persistence of müllerian duct structures in a genetic male with distal monosomy 10q.
Mustafa Tosur, Cara A Geary, Reuben Matalon, Ravi S Radhakrishnan, Leonard E Swischuk

Am J Med Genet A· April 2015

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Localisation of N-acetylaspartate in oligodendrocytes/myelin.
Kaja Nordengen, Christoph Heuser, Johanne Egge Rinholm, Reuben Matalon, Vidar Gundersen

Brain Struct Funct· March 2015

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Multiple phenotypes in phosphoglucomutase 1 deficiency.
Laura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, Bobby G Ng, Marie-Estelle Losfeld, Reuben Matalon

N Engl J Med· February 2014

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A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan mice.
Seemin Seher Ahmed, Huapeng Li, Chunyan Cao, Elif M Sikoglu, Andrew R Denninger, Reuben Matalon

Mol Ther· December 2013

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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Patrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, Patricia Eng, Jayant Shenai, Reuben Matalon

Mol Cytogenet· April 2012

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A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia.
Jill K Northup, Reuben Matalon, Lillian H Lockhart, Judy C Hawkins, Gopalrao V N Velagaleti

Eur J Med Genet· October 2011

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Acute otitis media severity: association with cytokine gene polymorphisms and other risk factors.
David P McCormick, James J Grady, Alejandro Diego, Reuben Matalon, Krystal Revai

Int J Pediatr Otorhinolaryngol· May 2011

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Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease.
Stephen Zano, Radhika Malik, Sylvia Szucs, Reuben Matalon, Ronald E Viola

Mol Genet Metab· February 2011

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Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination.
Natalia S Mattan, Cristina A Ghiani, Marcia Lloyd, Reuben Matalon, Dean Bok

Neurobiol Dis· November 2010

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Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome.
Jill K Northup, Dena Matalon, Judy C Hawkins, Reuben Matalon, Gopalrao V N Velagaleti

Clin Dysmorphol· October 2010

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Neuronal localization of the mitochondrial protein NIPSNAP1 in rat nervous system.
Manisha Nautiyal, Andrew J Sweatt, James A MacKenzie, R Mark Payne, Sylvia Szucs, Reuben Matalon

Eur J Neurosci· August 2010

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Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease.
Shalini Kumar, Juan Carlos Biancotti, Reuben Matalon, Jean de Vellis

J Neurosci Res· November 2009

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When should children be tested for genetic diseases?
Amanda A Trott, Reuben Matalon

Pediatrics· October 2009

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Fragile X syndrome.
Eriel Wallace Hayes, Reuben Matalon

Pediatrics· August 2009

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Association between cytokine gene polymorphisms and risk for upper respiratory tract infection and acute otitis media.
Krystal Revai, Janak A Patel, James J Grady, Sangeeta Nair, Reuben Matalon

Clin Infect Dis· July 2009

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First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies.
Jill K Northup, Kären E Wain, Judy C Hawkins, Reuben Matalon, Gopalrao V N Velagaleti

Am J Med Genet A· October 2008

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