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1

Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system

Reuben Matalon, Peter L. Rady, Kenneth A. Platt, Henry B. Skinner, Michael J. Quast, Gerald A. Campbell, Kimberlee Matalon, Jeffrey D. Ceci, Stephen K. Tyring, Michael Nehls, Sankar Surendran, Jingna

Journal:

The Journal of Gene Medicine

Year:

2000

Language:

english

File:

PDF, 544 KB

english, 2000

2

High level of orexin A observed in the phenylketonuria mouse brain is due to the abnormal expression of prepro-orexin

Sankar Surendran, Peter L Rady, Sylvia Szucs, Kimberlee Michals-Matalon, Stephen K Tyring, Reuben Matalon

Journal:

Biochemical and Biophysical Research Communications

Year:

2004

Language:

english

File:

PDF, 120 KB

english, 2004

3

Fragile X syndrome in two siblings with major congenital malformations

Giampietro, Philip F., Haas, Bruce R., Lipper, Evelyn, Gutman, Alyson, Zellers, Nancy J., LaTrenta, Gregory S., Brooks, Susan Sklower, Matalon, Reuben, Kaul, Rajinder, Ding, Xiao-Hua, Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 530 KB

1996

4

Maternal phenylketonuria collaborative study (MPKUCS) offspring: Facial anomalies, malformations, and early neurological sequelae

Rouse, Bobbye, Azen, Colleen, Koch, Richard, Matalon, Reuben, Hanley, William, de la Cruz, Felix, Trefz, Friedrich, Friedman, Eva, Shifrin, Harvey

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 158 KB

english, 1997

5

Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome

Jaquez, Marisela, Driscoll, Deborah A., Li, Mengrong, Emanuel, Beverly S., Hernandez, Isabel, Jaquez, Fransisca, Lembert, Nicolas, Ramirez, Joanny, Matalon, Reuben

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 654 KB

english, 1997

6

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

Byers, Peter H., Duvic, Madeleine, Atkinson, Mary, Robinow, Meinhard, Smith, Lynne T., Krane, Stephen M., Greally, Marie T., Ludman, Mark, Matalon, Reuben, Pauker, Susan, Quanbeck, Deborah, Schwarze,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 894 KB

english, 1997

7

Methylenetetrahydrofolate reductase (MTHFR): The incidence of mutations C677T and A1298C in the Ashkenazi Jewish population

Rady, Peter L., Tyring, Stephen K., Hudnall, S. David, Vargas, Trini, Kellner, Leonard H., Nitowsky, Harold, Matalon, Reuben K.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 131 KB

english, 1999

8

Novel missense mutation (Y231C) in a Turkish patient with Canavan disease

Rady, Peter L., Vargas, Trini, Tyring, Stephen K., Matalon, Reuben, Langenbeck, Ulrich

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 405 KB

english, 1999

9

Prenatal diagnosis of Canavan disease

Reuben Matalon, Kimberlee Michals-Matalon

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 90 KB

english, 1999

10

Congenital heart disease in maternal phenylketonuria: Effects of blood phenylalanine and nutrient intake

Kimberlee Michals Matalon, Phyllis Acosta, Colleen Azen, Reuben Matalon

Journal:

Development Diabilities Research Reviews

Year:

1999

Language:

english

File:

PDF, 49 KB

english, 1999

11

Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A

Peter L. Rady, Sylvia Szucs, James Grady, S. David Hudnall, Leonard H. Kellner, Harold Nitowsky, Stephen K. Tyring, Reuben K. Matalon

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 137 KB

english, 2002

12

A therapeutic trial of amniotic epithelial cell implantation in patients with lysosomal storage diseases

Dr. Andrew M. Yeager, Harvey S. Singer, James R. Buck, Reuben Matalon, Susan Brennan, Susan O'Donnell O'Toole, Hugo W. Moser, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 596 KB

english, 1985

13

Dominant inheritance of a syndrome similar to Rubinstein-Taybi

Patricia Cotsirilos, JoEllyn C. Taylor, Reuben Matalon, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 622 KB

english, 1987

14

Simpson-Golabi-Behmel syndrome: Follow-up of the michigan family

John M. Opitz, Jürgen Herrmann, Enid F. Gilbert, Reuben Matalon

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 486 KB

english, 1988

15

Reply to Drs. Divry and Mathieu

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 52 KB

english, 1989

16

Transmission of ring 14 chromosome from mother to two sons

Reuben Matalon, Peggy Supple, Herman Wyandt, Ira M. Rosenthal

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 428 KB

english, 1990

17

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

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 161 KB

english, 2008

18

DOOR syndrome: Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex

Sankar Surendran, Kimberlee Michals-Matalon, Stephan Krywawych, Qutub H. Qazi, Roberto Tuchman, Peter L. Rady, Stephan K. Tyring, Reuben Matalon

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 144 KB

english, 2002

19

Analysis of the pentafluorobenzoyl derivative of phenylethylamine utilizing negative ion chemical ionization and gas chromatography/mass spectrometry

Peter Gashkoff, Reuben Matalon, Vincent Papa, Dana Sebasta

Journal:

Biological Mass Spectrometry = Journal of Mass Spectrometry (Wiley)

Year:

1988

Language:

english

File:

PDF, 212 KB

english, 1988

20

Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease

Rajinder Kaul, Guang P. Gao, Kimberlee Michals, Donald T. Whelan, Simon Levin, Reuben Matalon

Journal:

Year:

1995

Language:

english

File:

PDF, 587 KB

english, 1995

21

Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene

Sankar Surendran, Katherine A. Sacksteder, Stephen J. Gould, James G. Coldwell, Peter L. Rady, Stephan K. Tyring, Reuben Matalon

Journal:

Journal of Neuroscience Research

Year:

2001

Language:

english

File:

PDF, 109 KB

english, 2001

22

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

Journal:

Journal of Neuroscience Research

Year:

2009

Language:

english

File:

PDF, 880 KB

english, 2009

23

Canavan disease

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1996

Language:

english

File:

PDF, 241 KB

english, 1996

24

Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome

K. Wong, Regina C. Armstrong, Kymberly A. Gyure, Alan L. Morrison, Diana Rodriguez, Reuben Matalon, Anne B. Johnson, Robert Wollmann, Enid Gilbert, Tuan Q. Le, Courtney A. Bradley, Kevin Crutchfield,

Journal:

Acta Neuropathologica

Year:

2000

Language:

english

File:

PDF, 618 KB

english, 2000

25

Phenylketonuria: screening, treatment and maternal PKU

Reuben Matalon, Kimberlee Michals

Journal:

Clinical Biochemistry

Year:

1991

Language:

english

File:

PDF, 541 KB

english, 1991

26

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, Reidar Wallin, Susan M. Hutson

Journal:

European Journal of Neuroscience

Year:

2010

Language:

english

File:

PDF, 940 KB

english, 2010

27

Purification, Characterization, and Localization of Aspartoacylase from Bovine Brain

Rajinder Kaul, Jose Casanova, Anne B. Johnson, Peter Tang, Reuben Matalon

Journal:

Journal of Neurochemistry

Year:

1991

Language:

english

File:

PDF, 682 KB

english, 1991

28

Bimodal occurrence of aspartoacylase in myelin and cytosol of brain

Jianfeng Wang, Reuben Matalon, Gita Bhatia, Gusheng Wu, Hong Li, Tong Liu, Zi-Hua Lu, Robert W. Ledeen

Journal:

Journal of Neurochemistry

Year:

2007

Language:

english

File:

PDF, 664 KB

english, 2007

29

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

Kaul, Rajinder, Ping Gao, Guang, Balamurugan, Kuppareddi, Matalon, Reuben

Journal:

Nature Genetics

Year:

1993

File:

PDF, 720 KB

1993

30

Biochemistry and Molecular Biology of Canavan Disease

Reuben Matalon, Kimberlee Michals-Matalon

Journal:

Neurochemical Research

Year:

1999

Language:

english

File:

PDF, 1.86 MB

english, 1999

31

Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A)

Mami Iwamoto, Yoshiaki Nawa, Irene H. Maumenee, Joy Young-Ramsaran, Reuben Matalon, W. Richard Green

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

1990

Language:

english

File:

PDF, 2.76 MB

english, 1990

32

Plasma amino acid patterns in very low birth weight infants during parenteral nutrition

Gopal Srinivasan, Abbasian Amin, Rosita S. Pildes, Lawrence D. Lilien, Reuben Matalon

Journal:

Indian Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 273 KB

english, 1990

33

Phenylalanine metabolites as indicators of dietary compliance in children with phenylketonuria

Kimberlee Michals, Mary Lopus, Reuben Matalon

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1988

Language:

english

File:

PDF, 378 KB

english, 1988

34

Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity

P.Suzanne Hart, Brian O. Barnstein, Julie R. Secor McVoy, Reuben Matalon, Barry Wolf

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1992

Language:

english

File:

PDF, 330 KB

english, 1992

35

Aspartoacylase deficiency does not affect N-acetylaspartylglutamate level or glutamate carboxypeptidase II activity in the knockout mouse brain

Sankar Surendran, Edward L Ezell, Michael J Quast, Jingna Wei, Stephen K Tyring, Kimberlee Michals-Matalon, Reuben Matalon

Journal:

Year:

2004

Language:

english

File:

PDF, 156 KB

english, 2004

36

Mouse neural progenitor cells differentiate into oligodendrocytes in the brain of a knockout mouse model of Canavan disease

Sankar Surendran, Lamya S. Shihabuddin, Jennifer Clarke, Tatyana V. Taksir, Gregory R. Stewart, Geoffrey Parsons, Wendy Yang, Stephen K. Tyring, Kimberlee Michals-Matalon, Reuben Matalon

Journal:

Developmental Brain Research

Year:

2004

Language:

english

File:

PDF, 1.15 MB

english, 2004

37

Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination

Natalia S. Mattan, Cristina A. Ghiani, Marcia Lloyd, Reuben Matalon, Dean Bok, Patrizia Casaccia, Jean de Vellis

Journal:

Neurobiology of Disease

Year:

2010

Language:

english

File:

PDF, 2.75 MB

english, 2010

38

Aspartoacylase gene knockout in the mouse: Impact on reproduction

Sankar Surendran, Sylvia Szucs, Stephen K. Tyring, Reuben Matalon

Journal:

Reproductive Toxicology

Year:

2005

Language:

english

File:

PDF, 53 KB

english, 2005

39

The International Study of Pregnancy Outcome in Women with Maternal Phenylketonuria: Report of a 12-year study

Lawrence D. Platt, Richard Koch, William B. Hanley, Harvey L. Levy, Reuben Matalon, Bobbye Rouse, Fritz Trefz, Felix de la Cruz, Flemming Güttler, Colleen Azen, Eva Gross Friedman b

Journal:

American Journal of Obstetrics and Gynecology

Year:

2000

Language:

english

File:

PDF, 181 KB

english, 2000

40

Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome

Gopalrao V.N Velagaleti, Anil Kumar, Lillian H Lockhart, Reuben Matalon

Journal:

Annales de Génétique

Year:

2000

Language:

english

File:

PDF, 114 KB

english, 2000

41

Molecular basis of Canavan disease

Reuben Matalon, Kimberlee Michals-Matalon

Journal:

European Journal of Paediatric Neurology

Year:

1998

Language:

english

File:

PDF, 2.58 MB

english, 1998

42

Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease

Peter L Rady, JM Penzien, Trini Vargas, Stephen K Tyring, Reuben Matalon

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 226 KB

english, 2000

43

Elevated serum sialic acid in idiopathic acute iridocyclitis

Sheridan Lam, Howard H. Tessler, Marilyn D. Farber, Reuben Matalon, Minerva N. Deaching, Daniel S. Rychlik, Byron L. Lam

Journal:

Acta Ophthalmologica (Blackwell)

Year:

1993

Language:

english

File:

PDF, 184 KB

english, 1993

44

Sanfilippo disease in Greece

Nicholas G. Beratis, Susan L. Sklower, Lorraine Wilbur, Reuben Matalon

Journal:

Clinical Genetics

Year:

1986

Language:

english

File:

PDF, 293 KB

english, 1986

45

Gene therapy for metachromatic leukodystrophy

TOYA OHASHI, KAZUHIKO WATABE, YUMI SATO, IZUMU SAITO, JOHN A BARRANGER, REUBEN MATALON, YOSHIKATSU ETO

Journal:

Pediatrics International

Year:

1996

Language:

english

File:

PDF, 785 KB

english, 1996

46

Canavan Disease: Genomic Organization and Localization of Human ASPA to 17p13-ter and Conservation of the ASPA Gene during Evolution

Rajinder Kaul, K. Balamurugan, Guang P. Gao, Reuben Matalon

Journal:

Year:

1994

File:

PDF, 566 KB

1994

47

Genetic Polymorphism (G80A) of Reduced Folate Carrier Gene in Ethnic Populations

Peter L. Rady, Sylvia Szucs, Reuben K. Matalon, James Grady, S.David Hudnall, Leonard H. Kellner, Harold Nitowsky

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 29 KB

english, 2001

48

The Hurler and Hunter syndromes

Albert Dorfman, Reuben Matalon

Journal:

The American Journal of Medicine

Year:

1969

Language:

english

File:

PDF, 1.84 MB

english, 1969

49

Glucose-6-phosphatase as a marker for tumors of liver and kidney origin

Kimberlee Michals, Kevin Pringle, Emily J.M. Pang, Reuben Matalon

Journal:

Biochemical Medicine

Year:

1983

Language:

english

File:

PDF, 217 KB

english, 1983

50

Upregulation of aspartoacylase activity in the duodenum of obesity induced diabetes mouse: Implications on diabetic neuropathy

Sankar Surendran, Reuben Matalon, Stephen K. Tyring

Journal:

Biochemical and Biophysical Research Communications

Year:

2006

Language:

english

File:

PDF, 214 KB

english, 2006