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51

The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background

Abrar Hussain, Joy Armistead, Lara Gushulak, Christa Kruck, Steven Pind, Barbara Triggs-Raine, Marvin R. Natowicz

Journal:

Biochemical and Biophysical Research Communications

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

52

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

Randall Heidenreich, Marvin Natowicz, Bryan E. Hainline, Peter Berman, Richard I. Kelley, Richard E. Hillman, Gerard T. Berry

Journal:

The Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 1.68 MB

english, 1988

53

Brain Transcriptional and Epigenetic Associations with Autism

Ginsberg, Matthew R., Rubin, Robert A., Falcone, Tatiana, Ting, Angela H., Natowicz, Marvin R., Landsberger, Nicoletta

Journal:

Year:

2012

Language:

english

File:

PDF, 1009 KB

english, 2012

54

W1183 Plasma Citrulline Levels in Pediatric Patients with Small Bowel Crohn's Disease-a Novel Biomarker of Inflammation

Atay, Orhan K., Radhakrishnan, Kadakkal R., Parlow, Susan, Mahajan, Lori, Natowicz, Marvin

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 93 KB

english, 2009

55

Cerebrospinal fluid lactate and pyruvate concentrations and their ratio

Zhang, Wan-Ming, Natowicz, Marvin R.

Journal:

Clinical Biochemistry

Year:

2013

Language:

english

File:

PDF, 235 KB

english, 2013

56

[Part 2: Biological Sciences] || Metabolic Labeling of Lutropin with [35S]sulfate

Glen Hortin, Marvin Natowicz, John Pierce, Jacques Baenziger, Thomas Parsons and Irving Boime

Journal:

Proceedings of the National Academy of Sciences

Year:

1981

Language:

english

File:

PDF, 1.74 MB

english, 1981

57

Mutations in HYAL1, a Member of a Tandemly Distributed Multigene Family Encoding Disparate Hyaluronidase Activities, Cause a Newly Described Lysosomal Disorder, Mucopolysaccharidosis IX

Barbara Triggs-Raine, Timothy J. Salo, Hong Zhang, Brandy A. Wicklow and Marvin R. Natowicz

Journal:

Proceedings of the National Academy of Sciences

Year:

1999

Language:

english

File:

PDF, 1.07 MB

english, 1999

58

Enzymatic Identification of Mannose 6-phosphate on the Recognition Marker for Receptor-Mediated Pinocytosis of β -glucuronidase by Human Fibroblasts

Marvin R. Natowicz, Maggie M.-Y. Chi, Oliver H. Lowry and William S. Sly

Journal:

Proceedings of the National Academy of Sciences

Year:

1979

Language:

english

File:

PDF, 1.31 MB

english, 1979

59

Recognition and Receptor-Mediated Uptake of Phosphorylated High Mannose-Type Oligosaccharides by Cultured Human Fibroblasts

Marvin Natowicz, David W. Hallett, Carole Frier, Maggie Chi, Paul H. Schlesinger and Jacques U. Baenziger

Journal:

The Journal of Cell Biology

Year:

1983

Language:

english

File:

PDF, 221 KB

english, 1983

60

Fibroblast Receptor for Lysosomal Enzymes Mediates Pinocytosis of Multivalent Phosphomannan Fragment

H. David Fischer, Marvin Natowicz, William S. Sly and Roger K. Bretthauer

Journal:

The Journal of Cell Biology

Year:

1980

Language:

english

File:

PDF, 1.52 MB

english, 1980

61

[IEEE 2011 14th International IEEE Conference on Intelligent Transportation Systems - (ITSC 2011) - Washington, DC, USA (2011.10.5-2011.10.7)] 2011 14th International IEEE Conference on Intelligent Transportation Systems (ITSC) - Real time energy management algorithm for hybrid electric vehicle

Cela, A., Hrazdira, A., Reama, A., Hamouche, R., Niculescu, S. I, Mounier, H., Natowicz, R., Kocik, R.

Year:

2011

Language:

english

File:

PDF, 949 KB

english, 2011

62

[IEEE [1992] IJCNN International Joint Conference on Neural Networks - Baltimore, MD, USA (7-11 June 1992)] [Proceedings 1992] IJCNN International Joint Conference on Neural Networks - A model of formal neural networks for unsupervised learning of binary temporal sequences

Gas, B., Natowicz, R.

Year:

1992

Language:

english

File:

PDF, 366 KB

english, 1992

63

New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

Hogarth, P., Gregory, A., Kruer, M. C., Sanford, L., Wagoner, W., Natowicz, M. R., Egel, R. T., Subramony, S. H., Goldman, J. G., Berry-Kravis, E., Foulds, N. C., Hammans, S. R., Desguerre, I., Rodrig

Journal:

Year:

2013

Language:

english

File:

PDF, 824 KB

english, 2013

64

[IEEE 1993 International Conference on Neural Networks (IJCNN-93-Nagoya, Japan) - Nagoya, Japan (25-29 Oct. 1993)] Proceedings of 1993 International Conference on Neural Networks (IJCNN-93-Nagoya, Japan) - Extending discrete Hopfield networks for unsupervised learning of temporal sequences

Gas, B., Natowicz, R.

Year:

1993

Language:

english

File:

PDF, 477 KB

english, 1993

65

[IEEE 2013 16th International IEEE Conference on Intelligent Transportation Systems - (ITSC 2013) - The Hague, Netherlands (2013.10.6-2013.10.9)] 16th International IEEE Conference on Intelligent Transportation Systems (ITSC 2013) - Energy optimal real-time navigation system: Application to a hybrid electrical vehicle

Jurik, T., Cela, A., Hamouche, R., Reama, A., Natowicz, R., Niculescu, S.I, Villedieu, Ch., Pachetau, D.

Year:

2013

Language:

english

File:

PDF, 1.35 MB

english, 2013

66

Disclosure of Personal Medical Information: Differences among Parents and Affected Adults for Genetic and Nongenetic Conditions

Johnson, Summer, Kass, Nancy E., Natowicz, Marvin

Journal:

Genetic Testing

Year:

2005

Language:

english

File:

PDF, 81 KB

english, 2005

67

Rapid Prenatal Testing for Human β-Glucuronidase Deficiency (MPS VII)

Natowicz, Marvin R., Isman, Ferruh, Prence, Elizabeth M., Cedrone, Patricia, Allen, Jean J.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

68

Addressing Consumer Grievances in Medicine: Policies and Practices of Newborn Screening Programs in the United States

Natowicz, Marvin R., Hiller, Elaine H.

Journal:

Genetic Testing

Year:

2002

Language:

english

File:

PDF, 119 KB

english, 2002

69

[IEEE 2010 32nd Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC 2010) - Buenos Aires (2010.08.31-2010.09.4)] 2010 Annual International Conference of the IEEE Engineering in Medicine and Biology - Non-parametric kernel density estimation for the prediction of neoadjuvant chemotherapy outcomes

Wanderley, M F B, Braga, Antônio P, Mendes, E M A M, Natowicz, René, Rouzier, R

Year:

2010

Language:

english

File:

PDF, 643 KB

english, 2010

70

Heterozygosity for Tay-Sachs and Sandhoff Diseases in Non-Jewish Americans with Ancestry from Ireland, Great Britain, or Italy

Branda, Kelly Johnston, Tomczak, Jerzy, Natowicz, Marvin R.

Journal:

Genetic Testing

Year:

2004

Language:

english

File:

PDF, 66 KB

english, 2004

71

Clinical and Biochemical Manifestations of Hyaluronidase Deficiency

Natowicz, Marvin R., Short, M. Priscilla, Wang, Yu, Dickersin, G. Richard, Gebhardt, Mark C., Rosenthal, Daniel I., Sims, Katherine B., Rosenberg, Andrew E.

Journal:

Boston Medical and Surgical Journal

Year:

1996

Language:

english

File:

PDF, 257 KB

english, 1996

72

Evaluation of the Risk for Tay-Sachs Disease in Individuals of French Canadian Ancestry Living in New England

Martin, D. C., Mark, B. L., Triggs-Raine, B. L., Natowicz, M. R.

Journal:

Clinical Chemistry

Year:

2007

Language:

english

File:

PDF, 287 KB

english, 2007

73

Statistical measures of transcriptional diversity capture genomic heterogeneity of cancer

Jiang, Tingting, Shi, Weiwei, Natowicz, René, Ononye, Sophia N, Wali, Vikram B, Kluger, Yuval, Pusztai, Lajos, Hatzis, Christos

Journal:

Year:

2014

Language:

english

File:

PDF, 1.39 MB

english, 2014

74

Energy Optimal Real-Time Navigation System

Jurik, Tomas, Cela, Arben, Hamouche, Redha, Natowicz, Rene, Reama, Abdellatif, Niculescu, Silviu-Iulian, Julien, Jerome

Journal:

IEEE Intelligent Transportation Systems Magazine

Year:

2014

Language:

english

File:

PDF, 3.62 MB

english, 2014

75

Double outlet right ventricle: aetiologies and associations

Obler, D, Juraszek, A L, Smoot, L B, Natowicz, M R

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 283 KB

english, 2008

76

Recognition and receptor-mediated uptake of phosphorylated high mannose- type oligosaccharides by cultured human fibroblasts

Journal:

The Journal of Cell Biology

Year:

1983

Language:

english

File:

PDF, 481 KB

english, 1983

77

Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX

Triggs-Raine, B., Salo, T. J., Zhang, H., Wicklow, B. A., Natowicz, M. R.

Journal:

Proceedings of the National Academy of Sciences

Year:

1999

Language:

english

File:

PDF, 213 KB

english, 1999

78

[IEEE Comput. Soc. Press Proceedings., 11th IAPR International Conference on Pattern Recognition. Vol.II. Conference B: Pattern Recognition Methodology and Systems - The Hague, Netherlands (30 Aug.-3 Sept. 1992)] Proceedings., 11th IAPR International Conference on Pattern Recognition. Vol.II. Conference B: Pattern Recognition Methodology and Systems - A model of formal neural networks for unsupervised learning of binary temporal sequences

Gas, B., Natowicz, R.

Year:

1992

Language:

english

File:

PDF, 316 KB

english, 1992

79

V490M, a Common Mutation in 3-Phosphoglycerate Dehydrogenase Deficiency, Causes Enzyme Deficiency by Decreasing the Yield of Mature Enzyme

Pind, S., Slominski, E., Mauthe, J., Pearlman, K., Swoboda, K. J., Wilkins, J. A., Sauder, P., Natowicz, M. R.

Journal:

Journal of Biological Chemistry

Year:

2002

Language:

english

File:

PDF, 641 KB

english, 2002

80

Late-onset Tay-Sachs disease presenting as a childhood stutter

Shapiro, B E, Natowicz, M R

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2009

Language:

english

File:

PDF, 137 KB

english, 2009

81

A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease?

Simon, D. K, Rodriguez, M. L, Frosch, M. P, Quackenbush, E. J, Feske, S. K, Natowicz, M. R

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1998

Language:

english

File:

PDF, 158 KB

english, 1998

82

Association of Turner Syndrome With Hypoplastic Left-Heart Syndrome

Natowicz, Marvin

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1987

Language:

english

File:

PDF, 447 KB

english, 1987

83

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

van Bael, M, Natowicz, M R, Tomczak, J, Grebner, E E, Prence, E M

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 857 KB

english, 1996

84

Delayed Myelination in Infants and Young Children: Radiographic and Clinical Correlates

Squires, L. A., Krishnamoorthy, K. S., Natowicz, M. R.

Journal:

Journal of Child Neurology

Year:

1995

Language:

english

File:

PDF, 568 KB

english, 1995

85

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation

Fernandes, M., Kaplan, F., Natowicz, M., Prence, E., Kolodny, E., Kaback, M., Hachtman, P.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 444 KB

english, 1992

86

Marked Heterogeneity in Niemann-Pick Disease, Type C: Clinical and Ultrastructural Findings

Natowicz, M. R., Stoler, J. M., Prence, E. M., Liscum, L.

Journal:

Clinical Pediatrics

Year:

1995

Language:

english

File:

PDF, 704 KB

english, 1995

87

Adult-onset MLD: A gene mutation with isolated polyneuropathy

Felice, K. J., Lira, M. G., Natowicz, M., Grunnet, M. L., Tsongalis, G. J., Sima, A. A. F., Kaplan, R. F.

Journal:

Year:

2000

Language:

english

File:

PDF, 958 KB

english, 2000

88

Newborn Screening — Setting Evidence-Based Policy for Protection

Natowicz, Marvin

Journal:

Boston Medical and Surgical Journal

Year:

2005

Language:

english

File:

PDF, 86 KB

english, 2005

89

Late-onset Tay-Sachs disease: Adverse effects of medications and implications for treatment

Shapiro, B. E., Hatters-Friedman, S., Fernandes-Filho, J. A., Anthony, K., Natowicz, M. R.

Journal:

Year:

2006

Language:

english

File:

PDF, 155 KB

english, 2006

90

Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews

Triggs-Raine, Barbara L., Feigenbaum, Annette S.J., Natowicz, Marvin, Skomorowski, Marie-Anne, Schuster, Sheldon M., Clarke, Joe T.R., Mahuran, Don J., Kolodny, Edwin H., Gravel, Roy A.

Journal:

Boston Medical and Surgical Journal

Year:

1990

Language:

english

File:

PDF, 1.17 MB

english, 1990

91

Sequential selection of variables using short permutation procedures and multiple adjustments: An application to genomic data

Azevedo Costa, M., de Souza Rodrigues, T., da Costa, A. G. F., Natowicz, R., Padua Braga, A.

Journal:

Statistical Methods in Medical Research

Year:

2015

Language:

english

File:

PDF, 422 KB

english, 2015

92

Genetic Screening: Triumphs, Problems, and Controversies

Marvin R. Natowicz and Joseph S. Alper

Journal:

Journal of Public Health Policy

Year:

1991

Language:

english

File:

PDF, 1.88 MB

english, 1991

93

Genetic Discrimination and Screening for Hemochromatosis

Joseph S. Alper, Lisa N. Geller, Carol I. Barash, Paul R. Billings, Vicki Laden and Marvin R. Natowicz

Journal:

Journal of Public Health Policy

Year:

1994

Language:

english

File:

PDF, 1.46 MB

english, 1994

94

Heterozygote screening for Tay-Sachs disease

Natowicz, Marvin R., Prence, Elizabeth M.

Journal:

Current Opinion in Pediatrics

Year:

1996

File:

PDF, 476 KB

1996

95

Metabolic labeling of lutropin with [35S]sulfate.

Hortin, G., Natowicz, M., Pierce, J., Baenziger, J., Parsons, T., Boime, I.

Journal:

Proceedings of the National Academy of Sciences

Year:

1981

Language:

english

File:

PDF, 1.44 MB

english, 1981

96

Ethical issues in clinical genetics

Natowicz, Marvin R., Broder, Sherri M.

Journal:

Current Opinion in Pediatrics

Year:

1992

File:

PDF, 531 KB

1992

97

Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States.

Hiller, E H, Landenburger, G, Natowicz, M R

Journal:

American Journal of Public Health

Year:

1997

Language:

english

File:

PDF, 3.09 MB

english, 1997

98

Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblasts.

Natowicz, M. R., Chi, M. M., Lowry, O. H., Sly, W. S.

Journal:

Proceedings of the National Academy of Sciences

Year:

1979

Language:

english

File:

PDF, 1.09 MB

english, 1979

99

Investigations of blood ammonia analysis: Test matrices, storage, and stability

Goldstein, Brittany N., Wesler, Jordan, Nowacki, Amy S., Reineks, Edmunds, Natowicz, Marvin R.

Journal:

Clinical Biochemistry

Year:

2017

Language:

english

File:

PDF, 826 KB

english, 2017

100

Proteomic explorations of autism spectrum disorder

Szoko, Nicholas, McShane, Adam J., Natowicz, Marvin R.

Journal:

Autism Research

Year:

2017

Language:

english

File:

PDF, 196 KB

english, 2017

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