Charnas, Lawrence R.: search on Z-Library

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1

Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities

Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy Hirsch, Lawrence Charnas, Brent R. Bill, Mathew C. Easterday, Johan Staaf, LeAnn Oseth, Desiree Czapansky-Beilman, Dimitri Avramopoulos, George

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 650 KB

english, 2007

2

How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration

Furlong, Pat, Bridges, John F. P., Charnas, Lawrence, Fallon, Justin R., Fischer, Ryan, Flanigan, Kevin M., Franson, Timothy R., Gulati, Neera, McDonald, Craig, Peay, Holly, Sweeney, H. Lee

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 553 KB

english, 2015

3

130. Neuropsychological outcomes in Hurler syndrome: 7–20 years post-hematopoietic stem cell transplantion

Elsa Shapiro, Kendra Bjoraker, Evren Guler, Kathleen Delaney, Lawrence Charnas, Jakub Tolar, Chester Whitley, Kathleen Thomas

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

4

Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of lowe

Lauren Kenworthy, Lawrence Charnas

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 884 KB

english, 1995

5

107. Longitudinal study of bone disease and the impact of growth hormone treatment in MPS I, II, and VI

Lynda Polgreen, David Stevenson, Kendra Bjoraker, Bradley Miller, Matthew Deyo, Heather Hanson, Lawrence Charnas, Moira Petit, David Viskochil, Anna Petryk

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

6

Parenchymal organ cystine depletion with long-term cysteamine therapy

William A. Gahl, Lawrence Charnas, Thomas C. Markello, Isa Bernardini, Kamal G. Ishak, Marinos C. Dalakas

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1992

Language:

english

File:

PDF, 1.84 MB

english, 1992

7

Neurological Injuries in Boxers: The Use of Tests

Charnas, Lawrence

Journal:

JAMA The Journal of the American Medical Association

Year:

1990

Language:

english

File:

PDF, 196 KB

english, 1990

8

76 Quality-of-life and psychosocial outcomes in patients with MPS disorders who have undergone hematopoietic stem cell transplant

Kendra Bjoraker, Elsa G. Shapiro, Lawrence Charnas, Paul Orchard, Kathleen Delaney, Cheryl K. Johnson

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 42 KB

english, 2007

9

Muscle Carnitine Repletion by Long-Term Carnitine Supplementation in Nephropathic Cystinosis

Gahl, William A, Bernardini, Isa M, Dalakas, Marinos C, Markello, Thomas C, Krasnewich, Donna M, Charnas, Lawrence R

Journal:

Pediatric Research

Year:

1993

Language:

english

File:

PDF, 505 KB

english, 1993

10

Reply to: Myositis associated with growth hormone therapy

Lawrence Charnas

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 93 KB

english, 1994

11

An In Vitro Study on the Combination Effect of Metformin and N-Acetyl Cysteine against Hyperglycaemia-Induced Cardiac Damage

Johnson, Rabia, Sangweni, Nonhlakanipho F., Mabhida, Sihle E., Dludla, Phiwayinkosi V., Mabasa, Lawrence, Riedel, Sylvia, Chapman, Charna, Mosa, Rebamang A., Kappo, Abidemi P., Louw, Johan, Muller, Ch

Journal:

Year:

2019

File:

PDF, 3.55 MB

2019

12

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

Jabs, Ethylin Wang, Li, Xiang, Scott, Alan F., Meyers, Gregory, Chen, Wendy, Eccles, Michael, Mao, Jen-i, Charnas, Lawrence R., Jackson, Charles E., Jaye, Michael

Journal:

Nature Genetics

Year:

1994

File:

PDF, 566 KB

1994

13

Hematopoietic Cell Therapy for Metabolic Disease

Paul J. Orchard, Bruce R. Blazar, John Wagner, Lawrence Charnas, William Krivit, Jakub Tolar

Journal:

The Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 221 KB

english, 2007

14

89. Neuropsychological function and neuroimaging in severe and attenuated mucopolysaccharidosis

Elsa Shapiro, Kathleen Thomas, Kathleen Delaney, Kendra Bjoraker, Whitley Chester, Charnas Lawrence

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 42 KB

english, 2008

15

Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis

Gahl, William A., Dalakas, Marinos C., Charnas, Lawrence, Chen, Karl T.K., Pezeshkpour, Gholam H., Kuwabara, Toichiro, Davis, Suzanne L., Chesney, Russell W., Fink, John, Hutchison, H. Terry

Journal:

Boston Medical and Surgical Journal

Year:

1988

Language:

english

File:

PDF, 5.15 MB

english, 1988

16

Distal vacuolar myopathy in nephropathic cystinosis

Dr. Lawrence R. Charnas, Carlos A. Luciano, Marinos Dalakas, Roger W. Gilliatt, Isa Bernardini, Kamal Ishak, Valerie A. Cwik, Douglas Fraker, Thomas A. Brushart, William A. Gahl

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 1012 KB

english, 1994

17

14. A natural history study of hexosaminidase deficiency

Kendra J. Bjoraker, Chester B. Whitley, Charnas Lawrence

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

18

16. Serum biomarkers and clinical effect of off-label use of miglustat in GM1 gangliosidosis

Lawrence Charnas

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 44 KB

english, 2008

19

53 Bone marrow transplant in metachromatic leukodystrophy: Neuropsychological outcomes in early and late disease onset

Kendra Bjoraker, Elsa G. Shapiro, Lawrence Charnas, Paul Orchard, Kathleen Delaney

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 42 KB

english, 2007

20

54 N-Acetyl-l-cysteine improves outcome of advanced cerebral adrenoleukodystrophy

Lawrence Charnas, Jakub Tolar, Paul J. Orchard

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 55 KB

english, 2007

21

44. Outcomes of children transplanted for Krabbe disease

Patricia Duffner, Rajinder Bawa, Martin Champagne, Lawrence Charnas, Morris Kletzl, Daniel Pietryga, Kirk Schultz, Brandon Triplett

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 56 KB

english, 2009

22

Linkage Studies in Erythrokeratodermias: Fine Mapping, Genetic Heterogeneity, and Analysis of Candidate Genes.

Richard, Gabriela, Lin, Jing-Ping, Smith, Lisa, Whyte, Yolanda M., Itin, Peter, Wollina, Uwe, Epstein Jr, Ervin, Hohl, Daniel, Giroux, Jean-Mario, Charnas, Lawrence, Bale, Sherri J., DiGiovanna, John

Journal:

The Journal of Investigative Dermatology

Year:

1997

File:

PDF, 2.20 MB

1997

23

Effective treatment of α-mannosidosis by allogeneic hematopoietic stem cell transplantation

Satkiran S. Grewal, Elsa G. Shapiro, William Krivit, Lawrence Charnas, Lawrence A. Lockman, Kathleen A. Delaney, Stella M. Davies, David A. Wenger, Frank L. Rimell, Susan Abel, Alfred C. Grovas, Paul

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 216 KB

english, 2004

24

71. Case report of chaperone therapy for Adult Tay-Sachs disease and comparison to an in-silico pharmacokinetic and cellular simulation

John (Jack) Keimel, Lawrence Charnas

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

25

Clinical and Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Reference to Growth and Renal Function

Charnas, Lawrence R., Bernardini, Isa, Rader, Daniel, Hoeg, Jeffrey M., Gahl, William A.

Journal:

Boston Medical and Surgical Journal

Year:

1991

Language:

english

File:

PDF, 1.27 MB

english, 1991

26

Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe

Lauren Kenworthy, Taesung Park, Lawrence R. Charnas

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 810 KB

english, 1993

27

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1

R. L. Nussbaum, Bonnie M. Orrison, Pasi A. Jänne, Lawrence Charnas, A. Craig Chinault

Journal:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

28

97. Long-term outcome of hematopoietic cell transplantation for Wolman disease

Jakub Tolar, Anna Petryk, Khalid Khan, Kendra Bjoraker, Jose Jessurun, Lawrence Charnas, Gregory Grabowski, Elsa Shapiro, Paul Orchard

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

29

98. Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy

Paul J. Orchard, Lisa Basso, Teresa Kivisto, Gerald Raymond, Lawrence Charnas, Troy C. Lund, Jakub Tolar

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

30

Neurologic Profile in Osteogenesis lmperfecta

Charnas, Lawrence R., Marini, Joan C.

Journal:

Connective Tissue Research

Year:

1995

Language:

english

File:

PDF, 406 KB

english, 1995

31

98. Niemann-Pick disease: Survival after umbilical cord blood transplantation

Jakub Tolar, Lawrence Charnas, Kendra Bjoraker, Elsa Shapiro, Paul Orchard

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

32

99. Antioxidant neuroprotection with hematopoietic cell transplantation in cerebral adrenoleukodystrophy

Jakub Tolar, Lawrence Charnas, Paul Orchard

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 44 KB

english, 2008

33

23. Comparison of concordance ratios of symptom onset in metachromatic leukodystrophy (MLD): Sib pairs suggests clinical benefit of preymptomatic hematopoietic cell transplant (HCT)

Lawrence Charnas, Elsa Shapiro

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

34

26. A re-analysis of disease stage progression in Krabbe disease (infantile globoid cell leukodystrophy, iGLD)

Lawrence Charnas, Nitin Nair, Robert Mensah

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

35

24. A study of intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I

Agnes Chen, Patricia Dickson, Elsa Shapiro, Lawrence Charnas, Daniel Guillaume, Merry Passage, Barbara Lyons

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

36

Enzyme replacement therapy corrects Lysosomal Acid Lipase Deficiency (LALD) in a mouse model of Wolman disease/cholesteryl ester storage disease

Gregory Grabowski, Hong Du, Brian Pescatore, Alla Romashko, Muthu Meiyappan, Paolo Martini, Lawrence Charnas, Alicia Gomez-Yafal, You-Hai Xu, Oluwaseyi Westmoreland, Lori Stanton, Gregory Grabowski

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

37

38 A proposed multicenter study of CNS structure and function in MPS I

Elsa Shapiro, Lawrence Charnas

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 44 KB

english, 2007

38

Myalgia and elevated creatine kinase activity associated with subcutaneous injections of diluent

Mark A. Bach, Donna M. Blum, Susan R. Rose, Lawrence R. Charnas

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 187 KB

english, 1992

39

Outcome of CNS and pulmonary enteroviral infections after hematopoietic cell transplantation

Poh-Lin Tan, Michael R. Verneris, Lawrence R. Charnas, Samuel J. Reck, Jo-Anne H. van Burik, Bruce R. Blazar

Journal:

Pediatric Blood & Cancer

Year:

2005

Language:

english

File:

PDF, 33 KB

english, 2005

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