Suchergebnisse - Brian P. Brooks

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  1. 1
    Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease

    Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease von Brian P. Brooks, Kenneth H. Fischbeck

    Veröffentlicht 1995
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  2. 2
    Pharmacologic profile of MDMA (3,4-methylenedioxymethamphetamine) at various brain recognition sites

    Pharmacologic profile of MDMA (3,4-methylenedioxymethamphetamine) at various brain recognition sites von George Battaglia, Brian P. Brooks, Chaiyaporn Kulsakdinun, Errol B. De Souza

    Veröffentlicht 1988
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  3. 3
    Cone Rod Homeobox ( <i>CRX</i> ): literature review and new insights

    Cone Rod Homeobox ( <i>CRX</i> ): literature review and new insights von Arnold Leigh, Anand Swaroop, Kamil Kruczek, Ehsan Ullah, Brian P. Brooks

    Veröffentlicht 2025
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  4. 4
    Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity

    Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity von Monika B. Dolinska, Elena G. Kovaleva, Peter S. Backlund, Paul T. Wingfield, Brian P. Brooks, Yuri V. Sergeev

    Veröffentlicht 2014
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  5. 5
    Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity

    Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity von Monika B. Dolinska, Nicole J. Kus, S. Katie Farney, Paul T. Wingfield, Brian P. Brooks, Yuri V. Sergeev

    Veröffentlicht 2016
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  6. 6
    Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks

    Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks von John M. Bryan, Temesgen Fufa, Kapil Bharti, Brian P. Brooks, Robert B. Hufnagel, David McGaughey

    Veröffentlicht 2018
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  7. 7
    Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship

    Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship von Kenneth H. Kraemer, N J Patronas, Raphael Schiffmann, Brian P. Brooks, Deborah Tamura, John J. DiGiovanna

    Veröffentlicht 2007
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  8. 8
    A Cell Culture Model for Androgen Effects in Motor Neurons

    A Cell Culture Model for Androgen Effects in Motor Neurons von Brian P. Brooks, Diane E. Merry, Henry L. Paulson, Andrew P. Lieberman, Dennis L. Kolson, Kenneth H. Fischbeck

    Veröffentlicht 1998
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  9. 9
    Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

    Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency von Brian P. Brooks, A. Thompson, Jennifer L. Sloan, Irini Manoli, Nuria Carrillo, Wadih M. Zein, Charles P. Venditti

    Veröffentlicht 2016
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  10. 10
    Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature

    Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature von Hema L. Ramkumar, Brian P. Brooks, Xiaoguang Cao, Deborah Tamura, John J. DiGiovanna, Kenneth H. Kraemer, Chi‐Chao Chan

    Veröffentlicht 2011
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  11. 11
    Characterization of an Expanded Glutamine Repeat Androgen Receptor in a Neuronal Cell Culture System

    Characterization of an Expanded Glutamine Repeat Androgen Receptor in a Neuronal Cell Culture System von Brian P. Brooks, Henry L. Paulson, Diane E. Merry, Edgar F. Salazar‐Grueso, Albert O. Brinkmann, Elizabeth M. Wilson, Kenneth H. Fischbeck

    Veröffentlicht 1997
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  12. 12
    Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL

    Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL von Lorenzo Nichols, Ramakrishna P. Alur, Elangovan Boobalan, Yuri V. Sergeev, Rafael C. Caruso, Edwin M. Stone, Anand Swaroop, Mary A. Johnson, Brian P. Brooks

    Veröffentlicht 2010
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  13. 13
    Developing Cellular Therapies for Retinal Degenerative Diseases

    Developing Cellular Therapies for Retinal Degenerative Diseases von Kapil Bharti, Mahendra S. Rao, Sara Chandros Hull, David Stroncek, Brian P. Brooks, Ellen G. Feigal, Jan C. van Meurs, Christene A. Huang, Sheldon S. Miller

    Veröffentlicht 2014
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  14. 14
    Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion

    Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion von Holly Hardy, James Prendergast, Aara Patel, Sunit Dutta, Violeta Trejo-Reveles, Hannah Kroeger, Andrea R. Yung, Lisa V. Goodrich, Brian P. Brooks, Jane C. Sowden, Joe Rainger

    Veröffentlicht 2019
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  15. 15
    Compound heterozygosity for mutations in <i>PAX6</i> in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

    Compound heterozygosity for mutations in <i>PAX6</i> in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia von Benjamin D. Solomon, Daniel Pineda‐Alvarez, Joan Z. Balog, Donald W. Hadley, Andrea Gropman, R. Nandagopal, Joan C. Han, Jin S. Hahn, Delphine Blain, Brian P. Brooks, Maximilian Muenke

    Veröffentlicht 2009
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  16. 16
    Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance

    Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance von Penelope Feuillan, David Ng, Joan C. Han, Julie C. Sapp, Katie Wetsch, Emma Spaulding, Yuqian C. Zheng, Rafael C. Caruso, Brian P. Brooks, Jennifer J. Johnston, Jack A. Yanovski, Leslie G. Biesecker

    Veröffentlicht 2011
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  17. 17
    Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids

    Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids von Kamil Kruczek, Zepeng Qu, James L. Gentry, Benjamin R. Fadl, Linn Gieser, Suja Hiriyanna, Zachary Batz, Mugdha D. Samant, A. Samanta, Colin J. Chu, Laura Campello, Brian P. Brooks, Zhijian Wu, Anand Swaroop

    Veröffentlicht 2021
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  18. 18
    Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

    Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism von Ighovie F. Onojafe, David R. Adams, Dimitre R. Simeonov, Jun Zhang, Chi‐Chao Chan, Isa Bernardini, Yuri V. Sergeev, Monika B. Dolinska, Ramakrishna P. Alur, Murray H. Brilliant, William A. Gahl, Brian P. Brooks

    Veröffentlicht 2011
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  19. 19
    Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

    Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center von Brian P. Brooks, Wadih M. Zein, A. Thompson, Maryam Mokhtarzadeh, Dan Doherty, Melissa A. Parisi, Ian Glass, May Christine V. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay‐Aygun

    Veröffentlicht 2018
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  20. 20
    The retinal pigmentation pathway in human albinism: Not so black and white

    The retinal pigmentation pathway in human albinism: Not so black and white von Reinier Bakker, Ellie L. Wagstaff, Charlotte C. Kruijt, Eszter Emri, Clara D.M. van Karnebeek, Michael B. Hoffmann, Brian P. Brooks, Camiel J.F. Boon, Lluı́s Montoliu, Maria M. van Genderen, Arthur A. Bergen

    Veröffentlicht 2022
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