检索结果 - 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 由 Brian P. Brooks, Kenneth H. Fischbeck

    出版 1995
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  2. 2
    Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes

    Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes 由 Aman George, Tiziana Cogliati, Brian P. Brooks

    出版 2020
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  3. 3
    Pharmacologic profile of MDMA (3,4-methylenedioxymethamphetamine) at various brain recognition sites

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

    出版 1988
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  4. 4
    Cone Rod Homeobox ( <i>CRX</i> ): literature review and new insights

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

    出版 2025
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  5. 5
    Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity

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

    出版 2014
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  6. 6
    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 由 Monika B. Dolinska, Nicole J. Kus, S. Katie Farney, Paul T. Wingfield, Brian P. Brooks, Yuri V. Sergeev

    出版 2016
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  7. 7
    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 由 John M. Bryan, Temesgen Fufa, Kapil Bharti, Brian P. Brooks, Robert B. Hufnagel, David McGaughey

    出版 2018
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  8. 8
    Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship

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

    出版 2007
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  9. 9
    A Cell Culture Model for Androgen Effects in Motor Neurons

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

    出版 1998
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  10. 10
    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 由 Brian P. Brooks, A. Thompson, Jennifer L. Sloan, Irini Manoli, Nuria Carrillo, Wadih M. Zein, Charles P. Venditti

    出版 2016
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  11. 11
    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 由 Hema L. Ramkumar, Brian P. Brooks, Xiaoguang Cao, Deborah Tamura, John J. DiGiovanna, Kenneth H. Kraemer, Chi‐Chao Chan

    出版 2011
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  12. 12
    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 由 Brian P. Brooks, Henry L. Paulson, Diane E. Merry, Edgar F. Salazar‐Grueso, Albert O. Brinkmann, Elizabeth M. Wilson, Kenneth H. Fischbeck

    出版 1997
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  13. 13
    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 由 Lorenzo Nichols, Ramakrishna P. Alur, Elangovan Boobalan, Yuri V. Sergeev, Rafael C. Caruso, Edwin M. Stone, Anand Swaroop, Mary A. Johnson, Brian P. Brooks

    出版 2010
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  14. 14
    Developing Cellular Therapies for Retinal Degenerative Diseases

    Developing Cellular Therapies for Retinal Degenerative Diseases 由 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

    出版 2014
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  15. 15
    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 由 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

    出版 2019
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  16. 16
    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 由 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

    出版 2009
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  17. 17
    Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance

    Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance 由 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

    出版 2011
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  18. 18
    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 由 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

    出版 2021
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  19. 19
    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 由 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

    出版 2011
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  20. 20
    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 由 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

    出版 2018
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