Huda Y. Zoghbi: search on Z-Library

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1

Rett Syndrome: A Prototypical Neurodevelopmental Disorder

Neul, Jeffrey L., Zoghbi, Huda Y.

Journal:

Neuroscientist The

Year:

2004

Language:

english

File:

PDF, 130 KB

english, 2004

2

Introduction: Rett syndrome

Journal:

Development Diabilities Research Reviews

Year:

2002

Language:

english

File:

PDF, 47 KB

english, 2002

3

Lessons learned from studying syndromic autism spectrum disorders

Sztainberg, Yehezkel, Zoghbi, Huda Y

Journal:

Nature Neuroscience

Year:

2016

Language:

english

File:

PDF, 2.46 MB

english, 2016

4

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

Melissa B. Ramocki, Sarika U. Peters, Y. Jane Tavyev, Feng Zhang, Claudia M. B. Carvalho, Christian P. Schaaf, Ronald Richman, Ping Fang, Daniel G. Glaze, James R. Lupski, Huda Y. Zoghbi

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 346 KB

english, 2009

5

An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders

Baker, Steven Andrew, Chen, Lin, Wilkins, Angela Dawn, Yu, Peng, Lichtarge, Olivier, Zoghbi, Huda Yahya

Journal:

Year:

2013

Language:

english

File:

PDF, 1.77 MB

english, 2013

6

Trinucleotide Repeat Disorders

Orr, Harry T., Zoghbi, Huda Y.

Journal:

Annual Review of Neuroscience

Year:

2007

Language:

english

File:

PDF, 570 KB

english, 2007

7

Glutamine Repeats and Neurodegeneration

Zoghbi, Huda Y., Orr, Harry T.

Journal:

Annual Review of Neuroscience

Year:

2000

Language:

english

File:

PDF, 239 KB

english, 2000

8

From Anatomy to Electrophysiology: Clinical Lasker Goes Deep

Zoghbi, Huda Y.

Journal:

Year:

2014

Language:

english

File:

PDF, 347 KB

english, 2014

9

Characterization of the Zebrafish atxn1/axh Gene Family

Carlson, Kerri M., Melcher, Laura, Lai, Shaojuan, Zoghbi, Huda Y., Clark, H. Brent, Orr, Harry T.

Journal:

Journal of Neurogenetics

Year:

2009

Language:

english

File:

PDF, 5.50 MB

english, 2009

10

Rett Syndrome and the Ongoing Legacy of Close Clinical Observation

Zoghbi, Huda Y.

Journal:

Year:

2016

Language:

english

File:

PDF, 541 KB

english, 2016

11

Rett Syndrome: Qualitative and Quantitative Differentiation from Autism

Percy, Alan K., Zoghbi, Huda Y., Lewis, Kay R., Jankovic, Joseph

Journal:

Journal of Child Neurology

Year:

1988

Language:

english

File:

PDF, 196 KB

english, 1988

12

Loss of Atoh1 from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice

van der Heijden, Meike E, Zoghbi, Huda Y

Journal:

Year:

2018

Language:

english

File:

PDF, 38.21 MB

english, 2018

13

Mutation analysis of the M6b gene in patients with Rett syndrome

Narayanan, Vinodh, Olinsky, Shari, Dahle, Elizabeth, Naidu, Sakkubai, Zoghbi, Huda Y.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 72 KB

english, 1998

14

Analysis of the genomic structure of the human glycine receptor ?2 subunit gene and exclusion of this gene as a candidate for Rett syndrome

Cummings, Chris J., Dahle, E. Jill Roth, Zoghbi, Huda Y.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 58 KB

english, 1998

15

Genomic structure of a human holocytochromec-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome

Van den Veyver, Ignatia B., Subramanian, Stephanie, Zoghbi, Huda Y.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 52 KB

english, 1998

16

Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq

Amir, Ruthie, Dahle, E. Jill Roth, Toriolo, Daniela, Zoghbi, Huda Y.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 47 KB

english, 2000

17

Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype–genotype correlations

Ruthie E. Amir, Huda Y. Zoghbi

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 146 KB

english, 2000

18

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

Tohru Matsuura, Madhureeta Achari, Mehrdad Khajavi, Linda L. Bachinski, Huda Y. Zoghbi, Tetsuo Ashizawa

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 125 KB

english, 1999

19

Balanced X chromosome inactivation patterns in the Rett syndrome brain

Mona D. Shahbazian, Yaling Sun, Huda Y. Zoghbi

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 91 KB

english, 2002

20

Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

James R. Lupski, Carlos A. Garcia, Huda Y. Zoghbi, Eric P. Hoffman, Raymond G. Fenwick

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 1.30 MB

english, 1991

21

Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome

Kimberly A. Ellison, E. Jill Roth, Edward R. B. McCabe, A. Craig Chinault, Huda Y. Zoghbi

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 1.07 MB

english, 1993

22

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization

Elizabeth A. Lindsay, Alessandra Grillo, Giovanni B. Ferrero, Elizabeth J. Roth, Ellen Magenis, Markus Grompe, Maj Hultén, Clive Gould, Antonio Baldini, Huda Y. Zoghbi, Andrea Ballabio

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 701 KB

english, 1994

23

Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl–CoA lyase deficiency

Dr Huda Y. Zoghbi, J. Edward Spence, Arthur L. Beaudet, William E. O'Brien, Clay J. Goodman, Kenneth M. Gibson

Journal:

Annals of Neurology

Year:

1986

Language:

english

File:

PDF, 549 KB

english, 1986

24

Rett's syndrome: Characterization of respiratory patterns and sleep

Dr. Daniel G. Glaze, James D. Frost Jr., Huda Y. Zoghbi, Alan K. Percy

Journal:

Annals of Neurology

Year:

1987

Language:

english

File:

PDF, 877 KB

english, 1987

25

Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred

Dr. Huda Y. Zoghbi, Marilyn S. Pollack, Leslie A. Lyons, Robert E. Ferrell, Stephen P. Daiger, Arthur L. Beaudet

Journal:

Annals of Neurology

Year:

1988

Language:

english

File:

PDF, 517 KB

english, 1988

26

Cerebrospinal fluid biogenic amines and biopterin in rett syndrome

Huda Y. Zoghbi, Sheldon Milstien, Ian J. Butler, E. O'Brian Smith, Seymour Kaufman, Daniel G. Glaze, Alan K. Percy

Journal:

Annals of Neurology

Year:

1989

Language:

english

File:

PDF, 445 KB

english, 1989

27

Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone

Alan K. Percy, Dr. Daniel G. Glaze, Rebecca J. Schultz, Huda Y. Zoghbi, Daniel Williamson, James D. Frost Jr, Joseph J. Jankovic, Deborah del Junco, Martha Skender, Steve Waring, Edwin C. Myer

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 611 KB

english, 1994

28

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease

Toni Matilla, Alanna McCall, S. H. Subramony, Dr Huda Y. Zoghbi

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 443 KB

english, 1995

29

Genetic basis of rett syndrome

Ignatia B. Van den Veyver, Huda Y. Zoghbi

Journal:

Development Diabilities Research Reviews

Year:

2002

Language:

english

File:

PDF, 88 KB

english, 2002

30

Analysis ofMid1, Hccs, Arhgap6,andMsl3l1in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice

Trena A. Cormier, Siddharth K. Prakash, Daniel B. Magner, Huda Y. Zoghbi, Ignatia B. Van den Veyver

Journal:

Mammalian Genome

Year:

2001

Language:

english

File:

PDF, 124 KB

english, 2001

31

Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1

Nathan D. Jorgensen, J. Michael Andresen, Jason E. Pitt, Melissa A. Swenson, Huda Y. Zoghbi, Harry T. Orr

Journal:

Journal of Neurochemistry

Year:

2007

Language:

english

File:

PDF, 1.31 MB

english, 2007

32

Phosphorylation of ATXN1 at Ser776 in the cerebellum

Nathan D. Jorgensen, J. Michael Andresen, Sara Lagalwar, Ben Armstrong, Sam Stevens, Courtney E. Byam, Lisa A. Duvick, Shaojuan Lai, Paymaan Jafar-Nejad, Huda Y. Zoghbi, H. Brent Clark, Harry T. Orr

Journal:

Journal of Neurochemistry

Year:

2009

Language:

english

File:

PDF, 1011 KB

english, 2009

33

The CAG/Polyglutamine Tract Diseases: Gene Products and Molecular Pathogenesis

Beena T. Koshy, Huda Y. Zoghbi

Journal:

Brain Pathology

Year:

1997

Language:

english

File:

PDF, 1.42 MB

english, 1997

34

10.1038/13810

Zoghbi, Huda Y., Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 1.15 MB

english, 1999

35

10.1038/34701

Skinner, Pamela J., Koshy, Beena T., Cummings, Christopher J., Klement, Ivan A., Helin, Kara, Servadio, Antonio, Zoghbi, Huda Y., Orr, Harry T.

Journal:

Year:

1998

Language:

english

File:

PDF, 1.21 MB

english, 1998

36

10.1038/34708

Skinner, Pamela J., Koshy, Beena T., Cummings, Christopher J., Klement, Ivan A., Helin, Kara, Servadio, Antonio, Zoghbi, Huda Y., Orr, Harry T.

Journal:

Year:

1998

Language:

english

File:

PDF, 93 KB

english, 1998

37

GENETIC REGULATION OF CEREBELLAR DEVELOPMENT

Wang, Vincent Y., Zoghbi, Huda Y.

Journal:

Nature Reviews Neuroscience

Year:

2001

Language:

english

File:

PDF, 811 KB

english, 2001

38

10.1038/35908

Matilla, Antoni, Koshy, Beena T., Cummings, Christopher J., Isobe, Toshiaki, Orr, Harry T., Zoghbi, Huda Y.

Journal:

Year:

1998

Language:

english

File:

PDF, 699 KB

english, 1998

39

10.1038/36579

Zoghbi, Huda Y., Ben-Arie, Nissim, Bellen, Hugo J., Armstrong, Dawna L., McCall, Alanna E., Gordadze, Polina R., Guo, Qiuxia, Matzuk, Martin M.

Journal:

Year:

1997

Language:

english

File:

PDF, 1.80 MB

english, 1997

40

10.1038/40153

Orr, Harry T., Skinner, Pamela J., Koshy, Beena T., Cummings, Christopher J., Klement, Ivan A., Helin, Kara, Servadio, Antonio, Zoghbi, Huda Y.

Journal:

Year:

1997

Language:

english

File:

PDF, 1.26 MB

english, 1997

41

10.1038/40159

Zoghbi, Huda Y., Matilla, Antoni, Koshy, Beena T., Cummings, Christopher J., Isobe, Toshiaki, Orr, Harry T.

Journal:

Year:

1997

Language:

english

File:

PDF, 562 KB

english, 1997

42

Molecular neuroscience: BAC-to-BAC images of the brain

Zoghbi, Huda Y.

Journal:

Year:

2003

Language:

english

File:

PDF, 149 KB

english, 2003

43

10.1038/502

Cummings, Christopher J., Mancini, Michael A., Antalffy, Barbara, DeFranco, Donald B., Orr, Harry T., Zoghbi, Huda Y.

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 384 KB

english, 1998

44

10.1038/72101

Zoghbi, Huda Y., Lin, Xi, Antalffy, Barbara, Kang, Dongcheul, Orr, Harry T.

Journal:

Nature Neuroscience

Year:

2000

Language:

english

File:

PDF, 1.46 MB

english, 2000

45

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

Lim, Janghoo, Crespo-Barreto, Juan, Jafar-Nejad, Paymaan, Bowman, Aaron B., Richman, Ronald, Hill, David E., Orr, Harry T., Zoghbi, Huda Y.

Journal:

Year:

2008

Language:

english

File:

PDF, 728 KB

english, 2008

46

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

Ramocki, Melissa B., Zoghbi, Huda Y.

Journal:

Year:

2008

Language:

english

File:

PDF, 660 KB

english, 2008

47

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

Zhuchenko, Olga, Bailey, Jennifer, Bonnen, Penelope, Ashizawa, Tetsuo, Stockton, David W., Amos, Chris, Dobyns, William B., Subramony, S.H., Zoghbi, Huda Y., Lee, Cheng Chi

Journal:

Nature Genetics

Year:

1997

File:

PDF, 1.06 MB

1997

48

Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

Servadio, Antonio, Koshy, Beena, Armstrong, Dawna, Antalffy, Barbara, Orr, Harry T., Zoghbi, Huda Y.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 705 KB

1995

49

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Gouw, Launce G., Kaplan, Craig D., Haines, John H., Digre, Kathleen B., Rutledge, S. Lane, Matilla, Antoni, Leppert, Mark, Zoghbi, Huda Y., Ptácek, Louis J.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 460 KB

1995

50

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Orr, Harry T., Chung, Ming-yi, Banfi, Sandro, Kwiatkowski, Thomas J., Servadio, Antonio, Beaudet, Arthur L., McCall, Alanna E., Duvick, Lisa A., Ranum, Laura P. W., Zoghbi, Huda Y.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 824 KB

1993