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Huda Zoghbi
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61
Orr, Harry
14
Duvick, Lisa
12
Percy, Alan
12
Van den Veyver, Ignatia
11
Antalffy, Barbara
11
Beaudet, Arthur
11
Glaze, Daniel
10
Bellen, Hugo
10
Cummings, CJ
10
Sun, Yaling
9
Clark, Brent
8
Burright, Eric
8
Xu, Bisong
8
Botas, Juan
7
Watase, Kei
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All Publications
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2009: Rose Matthew F; Ren Jun; Ahmad Kaashif A; Chao Hsiao-Tuan; Klisch Tiemo J; Flora Adriano; Greer John J; Zoghbi Huda Y
Math1 is essential for the development of hindbrain neurons critical for perinatal breathing.
Neuron 2009;64(3):341-54.
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2009: Maricich Stephen M; Xia Anping; Mathes Erin L; Wang Vincent Y; Oghalai John S; Fritzsch Bernd; Zoghbi Huda Y
Atoh1-lineal neurons are required for hearing and for the survival of neurons in the spiral ganglion and brainstem accessory auditory nuclei.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(36):11123-33.
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2009: Jorgensen Nathan D; Andresen J Michael; Lagalwar Sara; Armstrong Ben; Stevens Sam; Byam Courtney E; Duvick Lisa A; Lai Shaojuan; Jafar-Nejad Paymaan; Zoghbi Huda Y; Clark H Brent; Orr Harry T
Phosphorylation of ATXN1 at Ser776 in the cerebellum.
Journal of neurochemistry 2009;110(2):675-86.
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2009: Ben-Shachar Shay; Chahrour Maria; Thaller Christina; Shaw Chad A; Zoghbi Huda Y
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.
Human molecular genetics 2009;18(13):2431-42.
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2009: Maricich Stephen M; Wellnitz Scott A; Nelson Aislyn M; Lesniak Daine R; Gerling Gregory J; Lumpkin Ellen A; Zoghbi Huda Y
Merkel cells are essential for light-touch responses.
Science (New York, N.Y.) 2009;324(5934):1580-2.
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2009: Carvalho Claudia M B; Zhang Feng; Liu Pengfei; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Shaw Chad; Peacock Sandra; Pursley Amber; Tavyev Y Jane; Ramocki Melissa B; Nawara Magdalena; Obersztyn Ewa; Vianna-Morgante Angela M; Stankiewicz Pawel; Zoghbi Huda Y; Cheung Sau Wai; Lupski James R
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Human molecular genetics 2009;18(12):2188-203.
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2009: Chao Hsiao-Tuan; Zoghbi Huda Y
The yin and yang of MeCP2 phosphorylation.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(12):4577-8.
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2009: Zoghbi Huda Y
Rett syndrome: what do we know for sure?
Nature neuroscience 2009;12(3):239-40.
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2009: Miesegaes George R; Klisch Tiemo J; Thaller Christina; Ahmad Kaashif A; Atkinson Richard C; Zoghbi Huda Y
Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development.
Developmental biology 2009;327(2):339-51.
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2009: Zoghbi Huda Y; Orr Harry T
Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1.
The Journal of biological chemistry 2009;284(12):7425-9.
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2009: Carlson Kerri M; Melcher Laura; Lai Shaojuan; Zoghbi Huda Y; Clark H Brent; Orr Harry T
Characterization of the zebrafish atxn1/axh gene family.
Journal of neurogenetics 2009;23(3):313-23.
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2008: Ramocki Melissa B; Zoghbi Huda Y
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
Nature 2008;455(7215):912-8.
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2008: Lee Yoontae; Samaco Rodney C; Gatchel Jennifer R; Thaller Christina; Orr Harry T; Zoghbi Huda Y
miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis.
Nature neuroscience 2008;11(10):1137-9.
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2008: Fyffe Sharyl L; Neul Jeff L; Samaco Rodney C; Chao Hsiao-Tuan; Ben-Shachar Shay; Moretti Paolo; McGill Bryan E; Goulding Evan H; Sullivan Elinor; Tecott Laurence H; Zoghbi Huda Y
Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.
Neuron 2008;59(6):947-58.
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2008: Watase Kei; Barrett Curtis F; Miyazaki Taisuke; Ishiguro Taro; Ishikawa Kinya; Hu Yuanxin; Unno Toshinori; Sun Yaling; Kasai Sayumi; Watanabe Masahiko; Gomez Christopher M; Mizusawa Hidehiro; Tsien Richard W; Zoghbi Huda Y
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(33):11987-92.
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2008: Samaco Rodney C; Fryer John D; Ren Jun; Fyffe Sharyl; Chao Hsiao-Tuan; Sun Yaling; Greer John J; Zoghbi Huda Y; Neul Jeffrey L
A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.
Human molecular genetics 2008;17(12):1718-27.
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2008: Chahrour Maria; Jung Sung Yun; Shaw Chad; Zhou Xiaobo; Wong Stephen T C; Qin Jun; Zoghbi Huda Y
MeCP2, a key contributor to neurological disease, activates and represses transcription.
Science (New York, N.Y.) 2008;320(5880):1224-9.
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2008: Lim Janghoo; Crespo-Barreto Juan; Jafar-Nejad Paymaan; Bowman Aaron B; Richman Ronald; Hill David E; Orr Harry T; Zoghbi Huda Y
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.
Nature 2008;452(7188):713-8.
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2008: Neul J L; Fang P; Barrish J; Lane J; Caeg E B; Smith E O; Zoghbi H; Percy A; Glaze D G
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
Neurology 2008;70(16):1313-21.
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2008: Gatchel Jennifer R; Watase Kei; Thaller Christina; Carson James P; Jafar-Nejad Paymaan; Shaw Chad; Zu Tao; Orr Harry T; Zoghbi Huda Y
The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(4):1291-6.
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2008: Cukier Holly N; Perez Alma M; Collins Ann L; Zhou Zhaolan; Zoghbi Huda Y; Botas Juan
Genetic modifiers of MeCP2 function in Drosophila.
PLoS genetics 2008;4(9):e1000179.
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2007: Al-Ramahi Ismael; Pérez Alma M; Lim Janghoo; Zhang Minghang; Sorensen Rie; de Haro Maria; Branco Joana; Pulst Stefan M; Zoghbi Huda Y; Botas Juan
dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1.
PLoS genetics 2007;3(12):e234.
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2007: Chahrour Maria; Zoghbi Huda Y
The story of Rett syndrome: from clinic to neurobiology.
Neuron 2007;56(3):422-37.
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2007: Chao Hsiao-Tuan; Zoghbi Huda Y; Rosenmund Christian
MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number.
Neuron 2007;56(1):58-65.
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2007: Alvarez-Saavedra Matías; Sáez Mauricio A; Kang Dongcheul; Zoghbi Huda Y; Young Juan I
Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis.
Human molecular genetics 2007;16(19):2315-25.
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2007: Flora Adriano; Garcia Jesus J; Thaller Christina; Zoghbi Huda Y
The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(39):15382-7.
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2007: Jorgensen Nathan D; Andresen J Michael; Pitt Jason E; Swenson Melissa A; Zoghbi Huda Y; Orr Harry T
Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1.
Journal of neurochemistry 2007;102(6):2040-8.
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2007: Cvetanovic Marija; Rooney Robert J; Garcia Jesus J; Toporovskaya Nataliya; Zoghbi Huda Y; Opal Puneet
The role of LANP and ataxin 1 in E4F-mediated transcriptional repression.
EMBO reports 2007;8(7):671-7.
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2007: Shroyer Noah F; Helmrath Michael A; Wang Vincent Y-C; Antalffy Barbara; Henning Susan J; Zoghbi Huda Y
Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis.
Gastroenterology 2007;132(7):2478-88.
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2007: Watase Kei; Gatchel Jennifer R; Sun Yaling; Emamian Effat; Atkinson Richard; Richman Ronald; Mizusawa Hidehiro; Orr Harry T; Shaw Chad; Zoghbi Huda Y
Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model.
PLoS medicine 2007;4(5):e182.
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2007: Bowman Aaron B; Lam Yung C; Jafar-Nejad Paymaan; Chen Hung-Kai; Richman Ronald; Samaco Rodney C; Fryer John D; Kahle Juliette J; Orr Harry T; Zoghbi Huda Y
Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.
Nature genetics 2007;39(3):373-9.
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2007: Orr Harry T; Zoghbi Huda Y
Trinucleotide repeat disorders.
Annual review of neuroscience 2007;30():575-621.
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2006: Lam Yung C; Bowman Aaron B; Jafar-Nejad Paymaan; Lim Janghoo; Richman Ronald; Fryer John D; Hyun Eric D; Duvick Lisa A; Orr Harry T; Botas Juan; Zoghbi Huda Y
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.
Cell 2006;127(7):1335-47.
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2006: del Gaudio Daniela; Fang Ping; Scaglia Fernando; Ward Patricia A; Craigen William J; Glaze Daniel G; Neul Jeffrey L; Patel Ankita; Lee Jennifer A; Irons Mira; Berry Susan A; Pursley Amber A; Grebe Theresa A; Freedenberg Debra; Martin Rick A; Hsich Gary E; Khera Jena R; Friedman Neil R; Zoghbi Huda Y; Eng Christine M; Lupski James R; Beaudet Arthur L; Cheung Sau Wai; Roa Benjamin B
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(12):784-92.
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2006: Serra Heliane G; Duvick Lisa; Zu Tao; Carlson Kerri; Stevens Sam; Jorgensen Nathan; Lysholm Alana; Burright Eric; Zoghbi Huda Y; Clark H Brent; Andresen J Michael; Orr Harry T
RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice.
Cell 2006;127(4):697-708.
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2006: McGill Bryan E; Bundle Sharyl F; Yaylaoglu Murat B; Carson James P; Thaller Christina; Zoghbi Huda Y
Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(48):18267-72.
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2006: Fryer John D; Zoghbi Huda Y
Huntingtin's critical cleavage.
Nature neuroscience 2006;9(9):1088-9.
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2006: Al-Ramahi Ismael; Lam Yung C; Chen Hung-Kai; de Gouyon Beatrice; Zhang Minghang; Pérez Alma M; Branco Joana; de Haro Maria; Patterson Cam; Zoghbi Huda Y; Botas Juan
CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation.
The Journal of biological chemistry 2006;281(36):26714-24.
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2006: Maricich Stephen M; Zoghbi Huda Y
Getting back to basics.
Cell 2006;126(1):11-5.
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2006: Moretti Paolo; Zoghbi Huda Y
MeCP2 dysfunction in Rett syndrome and related disorders.
Current opinion in genetics & development 2006;16(3):276-81.
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2006: Lim Janghoo; Hao Tong; Shaw Chad; Patel Akash J; Szabó Gábor; Rual Jean-François; Fisk C Joseph; Li Ning; Smolyar Alex; Hill David E; Barabási Albert-László; Vidal Marc; Zoghbi Huda Y
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
Cell 2006;125(4):801-14.
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2006: Helmlinger Dominique; Hardy Sara; Abou-Sleymane Gretta; Eberlin Adrien; Bowman Aaron B; Gansmüller Anne; Picaud Serge; Zoghbi Huda Y; Trottier Yvon; Tora Làszlò; Devys Didier
Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction.
PLoS biology 2006;4(3):e67.
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2006: Moretti Paolo; Levenson Jonathan M; Battaglia Fortunato; Atkinson Richard; Teague Ryan; Antalffy Barbara; Armstrong Dawna; Arancio Ottavio; Sweatt J David; Zoghbi Huda Y
Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(1):319-27.
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2005: Zoghbi Huda Y
SILencing misbehaving proteins.
Nature genetics 2005;37(12):1302-3.
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2005: Young Juan I; Hong Eugene P; Castle John C; Crespo-Barreto Juan; Bowman Aaron B; Rose Matthew F; Kang Dongcheul; Richman Ron; Johnson Jason M; Berget Susan; Zoghbi Huda Y
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(49):17551-8.
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2005: Shroyer Noah F; Wallis Deeann; Venken Koen J T; Bellen Hugo J; Zoghbi Huda Y
Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation.
Genes & development 2005;19(20):2412-7.
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2005: Gatchel Jennifer R; Zoghbi Huda Y
Diseases of unstable repeat expansion: mechanisms and common principles.
Nature reviews. Genetics 2005;6(10):743-55.
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2005: Wang Vincent Y; Rose Matthew F; Zoghbi Huda Y
Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum.
Neuron 2005;48(1):31-43.
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2005: Rual Jean-François; Venkatesan Kavitha; Hao Tong; Hirozane-Kishikawa Tomoko; Dricot Amélie; Li Ning; Berriz Gabriel F; Gibbons Francis D; Dreze Matija; Ayivi-Guedehoussou Nono; Klitgord Niels; Simon Christophe; Boxem Mike; Milstein Stuart; Rosenberg Jennifer; Goldberg Debra S; Zhang Lan V; Wong Sharyl L; Franklin Giovanni; Li Siming; Albala Joanna S; Lim Janghoo; Fraughton Carlene; Llamosas Estelle; Cevik Sebiha; Bex Camille; Lamesch Philippe; Sikorski Robert S; Vandenhaute Jean; Zoghbi Huda Y; Smolyar Alex; Bosak Stephanie; Sequerra Reynaldo; Doucette-Stamm Lynn; Cusick Michael E; Hill David E; Roth Frederick P; Vidal Marc
Towards a proteome-scale map of the human protein-protein interaction network.
Nature 2005;437(7062):1173-8.
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2005: Zoghbi Huda Y
MeCP2 dysfunction in humans and mice.
Journal of child neurology 2005;20(9):736-40.
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2005: Tsuda Hiroshi; Jafar-Nejad Hamed; Patel Akash J; Sun Yaling; Chen Hung-Kai; Rose Matthew F; Venken Koen J T; Botas Juan; Orr Harry T; Bellen Hugo J; Zoghbi Huda Y
The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins.
Cell 2005;122(4):633-44.
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2005: Riley Brigit E; Zoghbi Huda Y; Orr Harry T
SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal.
The Journal of biological chemistry 2005;280(23):21942-8.
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2005: Vierra-Green Cynthia A; Orr Harry T; Zoghbi Huda Y; Ferrington Deborah A
Identification of a novel phosphorylation site in ataxin-1.
Biochimica et biophysica acta 2005;1744(1):11-8.
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2005: Chen D-H; Cimino P J; Ranum L P W; Zoghbi H Y; Yabe I; Schut L; Margolis R L; Lipe H P; Feleke A; Matsushita M; Wolff J; Morgan C; Lau D; Fernandez M; Sasaki H; Raskind W H; Bird T D
The clinical and genetic spectrum of spinocerebellar ataxia 14.
Neurology 2005;64(7):1258-60.
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2005: Kaytor Michael D; Byam Courtney E; Tousey Susan K; Stevens Samuel D; Zoghbi Huda Y; Orr Harry T
A cell-based screen for modulators of ataxin-1 phosphorylation.
Human molecular genetics 2005;14(8):1095-105.
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2005: Ross Mark T; Grafham Darren V; Coffey Alison J; Scherer Steven; McLay Kirsten; Muzny Donna; Platzer Matthias; Howell Gareth R; Burrows Christine; Bird Christine P; Frankish Adam; Lovell Frances L; Howe Kevin L; Ashurst Jennifer L; Fulton Robert S; Sudbrak Ralf; Wen Gaiping; Jones Matthew C; Hurles Matthew E; Andrews T Daniel; Scott Carol E; Searle Stephen; Ramser Juliane; Whittaker Adam; Deadman Rebecca; Carter Nigel P; Hunt Sarah E; Chen Rui; Cree Andrew; Gunaratne Preethi; Havlak Paul; Hodgson Anne; Metzker Michael L; Richards Stephen; Scott Graham; Steffen David; Sodergren Erica; Wheeler David A; Worley Kim C; Ainscough Rachael; Ambrose Kerrie D; Ansari-Lari M Ali; Aradhya Swaroop; Ashwell Robert I S; Babbage Anne K; Bagguley Claire L; Ballabio Andrea; Banerjee Ruby; Barker Gary E; Barlow Karen F; Barrett Ian P; Bates Karen N; Beare David M; Beasley Helen; Beasley Oliver; Beck Alfred; Bethel Graeme; Blechschmidt Karin; Brady Nicola; Bray-Allen Sarah; Bridgeman Anne M; Brown Andrew J; Brown Mary J; Bonnin David; Bruford Elspeth A; Buhay Christian; Burch Paula; Burford Deborah; Burgess Joanne; Burrill Wayne; Burton John; Bye Jackie M; Carder Carol; Carrel Laura; Chako Joseph; Chapman Joanne C; Chavez Dean; Chen Ellson; Chen Guan; Chen Yuan; Chen Zhijian; Chinault Craig; Ciccodicola Alfredo; Clark Sue Y; Clarke Graham; Clee Chris M; Clegg Sheila; Clerc-Blankenburg Kerstin; Clifford Karen; Cobley Vicky; Cole Charlotte G; Conquer Jen S; Corby Nicole; Connor Richard E; David Robert; Davies Joy; Davis Clay; Davis John; Delgado Oliver; Deshazo Denise; Dhami Pawandeep; Ding Yan; Dinh Huyen; Dodsworth Steve; Draper Heather; Dugan-Rocha Shannon; Dunham Andrew; Dunn Matthew; Durbin K James; Dutta Ireena; Eades Tamsin; Ellwood Matthew; Emery-Cohen Alexandra; Errington Helen; Evans Kathryn L; Faulkner Louisa; Francis Fiona; Frankland John; Fraser Audrey E; Galgoczy Petra; Gilbert James; Gill Rachel; Glöckner Gernot; Gregory Simon G; Gribble Susan; Griffiths Coline; Grocock Russell; Gu Yanghong; Gwilliam Rhian; Hamilton Cerissa; Hart Elizabeth A; Hawes Alicia; Heath Paul D; Heitmann Katja; Hennig Steffen; Hernandez Judith; Hinzmann Bernd; Ho Sarah; Hoffs Michael; Howden Phillip J; Huckle Elizabeth J; Hume Jennifer; Hunt Paul J; Hunt Adrienne R; Isherwood Judith; Jacob Leni; Johnson David; Jones Sally; de Jong Pieter J; Joseph Shirin S; Keenan Stephen; Kelly Susan; Kershaw Joanne K; Khan Ziad; Kioschis Petra; Klages Sven; Knights Andrew J; Kosiura Anna; Kovar-Smith Christie; Laird Gavin K; Langford Cordelia; Lawlor Stephanie; Leversha Margaret; Lewis Lora; Liu Wen; Lloyd Christine; Lloyd David M; Loulseged Hermela; Loveland Jane E; Lovell Jamieson D; Lozado Ryan; Lu Jing; Lyne Rachael; Ma Jie; Maheshwari Manjula; Matthews Lucy H; McDowall Jennifer; McLaren Stuart; McMurray Amanda; Meidl Patrick; Meitinger Thomas; Milne Sarah; Miner George; Mistry Shailesh L; Morgan Margaret; Morris Sidney; Müller Ines; Mullikin James C; Nguyen Ngoc; Nordsiek Gabriele; Nyakatura Gerald; O'Dell Christopher N; Okwuonu Geoffery; Palmer Sophie; Pandian Richard; Parker David; Parrish Julia; Pasternak Shiran; Patel Dina; Pearce Alex V; Pearson Danita M; Pelan Sarah E; Perez Lesette; Porter Keith M; Ramsey Yvonne; Reichwald Kathrin; Rhodes Susan; Ridler Kerry A; Schlessinger David; Schueler Mary G; Sehra Harminder K; Shaw-Smith Charles; Shen Hua; Sheridan Elizabeth M; Shownkeen Ratna; Skuce Carl D; Smith Michelle L; Sotheran Elizabeth C; Steingruber Helen E; Steward Charles A; Storey Roy; Swann R Mark; Swarbreck David; Tabor Paul E; Taudien Stefan; Taylor Tineace; Teague Brian; Thomas Karen; Thorpe Andrea; Timms Kirsten; Tracey Alan; Trevanion Steve; Tromans Anthony C; d'Urso Michele; Verduzco Daniel; Villasana Donna; Waldron Lenee; Wall Melanie; Wang Qiaoyan; Warren James; Warry Georgina L; Wei Xuehong; West Anthony; Whitehead Siobhan L; Whiteley Mathew N; Wilkinson Jane E; Willey David L; Williams Gabrielle; Williams Leanne; Williamson Angela; Williamson Helen; Wilming Laurens; Woodmansey Rebecca L; Wray Paul W; Yen Jennifer; Zhang Jingkun; Zhou Jianling; Zoghbi Huda; Zorilla Sara; Buck David; Reinhardt Richard; Poustka Annemarie; Rosenthal André; Lehrach Hans; Meindl Alfons; Minx Patrick J; Hillier Ladeana W; Willard Huntington F; Wilson Richard K; Waterston Robert H; Rice Catherine M; Vaudin Mark; Coulson Alan; Nelson David L; Weinstock George; Sulston John E; Durbin Richard; Hubbard Tim; Gibbs Richard A; Beck Stephan; Rogers Jane; Bentley David R
The DNA sequence of the human X chromosome.
Nature 2005;434(7031):325-37.
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2005: Bowman Aaron B; Yoo Seung-Yun; Dantuma Nico P; Zoghbi Huda Y
Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.
Human molecular genetics 2005;14(5):679-91.
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2005: Amir R E; Fang P; Yu Z; Glaze D G; Percy A K; Zoghbi H Y; Roa B B; Van den Veyver I B
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
Journal of medical genetics 2005;42(2):e15.
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2005: Moretti Paolo; Bouwknecht J Adriaan; Teague Ryan; Paylor Richard; Zoghbi Huda Y
Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.
Human molecular genetics 2005;14(2):205-20.
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2004: Collins Ann L; Levenson Jonathan M; Vilaythong Alexander P; Richman Ronald; Armstrong Dawna L; Noebels Jeffrey L; David Sweatt J; Zoghbi Huda Y
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.
Human molecular genetics 2004;13(21):2679-89.
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2004: Zu Tao; Duvick Lisa A; Kaytor Michael D; Berlinger Michael S; Zoghbi Huda Y; Clark H Brent; Orr Harry T
Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2004;24(40):8853-61.
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2004: Serra Heliane G; Byam Courtney E; Lande Jeffrey D; Tousey Susan K; Zoghbi Huda Y; Orr Harry T
Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice.
Human molecular genetics 2004;13(20):2535-43.
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2004: Riley Brigit E; Xu Yifan; Zoghbi Huda Y; Orr Harry T
The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1Up.
The Journal of biological chemistry 2004;279(40):42290-301.
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2004: Matsuura Tohru; Fang Ping; Lin Xi; Khajavi Mehrdad; Tsuji Kuniko; Rasmussen Astrid; Grewal Raji P; Achari Madhureeta; Alonso Maria E; Pulst Stefan M; Zoghbi Huda Y; Nelson David L; Roa Benjamin B; Ashizawa Tetsuo
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
American journal of human genetics 2004;74(6):1216-24.
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2004: Neul Jeffrey L; Zoghbi Huda Y
Rett syndrome: a prototypical neurodevelopmental disorder.
The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry 2004;10(2):118-28.
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2004: Opal Puneet; Garcia Jesus J; McCall Alanna E; Xu Bisong; Weeber Edwin J; Sweatt J David; Orr Harry T; Zoghbi Huda Y
Generation and characterization of LANP/pp32 null mice.
Molecular and cellular biology 2004;24(8):3140-9.
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2004: Young Juan I; Zoghbi Huda Y
X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.
American journal of human genetics 2004;74(3):511-20.
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2003: Fritz-Six Kimberly L; Cox Patrick R; Fischer Robert S; Xu Bisong; Gregorio Carol C; Zoghbi Huda Y; Fowler Velia M
Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality.
The Journal of cell biology 2003;163(5):1033-44.
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2003: Watase Kei; Venken Koen J T; Sun Yaling; Orr Harry T; Zoghbi Huda Y
Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1.
Human molecular genetics 2003;12(21):2789-95.
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2003: Zoghbi Huda Y
Postnatal neurodevelopmental disorders: meeting at the synapse?
Science (New York, N.Y.) 2003;302(5646):826-30.
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2003: Zoghbi Huda Y
Molecular neuroscience: BAC-to-BAC images of the brain.
Nature 2003;425(6961):907-8.
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2003: Opal Puneet; Garcia Jesus J; Propst Friedrich; Matilla Antoni; Orr Harry T; Zoghbi Huda Y
Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis.
The Journal of biological chemistry 2003;278(36):34691-9.
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2003: Stancheva Irina; Collins Anne L; Van den Veyver Ingatia B; Zoghbi Huda; Meehan Richard R
A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos.
Molecular cell 2003;12(2):425-35.
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2003: Patterson Marc C; Zoghbi Huda Y
Mental retardation: X marks the spot.
Neurology 2003;61(2):156-7.
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2003: Cox Patrick R; Fowler Velia; Xu Bisong; Sweatt J David; Paylor Richard; Zoghbi Huda Y
Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory.
Molecular and cellular neurosciences 2003;23(1):1-12.
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2003: Chen Hung-Kai; Fernandez-Funez Pedro; Acevedo Summer F; Lam Yung C; Kaytor Michael D; Fernandez Michael H; Aitken Alastair; Skoulakis Efthimios M C; Orr Harry T; Botas Juan; Zoghbi Huda Y
Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.
Cell 2003;113(4):457-68.
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2003: Emamian Effat S; Kaytor Michael D; Duvick Lisa A; Zu Tao; Tousey Susan K; Zoghbi Huda Y; Clark H Brent; Orr Harry T
Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice.
Neuron 2003;38(3):375-87.
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2003: Watase Kei; Zoghbi Huda Y
Modelling brain diseases in mice: the challenges of design and analysis.
Nature reviews. Genetics 2003;4(4):296-307.
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2003: Yoo Seung Yun; Pennesi Mark E; Weeber Edwin J; Xu Bisong; Atkinson Richard; Chen Shiming; Armstrong Dawna L; Wu Samuel M; Sweatt J David; Zoghbi Huda Y
SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.
Neuron 2003;37(3):383-401.
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2003: Wallis Deeann; Hamblen Melanie; Zhou Yi; Venken Koen J T; Schumacher Armin; Grimes H Leighton; Zoghbi Huda Y; Orkin Stuart H; Bellen Hugo J
The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival.
Development (Cambridge, England) 2003;130(1):221-32.
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2002: Prakash Siddharth K; Cormier Trena A; McCall Alanna E; Garcia Jesus J; Sierra Rebecca; Haupt Bisong; Zoghbi Huda Y; Van Den Veyver Ignatia B
Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome.
Human molecular genetics 2002;11(25):3237-48.
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2002: Shahbazian Mona D; Zoghbi Huda Y
Rett syndrome and MeCP2: linking epigenetics and neuronal function.
American journal of human genetics 2002;71(6):1259-72.
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2002: Wang Vincent Y; Hassan Bassem A; Bellen Hugo J; Zoghbi Huda Y
Drosophila atonal fully rescues the phenotype of Math1 null mice: new functions evolve in new cellular contexts.
Current biology : CB 2002;12(18):1611-6.
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2002: Jensen Patricia; Zoghbi Huda Y; Goldowitz Dan
Dissection of the cellular and molecular events that position cerebellar Purkinje cells: a study of the math1 null-mutant mouse.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2002;22(18):8110-6.
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2002: Zoghbi Huda Y; Botas Juan
Mouse and fly models of neurodegeneration.
Trends in genetics : TIG 2002;18(9):463-71.
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2002: Shahbazian Mona D; Sun Yaling; Zoghbi Huda Y
Balanced X chromosome inactivation patterns in the Rett syndrome brain.
American journal of medical genetics 2002;111(2):164-8.
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2002: Shahbazian Mona; Young Juan; Yuva-Paylor Lisa; Spencer Corinne; Antalffy Barbara; Noebels Jeffrey; Armstrong Dawna; Paylor Richard; Zoghbi Huda
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.
Neuron 2002;35(2):243-54.
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2002: Lin Xi; Jung Joonil; Kang Dongcheul; Xu Bisong; Zaret Kenneth S; Zoghbi Huda
Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in mice.
Gastroenterology 2002;123(1):345-51.
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2002: Zoghbi Huda Y; Nelson David
Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2002;20(3-5):467-8.
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2002: Watase Kei; Weeber Edwin J; Xu Bisong; Antalffy Barbara; Yuva-Paylor Lisa; Hashimoto Kouichi; Kano Masanobu; Atkinson Richard; Sun Yaling; Armstrong Dawna L; Sweatt J David; Orr Harry T; Paylor Richard; Zoghbi Huda Y
A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration.
Neuron 2002;34(6):905-19.
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2002: Opal Puneet; Zoghbi Huda Y
The role of chaperones in polyglutamine disease.
Trends in molecular medicine 2002;8(5):232-6.
-
2002: Chen Ping; Johnson Jane E; Zoghbi Huda Y; Segil Neil
The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination.
Development (Cambridge, England) 2002;129(10):2495-505.
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2002: Ueda Hiroko; Goto Jun; Hashida Hideji; Lin Xia; Oyanagi Kiyomitsu; Kawano Hitoshi; Zoghbi Huda Y; Kanazawa Ichiro; Okazawa Hitoshi
Enhanced SUMOylation in polyglutamine diseases.
Biochemical and biophysical research communications 2002;293(1):307-13.
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2002: Gu Yanghong; McIlwain Kellie L; Weeber Edwin J; Yamagata Takanori; Xu Bisong; Antalffy Barbara A; Reyes Christine; Yuva-Paylor Lisa; Armstrong Dawna; Zoghbi Huda; Sweatt J David; Paylor Richard; Nelson David L
Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2002;22(7):2753-63.
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2002: Matsuura T; Ranum L P W; Volpini V; Pandolfo M; Sasaki H; Tashiro K; Watase K; Zoghbi H Y; Ashizawa T
Spinocerebellar ataxia type 10 is rare in populations other than Mexicans.
Neurology 2002;58(6):983-4.
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2002: Shahbazian Mona D; Antalffy Barbara; Armstrong Dawna L; Zoghbi Huda Y
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation.
Human molecular genetics 2002;11(2):115-24.
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2002: Van den Veyver Ignatia B; Zoghbi Huda Y
Genetic basis of Rett syndrome.
Mental retardation and developmental disabilities research reviews 2002;8(2):82-6.
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2002: Zoghbi Huda Y
Introduction: Rett syndrome.
Mental retardation and developmental disabilities research reviews 2002;8(2):59-60.
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2002: Skinner Pamela J; Vierra-Green Cynthia A; Emamian Effat; Zoghbi Huda Y; Orr Harry T
Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice.
Neuromolecular medicine 2002;1(1):33-42.
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2001: Shahbazian M D; Orr H T; Zoghbi H Y
Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion.
Neurobiology of disease 2001;8(6):974-81.
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2001: Yang Q; Bermingham N A; Finegold M J; Zoghbi H Y
Requirement of Math1 for secretory cell lineage commitment in the mouse intestine.
Science (New York, N.Y.) 2001;294(5549):2155-8.
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2001: Van den Veyver I B; Zoghbi H Y
Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.
Brain & development 2001;23 Suppl 1():S147-51.
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2001: Piedras-Renteria E S; Watase K; Harata N; Zhuchenko O; Zoghbi H Y; Lee C C; Tsien R W
Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2001;21(23):9185-93.
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2001: Orr H T; Zoghbi H Y
SCA1 molecular genetics: a history of a 13 year collaboration against glutamines.
Human molecular genetics 2001;10(20):2307-11.
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2001: Cormier T A; Prakash S K; Magner D B; Zoghbi H Y; Van den Veyver I B
Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.
Mammalian genome : official journal of the International Mammalian Genome Society 2001;12(10):796-8.
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2001: Skinner P J; Vierra-Green C A; Clark H B; Zoghbi H Y; Orr H T
Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice.
The American journal of pathology 2001;159(3):905-13.
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2001: Cummings C J; Sun Y; Opal P; Antalffy B; Mestril R; Orr H T; Dillmann W H; Zoghbi H Y
Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice.
Human molecular genetics 2001;10(14):1511-8.
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2001: Wang V Y; Zoghbi H Y
Genetic regulation of cerebellar development.
Nature reviews. Neuroscience 2001;2(7):484-91.
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2001: Bermingham N A; Hassan B A; Wang V Y; Fernandez M; Banfi S; Bellen H J; Fritzsch B; Zoghbi H Y
Proprioceptor pathway development is dependent on Math1.
Neuron 2001;30(2):411-22.
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2001: Inoue T; Lin X; Kohlmeier K A; Orr H T; Zoghbi H Y; Ross W N
Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice.
Journal of neurophysiology 2001;85(4):1750-60.
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2001: Shahbazian M D; Zoghbi H Y
Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.
Current opinion in neurology 2001;14(2):171-6.
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2001: Shi O; Morris S M; Zoghbi H; Porter C W; O'Brien W E
Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene.
Molecular and cellular biology 2001;21(3):811-3.
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2001: Yue S; Serra H G; Zoghbi H Y; Orr H T
The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.
Human molecular genetics 2001;10(1):25-30.
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2001: Cox P R; Siddique T; Zoghbi H Y
Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4.
BMC genomics 2001;2(1):7.
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2000: Buyse I M; Fang P; Hoon K T; Amir R E; Zoghbi H Y; Roa B B
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
American journal of human genetics 2000;67(6):1428-36.
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2000: Fernandez-Funez P; Nino-Rosales M L; de Gouyon B; She W C; Luchak J M; Martinez P; Turiegano E; Benito J; Capovilla M; Skinner P J; McCall A; Canal I; Orr H T; Zoghbi H Y; Botas J
Identification of genes that modify ataxin-1-induced neurodegeneration.
Nature 2000;408(6808):101-6.
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2000: Zoghbi H Y; Gage F H; Choi D W
Neurobiology of disease.
Current opinion in neurobiology 2000;10(5):655-60.
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2000: Zoghbi H Y
Spinocerebellar ataxias.
Neurobiology of disease 2000;7(5):523-7.
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2000: Matsuura T; Yamagata T; Burgess D L; Rasmussen A; Grewal R P; Watase K; Khajavi M; McCall A E; Davis C F; Zu L; Achari M; Pulst S M; Alonso E; Noebels J L; Nelson D L; Zoghbi H Y; Ashizawa T
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
Nature genetics 2000;26(2):191-4.
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2000: Davidson J D; Riley B; Burright E N; Duvick L A; Zoghbi H Y; Orr H T
Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein.
Human molecular genetics 2000;9(15):2305-12.
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2000: Van den Veyver I B; Zoghbi H Y
Methyl-CpG-binding protein 2 mutations in Rett syndrome.
Current opinion in genetics & development 2000;10(3):275-9.
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2000: Amir R E; Van den Veyver I B; Schultz R; Malicki D M; Tran C Q; Dahle E J; Philippi A; Timar L; Percy A K; Motil K J; Lichtarge O; Smith E O; Glaze D G; Zoghbi H Y
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.
Annals of neurology 2000;47(5):670-9.
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2000: Cummings C J; Zoghbi H Y
Fourteen and counting: unraveling trinucleotide repeat diseases.
Human molecular genetics 2000;9(6):909-16.
-
2000: Zhang W; Amir R; Stockton D W; Van Den Veyver I B; Bacino C A; Zoghbi H Y
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.
American journal of human genetics 2000;66(4):1461-4.
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2000: Orr H T; Zoghbi H Y
Reversing neurodegeneration: a promise unfolds.
Cell 2000;101(1):1-4.
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2000: Hassan B A; Bermingham N A; He Y; Sun Y; Jan Y N; Zoghbi H Y; Bellen H J
atonal regulates neurite arborization but does not act as a proneural gene in the Drosophila brain.
Neuron 2000;25(3):549-61.
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2000: Lorenzetti D; Watase K; Xu B; Matzuk M M; Orr H T; Zoghbi H Y
Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus.
Human molecular genetics 2000;9(5):779-85.
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2000: Prakash S K; Paylor R; Jenna S; Lamarche-Vane N; Armstrong D L; Xu B; Mancini M A; Zoghbi H Y
Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA.
Human molecular genetics 2000;9(4):477-88.
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2000: Helms A W; Abney A L; Ben-Arie N; Zoghbi H Y; Johnson J E
Autoregulation and multiple enhancers control Math1 expression in the developing nervous system.
Development (Cambridge, England) 2000;127(6):1185-96.
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2000: Ben-Arie N; Hassan B A; Bermingham N A; Malicki D M; Armstrong D; Matzuk M; Bellen H J; Zoghbi H Y
Functional conservation of atonal and Math1 in the CNS and PNS.
Development (Cambridge, England) 2000;127(5):1039-48.
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2000: Lin X; Antalffy B; Kang D; Orr H T; Zoghbi H Y
Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.
Nature neuroscience 2000;3(2):157-63.
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2000: Cox P R; Zoghbi H Y
Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs.
Genomics 2000;63(1):97-107.
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2000: Amir R; Dahle E J; Toriolo D; Zoghbi H Y
Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq.
American journal of medical genetics 2000;90(1):69-71.
-
2000: Cummings C J; Zoghbi H Y
Trinucleotide repeats: mechanisms and pathophysiology.
Annual review of genomics and human genetics 2000;1():281-328.
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2000: Amir R E; Zoghbi H Y
Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.
American journal of medical genetics 2000;97(2):147-52.
-
2000: Heintz N; Zoghbi H Y
Insights from mouse models into the molecular basis of neurodegeneration.
Annual review of physiology 2000;62():779-802.
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2000: Zoghbi H Y; Orr H T
Glutamine repeats and neurodegeneration.
Annual review of neuroscience 2000;23():217-47.
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1999: Cummings C J; Reinstein E; Sun Y; Antalffy B; Jiang Y; Ciechanover A; Orr H T; Beaudet A L; Zoghbi H Y
Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice.
Neuron 1999;24(4):879-92.
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1999: Wan M; Lee S S; Zhang X; Houwink-Manville I; Song H R; Amir R E; Budden S; Naidu S; Pereira J L; Lo I F; Zoghbi H Y; Schanen N C; Francke U
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
American journal of human genetics 1999;65(6):1520-9.
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1999: Lin X; Cummings C J; Zoghbi H Y
Expanding our understanding of polyglutamine diseases through mouse models.
Neuron 1999;24(3):499-502.
-
1999: Zoghbi H Y; Orr H T
Polyglutamine diseases: protein cleavage and aggregation.
Current opinion in neurobiology 1999;9(5):566-70.
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1999: Amir R E; Van den Veyver I B; Wan M; Tran C Q; Francke U; Zoghbi H Y
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
Nature genetics 1999;23(2):185-8.
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1999: Prakash S K; Van den Veyver I B; Franco B; Volta M; Ballabio A; Zoghbi H Y
Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3.
Genomics 1999;59(1):77-84.
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1999: Cummings C J; Orr H T; Zoghbi H Y
Progress in pathogenesis studies of spinocerebellar ataxia type 1.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1999;354(1386):1079-81.
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1999: Bermingham N A; Hassan B A; Price S D; Vollrath M A; Ben-Arie N; Eatock R A; Bellen H J; Lysakowski A; Zoghbi H Y
Math1: an essential gene for the generation of inner ear hair cells.
Science (New York, N.Y.) 1999;284(5421):1837-41.
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1999: Matsuura T; Achari M; Khajavi M; Bachinski L L; Zoghbi H Y; Ashizawa T
Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.
Annals of neurology 1999;45(3):407-11.
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1999: Klement I A; Zoghbi H Y; Orr H T
Pathogenesis of polyglutamine-induced disease: A model for SCA1.
Molecular genetics and metabolism 1999;66(3):172-8.
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1998: Benton C S; de Silva R; Rutledge S L; Bohlega S; Ashizawa T; Zoghbi H Y
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype.
Neurology 1998;51(4):1081-6.
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1998: Klement I A; Skinner P J; Kaytor M D; Yi H; Hersch S M; Clark H B; Zoghbi H Y; Orr H T
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.
Cell 1998;95(1):41-53.
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1998: Takano H; Cancel G; Ikeuchi T; Lorenzetti D; Mawad R; Stevanin G; Didierjean O; Dürr A; Oyake M; Shimohata T; Sasaki R; Koide R; Igarashi S; Hayashi S; Takiyama Y; Nishizawa M; Tanaka H; Zoghbi H; Brice A; Tsuji S
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
American journal of human genetics 1998;63(4):1060-6.
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1998: Van den Veyver I B; Cormier T A; Jurecic V; Baldini A; Zoghbi H Y
Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22.
Genomics 1998;51(2):251-61.
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1998: Matilla A; Roberson E D; Banfi S; Morales J; Armstrong D L; Burright E N; Orr H T; Sweatt J D; Zoghbi H Y; Matzuk M M
Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1998;18(14):5508-16.
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1998: Van den Veyver I B; Subramanian S; Zoghbi H Y
Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome.
American journal of medical genetics 1998;78(2):179-81.
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1998: Cummings C J; Dahle E J; Zoghbi H Y
Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome.
American journal of medical genetics 1998;78(2):176-8.
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1998: Narayanan V; Olinsky S; Dahle E; Naidu S; Zoghbi H Y
Mutation analysis of the M6b gene in patients with Rett syndrome.
American journal of medical genetics 1998;78(2):165-8.
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1998: Cummings C J; Mancini M A; Antalffy B; DeFranco D B; Orr H T; Zoghbi H Y
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.
Nature genetics 1998;19(2):148-54.
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1998: Pearson C E; Eichler E E; Lorenzetti D; Kramer S F; Zoghbi H Y; Nelson D L; Sinden R R
Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation.
Biochemistry 1998;37(8):2701-8.
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1997: Schaefer L; Prakash S; Zoghbi H Y
Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.
Genomics 1997;46(2):268-77.
-
1997: Zoghbi H Y
CAG repeats in SCA6. Anticipating new clues.
Neurology 1997;49(5):1196-9.
-
1997: Ben-Arie N; Bellen H J; Armstrong D L; McCall A E; Gordadze P R; Guo Q; Matzuk M M; Zoghbi H Y
Math1 is essential for genesis of cerebellar granule neurons.
Nature 1997;390(6656):169-72.
-
1997: Kaytor M D; Burright E N; Duvick L A; Zoghbi H Y; Orr H T
Increased trinucleotide repeat instability with advanced maternal age.
Human molecular genetics 1997;6(12):2135-9.
-
1997: Matilla A; Koshy B T; Cummings C J; Isobe T; Orr H T; Zoghbi H Y
The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1.
Nature 1997;389(6654):974-8.
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1997: Skinner P J; Koshy B T; Cummings C J; Klement I A; Helin K; Servadio A; Zoghbi H Y; Orr H T
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures.
Nature 1997;389(6654):971-4.
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1997: Lorenzetti D; Bohlega S; Zoghbi H Y
The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia.
Neurology 1997;49(4):1009-13.
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1997: Clark H B; Burright E N; Yunis W S; Larson S; Wilcox C; Hartman B; Matilla A; Zoghbi H Y; Orr H T
Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1997;17(19):7385-95.
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1997: Schanen N C; Dahle E J; Capozzoli F; Holm V A; Zoghbi H Y; Francke U
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
American journal of human genetics 1997;61(3):634-41.
-
1997: Heintz N; Zoghbi H
alpha-Synuclein--a link between Parkinson and Alzheimer diseases?
Nature genetics 1997;16(4):325-7.
-
1997: Koshy B T; Zoghbi H Y
The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis.
Brain pathology (Zurich, Switzerland) 1997;7(3):927-42.
-
1997: Zoghbi H Y
Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders.
Pediatric research 1997;41(5):722-6.
-
1997: Burright E N; Davidson J D; Duvick L A; Koshy B; Zoghbi H Y; Orr H T
Identification of a self-association region within the SCA1 gene product, ataxin-1.
Human molecular genetics 1997;6(4):513-8.
-
1997: Zhuchenko O; Bailey J; Bonnen P; Ashizawa T; Stockton D W; Amos C; Dobyns W B; Subramony S H; Zoghbi H Y; Lee C C
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Nature genetics 1997;15(1):62-9.
-
1996: Zoghbi H Y
The expanding world of ataxins.
Nature genetics 1996;14(3):237-8.
-
1996: Koshy B; Matilla T; Burright E N; Merry D E; Fischbeck K H; Orr H T; Zoghbi H Y
Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase.
Human molecular genetics 1996;5(9):1311-8.
-
1996: Ben-Arie N; McCall A E; Berkman S; Eichele G; Bellen H J; Zoghbi H Y
Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis.
Human molecular genetics 1996;5(9):1207-16.
-
1996: Schaefer L; Ballabio A; Zoghbi H Y
Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS).
Genomics 1996;34(2):166-72.
-
1996: Banfi S; Servadio A; Chung M; Capozzoli F; Duvick L A; Elde R; Zoghbi H Y; Orr H T
Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1).
Human molecular genetics 1996;5(1):33-40.
-
1996: Orr H T; Zoghbi H Y
Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1.
Cold Spring Harbor symposia on quantitative biology 1996;61():649-57.
-
1996: Banfi S; Zoghbi H Y
Detection of chimerism in YAC clones.
Methods in molecular biology (Clifton, N.J.) 1996;54():115-21.
-
1995: O'Donnell D M; Zoghbi H Y
Trinucleotide repeat disorders in pediatrics.
Current opinion in pediatrics 1995;7(6):715-25.
-
1995: Servadio A; McCall A; Zoghbi H; Eicher E M
Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes.
Genomics 1995;29(3):812-3.
-
1995: Burright E N; Clark H B; Servadio A; Matilla T; Feddersen R M; Yunis W S; Duvick L A; Zoghbi H Y; Orr H T
SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat.
Cell 1995;82(6):937-48.
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1995: Zoghbi H Y
Analysis of the CAG repeat and gene product in spinocerebellar ataxia type 1.
Proceedings of the Association of American Physicians 1995;107(2):231-6.
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1995: Chong S S; McCall A E; Cota J; Subramony S H; Orr H T; Hughes M R; Zoghbi H Y
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.
Nature genetics 1995;10(3):344-50.
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1995: Matilla T; McCall A; Subramony S H; Zoghbi H Y
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.
Annals of neurology 1995;38(1):68-72.
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1995: Servadio A; Koshy B; Armstrong D; Antalffy B; Orr H T; Zoghbi H Y
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals.
Nature genetics 1995;10(1):94-8.
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1995: Gouw L G; Kaplan C D; Haines J H; Digre K B; Rutledge S L; Matilla A; Leppert M; Zoghbi H Y; Ptácek L J
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.
Nature genetics 1995;10(1):89-93.
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1995: Zoghbi H Y; Orr H T
Spinocerebellar ataxia type 1.
Seminars in cell biology 1995;6(1):29-35.
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1995: Bond J S; Rojas K; Overhauser J; Zoghbi H Y; Jiang W
The structural genes, MEP1A and MEP1B, for the alpha and beta subunits of the metalloendopeptidase meprin map to human chromosomes 6p and 18q, respectively.
Genomics 1995;25(1):300-3.
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1995: Zoghbi H Y
Spinocerebellar ataxia type 1.
Clinical neuroscience (New York, N.Y.) 1995;3(1):5-11.
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1994: Kish S J; el-Awar M; Stuss D; Nobrega J; Currier R; Aita J F; Schut L; Zoghbi H Y; Freedman M
Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia: relationship to ataxia severity.
Neurology 1994;44(9):1738-46.
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1994: Banfi S; Zoghbi H Y
Molecular genetics of hereditary ataxias.
Baillière's clinical neurology 1994;3(2):281-95.
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1994: Banfi S; Servadio A; Chung M Y; Kwiatkowski T J; McCall A E; Duvick L A; Shen Y; Roth E J; Orr H T; Zoghbi H Y
Identification and characterization of the gene causing type 1 spinocerebellar ataxia.
Nature genetics 1994;7(4):513-20.
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1994: Wapenaar M C; Schiaffino M V; Bassi M T; Schaefer L; Chinault A C; Zoghbi H Y; Ballabio A
A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.
Human molecular genetics 1994;3(7):1155-61.
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1994: Percy A K; Glaze D G; Schultz R J; Zoghbi H Y; Williamson D; Frost J D; Jankovic J J; del Junco D; Skender M; Waring S
Rett syndrome: controlled study of an oral opiate antagonist, naltrexone.
Annals of neurology 1994;35(4):464-70.
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1994: van Slegtenhorst M A; Bassi M T; Borsani G; Wapenaar M C; Ferrero G B; de Conciliis L; Rugarli E I; Grillo A; Franco B; Zoghbi H Y
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.
Human molecular genetics 1994;3(4):547-52.
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1994: Lindsay E A; Grillo A; Ferrero G B; Roth E J; Magenis E; Grompe M; Hultén M; Gould C; Baldini A; Zoghbi H Y
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.
American journal of medical genetics 1994;49(2):229-34.
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1994: Durkin A S; Nierman W C; Zoghbi H; Jones C; Kozak C A; Maglott D R
Chromosome assignment of human brain expressed sequence tags (ESTs) by analyzing fluorescently labeled PCR products from hybrid cell panels.
Cytogenetics and cell genetics 1994;65(1-2):86-91.
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1993: Banfi S; Chung M Y; Kwiatkowski T J; Ranum L P; McCall A E; Chinault A C; Orr H T; Zoghbi H Y
Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb.
Genomics 1993;18(3):627-35.
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1993: Ellison K A; Roth E J; McCabe E R; Chinault A C; Zoghbi H Y
Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome.
American journal of medical genetics 1993;47(7):1124-34.
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1993: Durkin A S; Maglott D R; Vamvakopoulos N C; Zoghbi H Y; Nierman W C
Assignment of an intron-containing human heat-shock protein gene (hsp90 beta, HSPCB) to chromosome 6 near TCTE1 (6p21) and two intronless pseudogenes to chromosomes 4 and 15 by polymerase chain reaction amplification from a panel of hybrid cell lines.
Genomics 1993;18(2):452-4.
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1993: Chong S S; Kristjansson K; Zoghbi H Y; Hughes M R
Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23.
Genomics 1993;18(2):355-9.
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1993: Chung M Y; Ranum L P; Duvick L A; Servadio A; Zoghbi H Y; Orr H T
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.
Nature genetics 1993;5(3):254-8.
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1993: Friedmann M; Holth L T; Zoghbi H Y; Reeves R
Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene.
Nucleic acids research 1993;21(18):4259-67.
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1993: Wapenaar M C; Bassi M T; Schaefer L; Grillo A; Ferrero G B; Chinault A C; Ballabio A; Zoghbi H Y
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.
Human molecular genetics 1993;2(7):947-52.
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1993: Schaefer L; Ferrero G B; Grillo A; Bassi M T; Roth E J; Wapenaar M C; van Ommen G J; Mohandas T K; Rocchi M; Zoghbi H Y
A high resolution deletion map of human chromosome Xp22.
Nature genetics 1993;4(3):272-9.
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1993: Orr H T; Chung M Y; Banfi S; Kwiatkowski T J; Servadio A; Beaudet A L; McCall A E; Duvick L A; Ranum L P; Zoghbi H Y
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Nature genetics 1993;4(3):221-6.
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1993: Zoghbi H Y; Frontali M; Orr H T; Sandkuijl L; Cann H; Sasaki H; Chamberlain S; Terrenato L; Rich S S
Linkage studies in dominantly inherited ataxias.
Advances in neurology 1993;61():133-7.
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1992: Allen R C; Zoghbi H Y; Moseley A B; Rosenblatt H M; Belmont J W
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.
American journal of human genetics 1992;51(6):1229-39.
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1992: Eng C M; Durtschi B A; Zoghbi H Y; Beaudet A L
Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum.
Genomics 1992;14(3):813-5.
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1992: Gruen J R; Goei V L; Summers K M; Capossela A; Powell L; Halliday J; Zoghbi H; Shukla H; Weissman S M
Physical and genetic mapping of the telomeric major histocompatibility complex region in man and relevance to the primary hemochromatosis gene (HFE).
Genomics 1992;14(2):232-40.
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1992: Huang T H; Cottingham R W; Ledbetter D H; Zoghbi H Y
Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction.
Genomics 1992;13(2):375-80.
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1992: Banfi S; Ledbetter S A; Chinault A C; Zoghbi H Y
An easy and rapid method for the detection of chimeric yeast artificial chromosome clones.
Nucleic acids research 1992;20(7):1814.
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1992: Cutting G R; Curristin S; Zoghbi H; O'Hara B; Seldin M F; Uhl G R
Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4.
Genomics 1992;12(4):801-6.
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1992: Meese E U; Witkowski C M; Zoghbi H Y; Stanbridge E J; Meltzer P S; Trent J M
Development and utilization of a somatic cell hybrid mapping panel to assign NotI linking probes to the long arm of human chromosome 6.
Genomics 1992;12(3):542-8.
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1992: Ellison K A; Fill C P; Terwilliger J; DeGennaro L J; Martin-Gallardo A; Anvret M; Percy A K; Ott J; Zoghbi H
Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.
American journal of human genetics 1992;50(2):278-87.
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1991: Summers K M; Tam K S; Bartley P B; Drysdale J; Zoghbi H Y; Halliday J W; Powell L W
Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis.
Human genetics 1991;88(2):175-8.
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1991: Huang T H; Hejtmancik J F; Edwards A; Pettigrew A L; Herrera C A; Hammond H A; Caskey C T; Zoghbi H Y; Ledbetter D H
Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).
American journal of human genetics 1991;49(6):1312-9.
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1991: Le Borgne-Demarquoy F; Kwiatowski T J; Zoghbi H Y
Two dinucleotide repeat polymorphisms at the D6S202 locus.
Nucleic acids research 1991;19(21):6060.
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1991: Keats B J; Pollack M S; McCall A; Wilensky M A; Ward L J; Lu M; Zoghbi H Y
Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded.
American journal of human genetics 1991;49(5):972-7.
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1991: Ellison K A; Fill C P; Zoghbi H Y
MspI and MboI polymorphisms at the DXS704 locus.
Nucleic acids research 1991;19(18):5101.
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1991: Lupski J R; Garcia C A; Zoghbi H Y; Hoffman E P; Fenwick R G
Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.
American journal of medical genetics 1991;40(3):354-64.
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1991: Kwiatkowski T J; Beaudet A L; Trask B J; Zoghbi H Y
Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels.
Genomics 1991;10(4):921-6.
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1991: Zoghbi H Y; Jodice C; Sandkuijl L A; Kwiatkowski T J; McCall A E; Huntoon S A; Lulli P; Spadaro M; Litt M; Cann H M
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.
American journal of human genetics 1991;49(1):23-30.
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1991: Zoghbi H Y; McCall A E; LeBorgne-Demarquoy F
Sixty-five radiation hybrids for the short arm of human chromosome 6: their value as a mapping panel and as a source for rapid isolation of new probes using repeat element-mediated PCR.
Genomics 1991;9(4):713-20.
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1991: Blanché H; Zoghbi H Y; Jabs E W; de Gouyon B; Zunec R; Dausset J; Cann H M
A centromere-based genetic map of the short arm of human chromosome 6.
Genomics 1991;9(3):420-8.
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1991: Ranum L P; Chung M Y; Duvick L A; Zoghbi H Y; Orr H T
Dinucleotide repeat polymorphism at the D6S109 locus.
Nucleic acids research 1991;19(5):1171.
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1991: Weber J L; Kwitek A E; May P E; Zoghbi H Y
Dinucleotide repeat polymorphism at the D6S105 locus.
Nucleic acids research 1991;19(4):968.
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1991: Eng C M; Kozak C A; Beaudet A L; Zoghbi H Y
Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse.
Genomics 1991;9(2):278-82.
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1990: Kwiatkowski T J; Zoghbi H Y; Ledbetter S A; Ellison K A; Chinault A C
Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR.
Nucleic acids research 1990;18(23):7191-2.
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1990: Zoghbi H Y; McCall A E
TaqI polymorphism at the D6S91 locus.
Nucleic acids research 1990;18(19):5923.
-
1990: Zoghbi H Y; McCall A E
BclI and MspI polymorphisms at the D6S90 locus.
Nucleic acids research 1990;18(19):5922.
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1990: Zoghbi H Y; Ballantyne C M; O'Brien W E; McCall A E; Kwiatkowski T J; Ledbetter S A; Beaudet A L
Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6.
Genomics 1990;6(2):352-7.
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1990: Zoghbi H Y; Ledbetter D H; Schultz R; Percy A K; Glaze D G
A de novo X;3 translocation in Rett syndrome.
American journal of medical genetics 1990;35(1):148-51.
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1990: Zoghbi H Y; Percy A K; Schultz R J; Fill C
Patterns of X chromosome inactivation in the Rett syndrome.
Brain & development 1990;12(1):131-5.
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1989: Bibbins K B; Tsai J Y; Schimenti J; Sarvetnick N; Zoghbi H Y; Goodfellow P; Silver L M
Human homologs of two testes-expressed loci on mouse chromosome 17 map to opposite arms of chromosome 6.
Genomics 1989;5(1):139-43.
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1989: Zoghbi H Y; Sandkuyl L A; Ott J; Daiger S P; Pollack M; O'Brien W E; Beaudet A L
Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis.
American journal of human genetics 1989;44(2):255-63.
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1989: Zoghbi H Y; Milstien S; Butler I J; Smith E O; Kaufman S; Glaze D G; Percy A K
Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome.
Annals of neurology 1989;25(1):56-60.
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1988: Zoghbi H Y; O'Brien W E; Ledley F D
Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.
Genomics 1988;3(4):396-8.
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1988: Zoghbi H Y; Pollack M S; Lyons L A; Ferrell R E; Daiger S P; Beaudet A L
Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.
Annals of neurology 1988;23(6):580-4.
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1988: Zoghbi H Y; Daiger S P; McCall A; O'Brien W E; Beaudet A L
Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA.
American journal of human genetics 1988;42(6):877-83.
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1988: Ledley F D; Lumetta M R; Zoghbi H Y; VanTuinen P; Ledbetter S A; Ledbetter D H
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
American journal of human genetics 1988;42(6):839-46.
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1988: Ballantyne C M; Zoghbi H Y; Grzeschik K H; O'Brien W E; Beaudet A L
A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q.
Nucleic acids research 1988;16(4):1650.
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1988: Percy A K; Zoghbi H Y; Lewis K R; Jankovic J
Rett syndrome: qualitative and quantitative differentiation from autism.
Journal of child neurology 1988;3 Suppl():S65-7.
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1988: Zoghbi H
Genetic aspects of Rett syndrome.
Journal of child neurology 1988;3 Suppl():S76-8.
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1988: Jellinger K; Armstrong D; Zoghbi H Y; Percy A K
Neuropathology of Rett syndrome.
Acta neuropathologica 1988;76(2):142-58.
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1987: Glaze D G; Frost J D; Zoghbi H Y; Percy A K
Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging.
Archives of neurology 1987;44(10):1053-6.
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1987: Glaze D G; Frost J D; Zoghbi H Y; Percy A K
Rett's syndrome: characterization of respiratory patterns and sleep.
Annals of neurology 1987;21(4):377-82.
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1987: Percy A K; Zoghbi H Y; Glaze D G
Rett syndrome: discrimination of typical and variant forms.
Brain & development 1987;9(5):458-61.
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1986: Zoghbi H Y; Spence J E; Beaudet A L; O'Brien W E; Goodman C J; Gibson K M
Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Annals of neurology 1986;20(3):367-9.
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1985: Zoghbi H Y; Okumura S; Laurent J P; Fishman M A
Acute effect of glycerol on net cerebrospinal fluid production in dogs.
Journal of neurosurgery 1985;63(5):759-62.
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1985: Zoghbi H Y; Percy A K; Glaze D G; Butler I J; Riccardi V M
Reduction of biogenic amine levels in the Rett syndrome.
The New England journal of medicine 1985;313(15):921-4.
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1985: Percy A K; Zoghbi H; Riccardi V M
Rett syndrome: initial experience with an emerging clinical entity.
Brain & development 1985;7(3):300-4.
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