Works matching DE "ALEXANDER disease"

Results: 54

Autonomic dysfunction in adult-onset alexander disease: A case report and review of the literature.

Published in:

Clinical Autonomic Research, 2013, v. 23, n. 6, p. 333, doi. 10.1007/s10286-013-0205-y

By:

Spritzer, Scott D.;
Zarkou, Srijana;
Ireland, Stephen P.;
Carter, Jonathon L.;
Goodman, Brent P.

Publication type:

Article

Erratum.

Published in:: 2017
Publication type:: Correction Notice

Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease.

Published in:

European Neurology, 2017, v. 77, n. 5/6, p. 296, doi. 10.1159/000475661

By:

Yoshida, Tomokatsu;
Yasuda, Rei;
Mizuta, Ikuko;
Nakagawa, Masanori;
Mizuno, Toshiki

Publication type:

Article

Alexander disease: an astrocytopathy that produces a leukodystrophy.

Published in:

Brain Pathology, 2018, v. 28, n. 3, p. 388, doi. 10.1111/bpa.12601

By:

Sosunov, Alexander;
Olabarria, Markel;
Goldman, James E.

Publication type:

Article

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Published in:

Clinical Case Reports, 2016, v. 4, n. 9, p. 885, doi. 10.1002/ccr3.655

By:

Boczek, Nicole J.;
Sigafoos, Ashley N.;
Zimmermann, Michael T.;
Maus, Rachel L.;
Cousin, Margot A.;
Blackburn, Patrick R.;
Urrutia, Raul;
Clark, Karl J.;
Patterson, Marc C.;
Wick, Myra J.;
Klee, Eric W.

Publication type:

Article

New Roles for Fc receptors in neurodegeneration-The impact on Immunotherapy for Alzheimer's Disease.

Published in:

Frontiers in Neuroscience, 2014, p. 1, doi. 10.3389/fnins.2014.00235

By:

Fuller, James;
Stavenhagen, Jeff;
Teeling, Jessica L.

Publication type:

Article

Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 4, p. 183, doi. 10.1038/jhg.2012.152

By:

Zang, Lili;
Wang, Jingmin;
Jiang, Yuwu;
Gu, Qiang;
Gao, Zhijie;
Yang, Yanling;
Xiao, Jiangxi;
Wu, Ye

Publication type:

Article

Infantile Onset Alexander Disease with Normal Head Circumference: A Genetically Proven Case Report.

Published in:

Journal of Clinical & Diagnostic Research, 2014, v. 8, n. 11, p. 3, doi. 10.7860/JCDR/2014/10211.5200

By:

GOYAL, MANISHA;
MEHNDIRATTA, SUMIT;
FARUQ, MOHAMMED;
DWIVEDI, MANISH KUMAR;
KAPOOR, SEEMA

Publication type:

Article

Anterior chamber fibrinoid syndrome after cataract extraction in a patient on ibrutinib for B-cell chronic lymphocytic leukemia: a case report and review of the literature.

Published in:

2018

By:

Kolomeyer, Anton M.;
Hwang, Christopher K.;
Kim, Benjamin J.

Publication type:

journal article

Cell‐autonomous astrocytopathy in Alzheimer's disease.

Published in:

2018

By:

Verkhratsky, A.;
Rodríguez, J. J.

Publication type:

Editorial

Endocannabinoid-Specific Impairment in Synaptic Plasticity in Striatum of Huntington's Disease Mouse Model.

Published in:

Journal of Neuroscience, 2018, v. 38, n. 3, p. 544, doi. 10.1523/JNEUROSCI.1739-17.2017

By:

Sepers, Marja D.;
Smith-Dijak, Amy;
LeDue, Jeff;
Kolodziejczyk, Karolina;
Mackie, Ken;
Raymond, Lynn A.

Publication type:

Article

An In Vivo Pharmacological Screen Identifies Cholinergic Signaling as a Therapeutic Target in Glial-Based Nervous System Disease.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 5, p. 1445, doi. 10.1523/JNEUROSCI.0256-15.2016

By:

Liqun Wang;
Hagemann, Tracy L.;
Messing, Albee;
Feany, Mel B.

Publication type:

Article

Issue Information ‐ TOC.

Published in:: 2018
Publication type:: Table of Contents

Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease.

Published in:

2018

By:

Hagemann, Tracy L.;
Powers, Berit;
Mazur, Curt;
Kim, Aneeza;
Wheeler, Steven;
Hung, Gene;
Swayze, Eric;
Messing, Albee

Publication type:

journal article

Atypical MRI features in familial adult onset Alexander disease: case report.

Published in:

2016

By:

Yonghong Liu;
Heng Zhou;
Huabing Wang;
Xiaoqing Gong;
Zhou, Anna;
Lin Zhao;
Xindi Li;
Xinghu Zhang

Publication type:

Case Study

Long-term follow-up of a case of adult-onset Alexander disease presenting with cognitive impairment as the initial symptom.

Published in:

2017

By:

Yoshinari Kawai;
Makoto Hattori;
Keiko Mori;
Toshiaki Ieda

Publication type:

Case Study

Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease.

Published in:

APMIS, 2014, v. 122, n. 1, p. 76, doi. 10.1111/apm.12088

By:

Pekny, Tulen;
Faiz, Maryam;
Wilhelmsson, Ulrika;
Curtis, Maurice A.;
Matej, Radoslav;
Skalli, Omar;
Pekny, Milos

Publication type:

Article

Glial fibrillary acidic protein: The component of iintermediate filaments in the vertebrate brain astrocytes.

Published in:

Journal of Evolutionary Biochemistry & Physiology, 2015, v. 51, n. 1, p. 1, doi. 10.1134/S0022093015010019

By:

Sukhorukova, E.;
Korzhevskii, D.;
Alekseeva, O.

Publication type:

Article

The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease.

Published in:

Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0425-9

By:

Sosunov, Alexander A.;
McKhann II, Guy M.;
Goldman, James E.

Publication type:

Article

Erratum to: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.

Published in:

2016

By:

Takayuki Kondo;
Misato Funayama;
Michiyo Miyake;
Kayoko Tsukita;
Takumi Era;
Hitoshi Osaka;
Takashi Ayaki;
Ryosuke Takahashi;
Haruhisa Inoue

Publication type:

Correction Notice

Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.

Published in:

Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0337-0

By:

Takayuki Kondo;
Misato Funayama;
Michiyo Miyake;
Kayoko Tsukita;
Takumi Era;
Hitoshi Osaka;
Takashi Ayaki;
Ryosuke Takahashi;
Haruhisa Inoue

Publication type:

Article

Alexander's disease and the story of Louise.

Published in:

2018

By:

Wilson, Barbara A.;
Vargha-Khadem, Faraneh;
Florschutz, Gerhard

Publication type:

journal article

Characterization of a panel of monoclonal antibodies recognizing specific epitopes on GFAP.

Published in:

PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0180694

By:

Lin, Ni-Hsuan;
Messing, Albee;
Perng, Ming-Der

Publication type:

Article

Alexander Disease Mutations Produce Cells with Coexpression of Glial Fibrillary Acidic Protein and NG2 in Neurosphere Cultures and Inhibit Differentiation into Mature Oligodendrocytes.

Published in:

Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00255

By:

Gómez-Pinedo, Ulises;
Sirerol-Piquer, Maria Salomé;
Durán-Moreno, María;
García-Verdugo, José Manuel;
Matias-Guiu, Jorge

Publication type:

Article

Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 72, doi. 10.1038/ejhg.2014.68

By:

Nam, Tai-Seung;
Kim, Jin Hee;
Chang, Chi-Hsuan;
Yoon, Woong;
Jung, Yoon Seok;
Kang, Sa-Yoon;
Shin, Boo Ahn;
Perng, Ming-Der;
Choi, Seok-Yong;
Kim, Myeong-Kyu

Publication type:

Article

A new mutation in GFAP widens the spectrum of Alexander disease.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 1, doi. 10.1038/ejhg.2014.99

By:

Brenner, Michael;
Messing, Albee

Publication type:

Article

Reduced cerebrospinal fluid monoamines in Alexander's disease: a clue to a symptomatic therapy.

Published in:

2018

By:

Casarejos, M. J.;
Bazán, E.;
Braun, J.;
Lorenzo‐Sanz, G.;
Belanger, A.;
Perez‐Torres, P.;
Jimenez‐Escrig, A.;
Mateo‐Montero, R.;
Villadoniga, M.;
López‐Viñas, L.

Publication type:

Letter to the Editor

PET neuroimaging reveals histone deacetylase dysregulation in schizophrenia.

Published in:

2019

By:

Gilbert, Tonya M.;
Zürcher, Nicole R.;
Wu, Christine J.;
Bhanot, Anisha;
Hightower, Baileigh G.;
Kim, Minhae;
Albrecht, Daniel S.;
Hsiao-Ying Wey;
Schroeder, Frederick A.;
Rodriguez-Thompson, Anais;
Morin, Thomas M.;
Hart, Kamber L.;
Pellegrini, Amelia M.;
Riley, Misha M.;
Changning Wang;
Stufflebeam, Steven M.;
Haggarty, Stephen J.;
Holt, Daphne J.;
Loggia, Marco L.;
Perlis, Roy H.

Publication type:

journal article

Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy.

Published in:

Molecular Therapy, 2015, v. 23, n. 9, p. 1519, doi. 10.1038/mt.2015.106

By:

Doerr, Jonas;
Böckenhoff, Annika;
Ewald, Benjamin;
Ladewig, Julia;
Eckhardt, Matthias;
Gieselmann, Volkmar;
Matzner, Ulrich;
Brüstle, Oliver;
Koch, Philipp

Publication type:

Article

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.

Published in:

Neurological Sciences, 2015, v. 36, n. 2, p. 323, doi. 10.1007/s10072-014-1944-9

By:

DiFrancesco, Jacopo;
Novara, Francesca;
Zuffardi, Orsetta;
Forlino, Antonella;
Gioia, Roberta;
Cossu, Federica;
Bolognesi, Martino;
Andreoni, Simona;
Saracchi, Enrico;
Frigeni, Barbara;
Stellato, Tiziana;
Tolnay, Markus;
Winkler, David;
Remida, Paolo;
Isimbaldi, Giuseppe;
Ferrarese, Carlo

Publication type:

Article

A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.

Published in:

Neurological Sciences, 2012, v. 33, n. 6, p. 1389, doi. 10.1007/s10072-011-0902-z

By:

Namekawa, Michito;
Takiyama, Yoshihisa;
Honda, Junko;
Sakoe, Kumi;
Naoi, Tametou;
Shimazaki, Haruo;
Yamagata, Takanori;
Momoi, Mariko;
Nakano, Imaharu

Publication type:

Article

Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl<sup>−</sup> channel function and trafficking.

Published in:

Journal of Physiology, 2017, v. 595, n. 22, p. 6993, doi. 10.1113/JP275087

By:

Gaitán‐Peñas, Héctor;
Apaja, Pirjo M;
Arnedo, Tanit;
Castellanos, Aida;
Elorza‐Vidal, Xabier;
Soto, David;
Gasull, Xavier;
Lukacs, Gergely L;
Estévez, Raúl

Publication type:

Article

The first Korean case of adult-onset Alexander disease.

Published in:

2014

By:

Yu Jin Jung;
Jeon, Beom S.

Publication type:

Case Study

Alexander Disease.

Published in:

Journal of Child Neurology, 2017, v. 32, n. 2, p. 184, doi. 10.1177/0883073816673263

By:

Tavasoli, Ali;
Armangue, Thais;
Ho, Cheng-Ying;
Whitehead, Matthew;
Bornhorst, Miriam;
Rhee, Jullie;
Hwang, Eugene I.;
Wells, Elizabeth M.;
Packer, Roger;
van der Knaap, Marjo S.;
Bugiani, Marianna;
Vanderver, Adeline

Publication type:

Article

Alexander Disease.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 7, p. 869, doi. 10.1177/0883073815624762

By:

Bonthius, Daniel J.;
Karacay, Bahri

Publication type:

Article

Young Scientist Lectures.

Published in:: Journal of Neurochemistry, 2017, v. 142, p. 11, doi. 10.1111/jnc.14088
Publication type:: Article

Change in the incidence of Parkinson's disease in a large UK primary care database.

Published in:

NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00284-0

By:

Okunoye, Olaitan;
Marston, Louise;
Walters, Kate;
Schrag, Anette

Publication type:

Article

Lithium Decreases Glial Fibrillary Acidic Protein in a Mouse Model of Alexander Disease.

Published in:

PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138132

By:

LaPash Daniels, Christine M.;
Paffenroth, Elizabeth;
Austin, Elizabeth V.;
Glebov, Konstantin;
Lewis, Diana;
Walter, Jochen;
Messing, Albee

Publication type:

Article

Towards genomic database of Alexander disease to identify variations modifying disease phenotype.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51390-8

By:

Yasuda, Rei;
Nakano, Masakazu;
Yoshida, Tomokatsu;
Sato, Ryuichi;
Adachi, Hiroko;
Tokuda, Yuichi;
Mizuta, Ikuko;
Saito, Kozo;
Matsuura, Jun;
Nakagawa, Masanori;
Tashiro, Kei;
Mizuno, Toshiki

Publication type:

Article

Aberrant Calcium Signals in Reactive Astrocytes: A Key Process in Neurological Disorders.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 4, p. 996, doi. 10.3390/ijms20040996

By:

Shigetomi, Eiji;
Saito, Kozo;
Sano, Fumikazu;
Koizumi, Schuichi

Publication type:

Article

Topical Administration of Bosentan Prevents Retinal Neurodegeneration in Experimental Diabetes.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3578, doi. 10.3390/ijms19113578

By:

Bogdanov, Patricia;
Simó-Servat, Olga;
Sampedro, Joel;
Solà-Adell, Cristina;
Garcia-Ramírez, Marta;
Ramos, Hugo;
Guerrero, Marta;
Suñé-Negre, Josep Maria;
Ticó, Josep Ramon;
Montoro, Bruno;
Durán, Vicente;
Arias, Luís;
Hernández, Cristina;
Simó, Rafael

Publication type:

Article

Optimized Clump Culture Methods for Adult Human Multipotent Neural Cells.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3380, doi. 10.3390/ijms19113380

By:

Yeon, Je Young;
Hwang, Ji-Yoon;
Lee, Hye Won;
Pyeon, Hee-Jang;
Won, Jeong-Seob;
Noh, Yoo-Jung;
Nam, Hyun;
Joo, Kyeung Min

Publication type:

Article

Reactive Oxygen Species-Mediated Damage of Retinal Neurons: Drug Development Targets for Therapies of Chronic Neurodegeneration of the Retina.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3362, doi. 10.3390/ijms19113362

By:

Rohowetz, Landon J.;
Kraus, Jacob G.;
Koulen, Peter

Publication type:

Article

Type 2 Alexander disease with a novel glial fibrillary acidic protein gene mutation and its unique clinical features.

Published in:

Neurology & Clinical Neuroscience, 2017, v. 5, n. 6, p. 183, doi. 10.1111/ncn3.12146

By:

Kawahara, Yuko;
Yamashita, Toru;
Ohta, Yasuyuki;
Sato, Kota;
Nomura, Emi;
Takemoto, Mami;
Hishikawa, Nozomi;
Shang, Jingwei;
Yoshida, Tomokatsu;
Abe, Koji

Publication type:

Article

Familial Adult-Onset Alexander Disease with a Novel GFAP Mutation.

Published in:

Movement Disorders Clinical Practice, 2016, v. 3, n. 3, p. 300, doi. 10.1002/mdc3.12296

By:

Ogura, Hana;
Maki, Futaba;
Sasaki, Naoshi;
Yoshida, Tomokatsu;
Hasegawa, Yasuhiro

Publication type:

Article

Alexander disease in a dog: case presentation of electrodiagnostic, magnetic resonance imaging and histopathologic findings with review of literature.

Published in:

BMC Veterinary Research, 2015, v. 11, n. 1, p. 1, doi. 10.1186/s12917-015-0393-x

By:

Wrzosek, Marcin;
Giza, Elżbieta;
Płonek, Marta;
Podgórski, Przemysław;
Vandevelde, Marc

Publication type:

Article

A novel GFAP mutation in a type II (late-onset) Alexander disease patient.

Published in:

2016

By:

Paiva, Anderson;
Freua, Fernando;
Lucato, Leandro;
Parmera, Jacy;
Dória, Denise;
Nóbrega, Paulo;
Olávio, Thiago;
Macedo-Souza, Lúcia;
Kok, Fernando

Publication type:

Letter

Astrocyte pathology in Alexander disease causes a marked inflammatory environment.

Published in:

Acta Neuropathologica, 2015, v. 130, n. 4, p. 469, doi. 10.1007/s00401-015-1469-1

By:

Olabarria, Markel;
Putilina, Maria;
Goldman, James;
Riemer, Ellen

Publication type:

Article

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.

Published in:

2016

By:

Tonduti, Davide;
Ardissone, Anna;
Ceccherini, Isabella;
Giaccone, Giorgio;
Farina, Laura;
Moroni, Isabella

Publication type:

journal article

Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene.

Published in:

2016

By:

Giovanni, M.;
Poggiani, A.;
Bianchi, S.;
Rosini, F.;
Rufa, A.;
Federico, A.;
Di Giovanni, M

Publication type:

Case Study