Works matching Alexander disease

Results: 390

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

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

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

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

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

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

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

Alexander's disease and the story of Louise.

Published in:

2018

By:

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

Publication type:

journal 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

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

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

Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.

Published in:

2017

By:

So-Hyun Lee;
Tai-Seung Nam;
Kun-Hee Kim;
Jin Hee Kim;
Woong Yoon;
Suk-Hee Heo;
Min Jung Kim;
Boo Ahn Shin;
Ming-Der Perng;
Choy, Hyon E.;
Jihoon Jo;
Myeong-Kyu Kim;
Seok-Yong Choi;
Lee, So-Hyun;
Nam, Tai-Seung;
Kim, Kun-Hee;
Kim, Jin Hee;
Yoon, Woong;
Heo, Suk-Hee;
Kim, Min Jung

Publication type:

journal 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

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

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.

Published in:

2018

By:

Pinto e Vairo, Filippo;
Bertsch, Nicole;
Klee, Eric W.;
Gavrilova, Ralitza H.

Publication type:

Letter to the Editor

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

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

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

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

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

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

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

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

The first Korean case of adult-onset Alexander disease.

Published in:

2014

By:

Yu Jin Jung;
Jeon, Beom S.

Publication type:

Case Study

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

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

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

Poster 242: A Case Report of Adult Onset Alexander's Disease in an Acute Inpatient Rehabilitation Setting: A Case Report.

Published in:

2010

By:

Marcial, Jorge A.;
Lee, Raymond

Publication type:

Abstract

Clinical and gene mutation analysis on Alexander's disease type II caused by a novel GFAP mutation.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 3, p. 199, doi. 10.3969/j.issn.1672-6731.2019.03.010

By:

SUN Yun-chuang;
HUANG Yi-ning;
ZHU Hui;
JIN Hai-qiang;
LI Fan;
WANG Zhao-xia

Publication type:

Article

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 4, p. 462, doi. 10.1038/sj.ejhg.5201995

By:

Bachetti, Tiziana;
Caroli, Francesco;
Bocca, Paola;
Prigione, Ignazia;
Balbi, Pietro;
Biancheri, Roberta;
Filocamo, Mirella;
Mariotti, Caterina;
Pareyson, Davide;
Ravazzolo, Roberto;
Ceccherini, Isabella

Publication type:

Article

A Novel GFAP Mutation and Disseminated White Matter Lesions: Adult Alexander Disease?

Published in:

European Neurology, 2003, v. 50, n. 2, p. 100, doi. 10.1159/000072507

By:

Brockmann, Knut;
Meins, Moritz;
Taubert, Angelika;
Trappe, Ralf;
Grond, Martin;
Hanefeld, Folker

Publication type:

Article

Alexander's disease in infancy and childhood: a report of two cases.

Published in:

Acta Neuropathologica, 1992, v. 84, n. 3, p. 322, doi. 10.1007/BF00227826

By:

Neal, J.;
Cave, E.;
Singhrao, S.;
Cole, G.;
Wallace, S.

Publication type:

Article

Adult‐onset Alexander disease with unusual inflammatory features and a novel GFAP mutation in two patients.

Published in:

Neuropathology & Applied Neurobiology, 2023, v. 49, n. 4, p. 1, doi. 10.1111/nan.12927

By:

Ziad, Fouzia;
Cypers, Gert;
Phillips, Matthew;
Vanhoenacker, Piet;
Hostens, Arne;
Yadavraj, Satish;
Lamont, Duncan;
Robertson, Thomas

Publication type:

Article

Alexander's disease: reassessment of a neonatal form.

Published in:

Child's Nervous System, 2012, v. 28, n. 12, p. 2029, doi. 10.1007/s00381-012-1868-8

By:

Singh, Navneet;
Bixby, Catherine;
Etienne, Denzil;
Tubbs, R.;
Loukas, Marios

Publication type:

Article

Neurocognitive Decline in Alexander Disease.

Published in:

Clinical Neuropsychologist, 2011, v. 25, n. 7, p. 1266, doi. 10.1080/13854046.2011.604043

By:

Restrepo, June;
Bernardin, Linda;
Hammeke, Thomas

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

A retrospective observational cohort study of the anesthetic management and outcomes of pediatric patients with Alexander disease undergoing lumbar puncture or magnetic resonance imaging.

Published in:

Pediatric Anesthesia, 2024, v. 34, n. 8, p. 810, doi. 10.1111/pan.14937

By:

Berger, Jessica A.;
Simpao, Allan F.;
Dubow, Scott R.;
McClung, Heather A.;
Liu, Geraldine W.;
Waldman, Amy T.;
Drum, Elizabeth T.

Publication type:

Article

Psychiatric Onset Alexander Disease: An Important Challenge in Neuropsychiatric Diagnosis: A Case Report.

Published in:

Basic & Clinical Neuroscience, 2022, v. 13, n. 2, p. 269, doi. 10.32598/bcn.2021.1551.1

By:

Arshiany, Hedieh;
Ezzatian, Behzad;
Artounian, Valentin;
Alizadeh, Fatemeh;
Mohammadian, Fatemeh

Publication type:

Article

External Laryngeal Tremor in Adult-Onset Alexander Disease: A Case Report.

Published in:

2024

By:

Gazulla, José;
Rodríguez-Valle, Ana;
Calatayud-Lallana, Leonor María;
Berciano, José

Publication type:

Case Study

Ser-59 is the major phosphorylation site in αB-crystallin accumulated in the brains of patients with Alexander's disease.

Published in:

Journal of Neurochemistry, 2001, v. 76, n. 3, p. 730, doi. 10.1046/j.1471-4159.2001.00038.x

By:

Kato, K.;
Inaguma, Y.;
Ito, H.;
Iida, K.;
Iwamoto, I.;
Kamei, K.;
Ochi, N.;
Ohta, H.;
Kishikawa, M.

Publication type:

Article

Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl.

Published in:

2009

By:

Niinikoski, Harri;
Haataja, Leena;
Brander, Antti;
Valanne, Leena;
Blaser, Susan

Publication type:

Report

Infantile-Onset Alexander Disease: A Genetically Proven Case With Mild Clinical Course in a 6-Year-Old Indian Boy.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 3, p. 396, doi. 10.1177/0883073812444313

By:

Ramesh, Konanki;
Sharma, Suvasini;
Kumar, Atin;
Salomons, Gajja S.;
van der Knaap, Marjo S.;
Gulati, Sheffali

Publication type:

Article

A case report of adult-onset Alexander disease clinically presenting as Parkinson's disease: is the comorbidity associated with genetic susceptibility?

Published in:

2020

By:

Park, Jongkyu;
Park, Sung-Tae;
Kim, Jieun;
Kwon, Kyum-Yil

Publication type:

journal article

Fetal-onset Alexander disease with radiological-neuropathological correlation.

Published in:

Pediatric Radiology, 2023, v. 53, n. 10, p. 2149, doi. 10.1007/s00247-023-05710-w

By:

Devos, Johannes;
Devriendt, Koenraad;
Richter, Jute;
Jansen, Katrien;
Baldewijns, Marcella;
Thal, Dietmar R.;
Aertsen, Michael

Publication type:

Article