Works matching Canavan disease

Results: 191

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

Published in:

2016

By:

Merrill, Steven T.;
Nelson, Gary R.;
Longo, Nicola;
Bonkowsky, Joshua L.

Publication type:

Case Study

FROM GENOTYPE TO PHENOTYPE: UNDERSTANDING THE ROLE OF THE ASPA GENE IN CANAVAN DISEASE.

Published in:

Genetics & Applications, 2023, p. 54

By:

Lejla, Delalić;
Emina, Džidić;
Merima, Kljajić;
Belma, Mutapčić

Publication type:

Article

Makrosefali ayırıcı tanısında Canavan hastalığı: Olgu sunumu.

Published in:

Journal of Dr. Behcet Uz Children's Hospital, 2012, v. 2, n. 2, p. 107, doi. 10.5222/buchd.2012.107

By:

BAYRAM, Erhan;
TOPCU, Yasemin;
KARAKAYA, Pakize;
YIŞ, Uluç;
ÇAKMAKÇI, Handan;
HIZ KURUL, Semra

Publication type:

Article

A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report.

Published in:

Journal of Pediatric Research, 2024, v. 11, n. 4, p. 1, doi. 10.4274/jpr.galenos.2024.55706

By:

Kariyappa, Archana Vaddinahalli;
Lakshminarayana, Shilpa Krishnapura;
Kumble, Dhanalakshmi;
Siddappa, Kavitha;
Yelsangikar, Kalpana Ramesh;
Kariyappa, Mallesh;
Lakshmi, Thotakura Pranga;
Dalal, Ashwin

Publication type:

Article

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

Published in:

Molecular Biology Reports, 2012, v. 39, n. 5, p. 6197, doi. 10.1007/s11033-011-1438-2

By:

Hussain, Rashida;
Daud, Shakeela;
Kakar, Naseebullah;
Ahmad, Adeel;
Baloch, Abdul;
Tareen, Abdul;
Kakar, Muhammad;
Ahmad, Jamil

Publication type:

Article

Primary Intracranial Atypical Teratoid/Rhabdoid Tumor in a Child with Canavan Disease.

Published in:

Pediatric Neurosurgery, 1995, v. 22, n. 4, p. 214, doi. 10.1159/000120904

By:

Manhoff, Dion T.;
Rorke, Lucy B.;
Yachnis, Anthony T.

Publication type:

Article

Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.

Published in:

Molecular Syndromology, 2024, v. 15, n. 4, p. 284, doi. 10.1159/000536386

By:

Yalcintepe, Sinem;
Maras, Tuba;
Kizilyar, Ilke;
Sezginer Guler, Hazal;
Zhuri, Drenushe;
Atli, Engin;
Ozen, Yasemin;
Gurkan, Hakan

Publication type:

Article

Dual-function AAV gene therapy reverses late-stage Canavan disease pathology in mice.

Published in:

Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.1061257

By:

Fröhlich, Dominik;
Kalotay, Elizabeth;
von Jonquieres, Georg;
Bongers, Andre;
Lee, Brendan;
Suchowerska, Alexandra K.;
Housley, Gary D.;
Klugmann, Matthias

Publication type:

Article

Ocular Findings in Canavan Disease.

Published in:

Optometry & Vision Development, 2007, v. 38, n. 3, p. 125

By:

Koslowe, Kenneth;
Bergwerk, Katherine;
Uri, Uri Yinon;
Merrick, Joav

Publication type:

Article

Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.

Published in:

Acta Neuropathologica, 2018, v. 135, n. 1, p. 95, doi. 10.1007/s00401-017-1784-9

By:

von Jonquieres, Georg;
Spencer, Ziggy H. T.;
Rowlands, Benjamin D.;
Klugmann, Claudia B.;
Bongers, Andre;
Harasta, Anne E.;
Parley, Kristina E.;
Cederholm, Jennie;
Teahan, Orla;
Pickford, Russell;
Delerue, Fabien;
Ittner, Lars M.;
Fröhlich, Dominik;
McLean, Catriona A.;
Don, Anthony S.;
Schneider, Miriam;
Housley, Gary D.;
Rae, Caroline D.;
Klugmann, Matthias

Publication type:

Article

A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists?

Published in:

Journal of Intellectual Disability Research, 2013, v. 57, n. 9, p. 815, doi. 10.1111/j.1365-2788.2012.01576.x

By:

Glicksman, S.;
Borgen, C.;
Blackstein, M.;
Gordon, A.;
Hanon, I.;
Kusin, D.;
Leibowitz, B.;
Halle, J.

Publication type:

Article

The Clinical Features and Diagnosis of Canavan's Disease: A Case Series of Iranian Patients.

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 66

By:

NEMATI, Hamid;
NASEHI, Mohamad Mehdi;
NEJAD BIGLARI, Habibe;
KARIMZADEH, Parvaneh;
GHOFRANI, Mohammad;
AHMADABADI, Farzad;
MOLLAMOHAMMADI, Mohsen;
JAFARI, Narjes;
RAHIMIAN, Elham

Publication type:

Article

Canavan disease - unusual imaging features in a child with mild clinical presentation.

Published in:

Pediatric Radiology, 2015, v. 45, n. 3, p. 457, doi. 10.1007/s00247-014-3116-8

By:

Nguyen, Ho;
Ishak, Gisele

Publication type:

Article

Preimplantation Genetic Diagnosis of Canavan Disease.

Published in:

Fetal Diagnosis & Therapy, 2005, v. 20, n. 5, p. 465, doi. 10.1159/000086834

By:

Yaron, Yuval;
Schwartz, Tamar;
Mey-Raz, Nava;
Amit, Ami;
Lessing, Joseph B.;
Malcov, Mira

Publication type:

Article

Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair.

Published in:

Frontiers in Cellular Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fncel.2021.661928

By:

Lotun, Anoushka;
Gessler, Dominic J.;
Gao, Guangping

Publication type:

Article

Canavan Hastalığı MRG ve MRS Bulguları: 3 Ayrı Olgu.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2013, v. 7, n. 4, p. 201, doi. 10.12956/tjpd.2013.31

By:

AKMAZ ÜNLÜ, Havva;
ALTINBAŞ, Namık Kemal;
TEBER, Serap;
DERİNKUYU, Betül Emine;
ÜNLÜ, Süleyman Ersin;
GÜLEROĞLU, Nadide Başak;
DEĞERLİYURT, Aydan

Publication type:

Article

Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.

Published in:

Annals of Indian Academy of Neurology, 2021, v. 24, n. 3, p. 347, doi. 10.4103/aian.AIAN_386_20

By:

Gowda, Vykuntaraju K.;
Bharathi, Narmadham K.;
Bettaiah, Jamunashree;
Bhat, Maya;
Shivappa, Sanjay K.

Publication type:

Article

N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 43, p. 14501, doi. 10.1523/JNEUROSCI.1056-15.2015

By:

Maier, Helena;
Wang-Eckhardt, Lihua;
Hartmann, Dieter;
Gieselmann, Volkmar;
Eckhardt, Matthias

Publication type:

Article

The natural history of Canavan disease: 23 new cases and comparison with patients from literature.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-020-01659-3

By:

Bley, Annette;
Denecke, Jonas;
Kohlschütter, Alfried;
Schön, Gerhard;
Hischke, Sandra;
Guder, Philipp;
Bierhals, Tatjana;
Lau, Heather;
Hempel, Maja;
Eichler, Florian S.

Publication type:

Article

The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility.

Published in:

Neuroradiology, 2024, v. 66, n. 10, p. 1829, doi. 10.1007/s00234-024-03388-x

By:

Rahimian, Elham;
D'Arco, Felice;
Sudhakar, Sniya;
Tahsini, Majid. R.;
Azin, Neda;
Morovvati, Mahdis;
Karimzadeh, Parvaneh;
Farahvash, Mohammad Aidin

Publication type:

Article

Investigation of the motor system in two siblings with Canavan's disease: a combined transcranial magnetic stimulation (TMS) - diffusion tensor imaging (DTI) study.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 2, p. 307, doi. 10.1007/s11011-017-9955-x

By:

Kimiskidis, V.;
Papaliagkas, Vasileios;
Papagiannopoulos, S.;
Zafeiriou, D.;
Kazis, D.;
Tsatsali-Foroglou, E.;
Kouvatsou, Z.;
Kapina, V.;
Koutsonikolas, D.;
Anogianakis, G.;
Geroukis, T.;
Bostantjopoulou, S.

Publication type:

Article

Two patients with Canavan disease and structural modeling of a novel mutation.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 1, p. 171, doi. 10.1007/s11011-016-9896-9

By:

Zaki, Osama;
Krishnamoorthy, Navaneethakrishnan;
El Abd, Heba;
Harche, Soumaya;
Mattar, Reem;
Al disi, Rana;
Nofal, Mariam;
El Bekay, Rajaa;
Ahmed, Khalid;
George Priya Doss, C;
Zayed, Hatem

Publication type:

Article

Novel mutation in an Egyptian patient with infantile Canavan disease.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 3, p. 573, doi. 10.1007/s11011-015-9772-z

By:

Zaki, Osama;
Abd, Heba;
Mohamed, Shaimaa;
Zayed, Hatem

Publication type:

Article

Atypical clinical and radiological course of a patient with Canavan disease.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 2, p. 475, doi. 10.1007/s11011-015-9767-9

By:

Sarret, Catherine;
Boespflug-Tanguy, Odile;
Rodriguez, Diana

Publication type:

Article

Are Astrocytes the Missing Link Between Lack of Brain Aspartoacylase Activity and the Spongiform Leukodystrophy in Canavan Disease?

Published in:

Neurochemical Research, 2009, v. 34, n. 9, p. 1523, doi. 10.1007/s11064-009-9958-z

By:

Baslow, Morris H.;
Guilfoyle, David N.

Publication type:

Article

Protracted form of Canavan's disease: Case history and protein kinase activity of membrane fractions.

Published in:

Acta Neuropathologica, 1981, v. 55, n. 3, p. 221, doi. 10.1007/BF00691321

By:

Boehme, D.;
Marks, N.

Publication type:

Article

The natural history of Canavan disease: 23 new cases and comparison with patients from literature.

Published in:

2021

By:

Bley, Annette;
Denecke, Jonas;
Kohlschütter, Alfried;
Schön, Gerhard;
Hischke, Sandra;
Guder, Philipp;
Bierhals, Tatjana;
Lau, Heather;
Hempel, Maja;
Eichler, Florian S.

Publication type:

journal article

Canavan disease: Clinical features and recent advances in research.

Published in:

Pediatrics International, 2014, v. 56, n. 4, p. 477, doi. 10.1111/ped.12422

By:

Hoshino, Hideki;
Kubota, Masaya

Publication type:

Article

Canavan disease: a rare form of leukodystrophy.

Published in:

2017

By:

Dogan, Gulec Mert;
Sigirci, Ahmet

Publication type:

Case Study

Presentation of a 2.5-years-old boy with Canavan disease.

Published in:

Journal of Mazandaran University of Medical Sciences (JMUMS), 2014, v. 23, n. 108, p. 145

By:

Abbaskhanian, Ali;
Zamanfar, Daniel;
Sadeghian, Iman

Publication type:

Article

Pathophysiology and Treatment of Canavan Disease.

Published in:

Neurochemical Research, 2020, v. 45, n. 3, p. 561, doi. 10.1007/s11064-018-2693-6

By:

Pleasure, David;
Guo, Fuzheng;
Chechneva, Olga;
Bannerman, Peter;
McDonough, Jennifer;
Burns, Travis;
Wang, Yan;
Hull, Vanessa

Publication type:

Article

Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease

Published in:

FEBS Letters, 2006, v. 580, n. 25, p. 5899, doi. 10.1016/j.febslet.2006.09.056

By:

Herga, S.;
Berrin, J.-G.;
Perrier, J.;
Puigserver, A.;
Giardina, T.

Publication type:

Article

Canavan Disease as a Rare Cause of Leukodystrophy: MRI and MRS Findings.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2021, v. 27, n. 4, p. 459, doi. 10.4274/tnd.2021.81236

By:

Atalar, Mehmet Haydar;
Gül, Enes;
Atik, İrfan;
Yıldız, Özlem Kayım

Publication type:

Article

A Novel Mutation in Aspartoacylase Gene; Canavan Disease.

Published in:

2015

By:

ASHRAFI, Mahmoudreza;
TAVASOLI, Alireza;
KATIBEH, Pegah;
ARYANI, Omid;
VAFAEE-SHAHI, Mohammad

Publication type:

Case Study

Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease

Published in:

Molecular Therapy, 2005, v. 11, n. 5, p. 745, doi. 10.1016/j.ymthe.2005.01.006

By:

Klugmann, Matthias;
Leichtlein, Claudia B.;
Symes, C. Wymond;
Serikawa, Tadao;
Young, Deborah;
During, Matthew J.

Publication type:

Article

Metabolic Changes in the Knockout Mouse for Canavan's Disease: Implications for Patients With Canavan's Disease.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 611, doi. 10.1177/08830738030180090701

By:

Surendran, Sankar;
Matalon, Kimberlee M.;
Szucs, Sylvia;
Tyring, Stephen K.;
Matalon, Reuben

Publication type:

Article

N-acetylaspartylglutamate in Canavan disease: an adverse effector?

Published in:

1999

By:

Burlina, A. P.;
Ferrari, V.;
Divry, P.;
Gradowska, W.;
Jakobs, C.;
Bennett, M. J.;
Sewell, A. C.;
Dionisi-Vici, C.;
Burlina, A. B.

Publication type:

journal article

Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.

Published in:

Cell & Bioscience, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13578-024-01224-6

By:

Grønbæk-Thygesen, Martin;
Hartmann-Petersen, Rasmus

Publication type:

Article

Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease.

Published in:

Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00161

By:

Appu, Abhilash P.;
Moffett, John R.;
Arun, Peethambaran;
Moran, Sean;
Nambiar, Vikram;
Krishnan, Jishnu K. S.;
Puthillathu, Narayanan;
Namboodiri, Aryan M. A.

Publication type:

Article

Protracted clinical course for patients with Canavan disease.

Published in:

1993

By:

Zelnik, N.;
Luder, A. S.;
Elpeleg, O. N.;
Gross-Tsur, V.;
Amir, N.;
Hemli, J. A.;
Fattal, A.;
Harel, S.

Publication type:

journal article

Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency.

Published in:

1991

By:

von Moers, A;
Sperner, J;
Michael, T;
Scheffner, D;
Schutgens, R H

Publication type:

journal article

Variable Course of Canavan Disease in Two Boys with Early Infantile Aspartoacylase Deficiency.

Published in:

Developmental Medicine & Child Neurology, 1991, v. 33, n. 9, p. 824, doi. 10.1111/j.1469-8749.1991.tb14967.x

By:

Moers, A. v.;
Sperner, J.;
Michael, Th.;
Scheffner, D.;
Schutgens, R. H. B.

Publication type:

Article

A novel Aspartoacylase (ASPA) Gene Mutation in Canavan Disease.

Published in:

Fetal & Pediatric Pathology, 2012, v. 31, n. 4, p. 236, doi. 10.3109/15513815.2011.650292

By:

Durmaz, Asude Alpman;
Akin, Haluk;
Onay, Huseyin;
Vahabi, Ali;
Ozkinay, Ferda

Publication type:

Article

Novel Mutation of Aspartoacylase Gene in a Turkish Patient with Canavan Disease.

Published in:

Journal of Tropical Pediatrics, 2008, v. 54, n. 3, p. 208

By:

Aycan Unalp;
Ender Altiok;
Nedret Uran;
Aysel Öztürk;
Sirin Yüksel

Publication type:

Article

Computed tomography in the diagnosis of Canavan's disease.

Published in:

1981

By:

Rushton, Alan R.;
Shaywitz, Bennett A.;
Duncan, Charles C.;
Geehr, Robert B.;
Manuelidis, Elias E.;
Rushton, A R;
Shaywitz, B A;
Duncan, C C;
Geehr, R B;
Manuelidis, E E

Publication type:

journal article

Restricted diffusion in Canavan disease.

Published in:

Child's Nervous System, 2007, v. 23, n. 4, p. 465, doi. 10.1007/s00381-006-0238-9

By:

S. Srikanth;
H. Chandrashekar;
K. Nagarajan;
P. Jayakumar

Publication type:

Article

Molecular Basis of Canavan's Disease: From Human to Mouse.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 604, doi. 10.1177/08830738030180090601

By:

Surendran, Sankar;
Matalon, Kimberlee M.;
Tyring, Stephen K.;
Matalon, Reuben

Publication type:

Article

Clinical and Magnetic Resonance Imaging Features of L-2-Hydroxyglutaric Acidemia: Report of Three Cases in Comparison With Canavan Disease.

Published in:

Journal of Child Neurology, 1996, v. 11, n. 5, p. 373, doi. 10.1177/088307389601100505

By:

Topçu, Meral;
Erdem, Guliz;
Saatçi, Islil;
Aktan, Gökhan;
Simsek, Ali;
Renda, Yavuz;
Schutgens, Ruud B. H.;
Wanders, Ronald J. A.;
Jacobs, Cornelis

Publication type:

Article

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

Published in:

2006

By:

Janson CG;
Kolodny EH;
Zeng BJ;
Raghavan S;
Pastores G;
Torres P;
Assadi M;
McPhee S;
Goldfarb O;
Saslow B;
Freese A;
Wang DJ;
Bilaniuk L;
Shera D;
Leone P

Publication type:

Journal Article

Mild‐onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

Published in:

Annals of Neurology, 2006, v. 59, n. 2, p. 428

By:

Christopher G. Janson;
Edwin H. Kolodny;
Bai‐Jin Zeng;
Srinivasa Raghavan;
Gregory Pastores;
Paola Torres;
Mitra Assadi;
Scott McPhee;
Olga Goldfarb;
Beth Saslow;
Andrew Freese;
D. J. Wang;
Larissa Bilaniuk;
David Shera;
Paola Leone

Publication type:

Article