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Select item 105919691.

Pathological Bergmann glia alterations and disrupted calcium dynamics in ataxic Canavan disease mice

Vanessa L. Hull, Yan Wang, Travis Burns, Sarah Sternbach, Shuaishuai Gong, Jennifer McDonough, Fuzheng Guo, Laura N. Borodinsky, David Pleasure

Glia. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Glia. 2023 Dec; 71(12): 2832–2849. Published online 2023 Aug 23. doi: 10.1002/glia.24454

PMCID:: PMC10591969

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Select item 104329502.

Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation

Manuela Corti, Barry J. Byrne, Dominic J. Gessler, Grace Thompson, Samantha Norman, Jenna Lammers, Kirsten E. Coleman, Cristina Liberati, Melissa E. Elder, Maria L. Escolar, Ibrahim S. Tuna, Clementina Mesaros, Gary I. Kleiner, Deborah S. Barbouth, Heather L. Gray-Edwards, Nathalie Clement, Brian D. Cleaver, Guangping Gao

Mol Ther Methods Clin Dev. 2023 Sep 14; 30: 303–314. Published online 2023 Jun 19. doi: 10.1016/j.omtm.2023.06.001

PMCID:: PMC10432950

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Select item 100343053.

An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature

Rana Irilouzadian, Ali Goudarzi, Hamed Hesami, Roham Sarmadian, Habibe Nejad Biglari, Abolfazl Gilani

SAGE Open Med Case Rep. 2023; 11: 2050313X231160885. Published online 2023 Mar 21. doi: 10.1177/2050313X231160885

PMCID:: PMC10034305

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Select item 97726174.

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

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

Front Mol Neurosci. 2022; 15: 1061257. Published online 2022 Dec 8. doi: 10.3389/fnmol.2022.1061257

PMCID:: PMC9772617

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Select item 95787785.

Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene

Maya Dattatraya Bhat, Netravathi Manjunath, Renu Kumari, Mohammed Faruq, Pramod Kumar Pal, Chandrajit Prasad, Ravindranadh Chowdary Mundlamuri, Atchayaram Nalini, Gautham Arunachal Udupi, Priyanka Priyadarshini Baishya, Karthik Kulanthaivelu

J Pediatr Genet. 2022 Dec; 11(4): 267–271. Published online 2021 Mar 10. doi: 10.1055/s-0041-1725118

PMCID:: PMC9578778

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Select item 91426666.

Therapeutic development for Canavan disease using patient iPSCs introduced with the wild-type ASPA gene

Jianfei Chao, Lizhao Feng, Peng Ye, Xianwei Chen, Qi Cui, Guihua Sun, Tao Zhou, E Tian, Wendong Li, Weidong Hu, Arthur D. Riggs, Reuben Matalon, Yanhong Shi

iScience. 2022 Jun 17; 25(6): 104391. Published online 2022 May 11. doi: 10.1016/j.isci.2022.104391

PMCID:: PMC9142666

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Select item 85230377.

Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice

Vanessa Hull, Yan Wang, Travis Burns, Sheng Zhang, Sarah Sternbach, Jennifer McDonough, Fuzheng Guo, David Pleasure

Ann Neurol. Author manuscript; available in PMC 2021 Oct 18.

Published in final edited form as: Ann Neurol. 2020 Mar; 87(3): 480–485. Published online 2020 Jan 22. doi: 10.1002/ana.25674

PMCID:: PMC8523037

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Select item 83701688.

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

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

Ann Indian Acad Neurol. 2021 May-Jun; 24(3): 347–350. Published online 2020 Dec 1. doi: 10.4103/aian.AIAN_386_20

PMCID:: PMC8370168

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Select item 83316169.

Canavan disease: CT and MR imaging of the brain.

J Brismar, G Brismar, G Gascon, P Ozand

AJNR Am J Neuroradiol. 1990 Jul-Aug; 11(4): 805-10.

PMCID:: PMC8331616

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Select item 813241510.

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

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

Orphanet J Rare Dis. 2021; 16: 227. Published online 2021 May 19. doi: 10.1186/s13023-020-01659-3

PMCID:: PMC8132415

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Select item 810278111.

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

Anoushka Lotun, Dominic J. Gessler, Guangping Gao

Front Cell Neurosci. 2021; 15: 661928. Published online 2021 Apr 23. doi: 10.3389/fncel.2021.661928

PMCID:: PMC8102781

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Select item 770997712.

Cell‐Based Therapy for Canavan Disease Using Human iPSC‐Derived NPCs and OPCs

Lizhao Feng, Jianfei Chao, E Tian, Li Li, Peng Ye, Mi Zhang, Xianwei Chen, Qi Cui, Guihua Sun, Tao Zhou, Gerardo Felix, Yue Qin, Wendong Li, Edward David Meza, Jeremy Klein, Lucy Ghoda, Weidong Hu, Yonglun Luo, Wei Dang, David Hsu, Joseph Gold, Steven A. Goldman, Reuben Matalon, Yanhong Shi

Adv Sci (Weinh) 2020 Dec; 7(23): 2002155. Published online 2020 Oct 29. doi: 10.1002/advs.202002155

PMCID:: PMC7709977

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Select item 660545813.

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

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

J Neurosci. 2015 Oct 28; 35(43): 14501–14516. doi: 10.1523/JNEUROSCI.1056-15.2015

PMCID:: PMC6605458

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Select item 545405214.

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

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

Front Mol Neurosci. 2017; 10: 161. Published online 2017 Jun 2. doi: 10.3389/fnmol.2017.00161

PMCID:: PMC5454052

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Select item 541289215.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Marisa I Mendes, Desirée EC Smith, Ana Pop, Pascal Lennertz, Matilde R Fernandez Ojeda, Warsha A Kanhai, Silvy JM van Dooren, Yair Anikster, Ivo Barić, Caroline Boelen, Jaime Campistol, Lonneke de Boer, Ariana Kariminejad, Hulya Kayserili, Agathe Roubertie, Krijn T Verbruggen, Christine Vianey‐Saban, Monique Williams, Gajja S Salomons

Hum Mutat. 2017 May; 38(5): 524–531. Published online 2017 Feb 14. doi: 10.1002/humu.23181

PMCID:: PMC5412892

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Select item 514241316.

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

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

Orphanet J Rare Dis. 2016; 11: 169. Published online 2016 Dec 7. doi: 10.1186/s13023-016-0549-1

PMCID:: PMC5142413

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Select item 467097817.

A Novel Mutation in Aspartoacylase Gene; Canavan Disease

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

Iran J Child Neurol. 2015 Autumn; 9(4): 54–57.

PMCID:: PMC4670978

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Select item 414212918.

Brain ultrasound in Canavan disease

B. Drera, C. Poggiani

J Ultrasound. 2014 Sep; 17(3): 215–217. Published online 2014 Jun 21. doi: 10.1007/s40477-014-0108-3

PMCID:: PMC4142129

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Select item 379445719.

Long-Term Follow-Up After Gene Therapy for Canavan Disease

Paola Leone, David Shera, Scott W.J. McPhee, Jeremy S. Francis, Edwin H. Kolodny, Larissa T. Bilaniuk, Dah-Jyuu Wang, Mitra Assadi, Olga Goldfarb, H. Warren Goldman, Andrew Freese, Deborah Young, Matthew J. During, R. Jude Samulski, Christopher G. Janson

Sci Transl Med. Author manuscript; available in PMC 2013 Dec 19.

Published in final edited form as: Sci Transl Med. 2012 Dec 19; 4(165): 165ra163. doi: 10.1126/scitranslmed.3003454

PMCID:: PMC3794457

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Select item 304232120.

Impact of Gene Patents and Licensing Practices on Access to Genetic Testing and Carrier Screening for Tay-Sachs and Canavan Disease

Alessandra Colaianni, Subhashini Chandrasekharan, Robert Cook-Deegan

Genet Med. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Genet Med. 2010 Apr; 12(4 Suppl): S5–S14. doi: 10.1097/GIM.0b013e3181d5a669

PMCID:: PMC3042321

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