Results 91 to 100 of about 2,664 (184)

Pathological Bergmann glia alterations and disrupted calcium dynamics in ataxic Canavan disease mice. [PDF]

Glia, 2023
Hull VL, Wang Y, Wang Y, Burns T, Sternbach S, Gong S, McDonough J, Guo F, Borodinsky LN, Pleasure D.   +9 more
europepmc   +1 more source

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials

Neurotherapeutics
Leukodystrophies are progressive single gene disorders affecting the white matter of the brain. Several gene therapy trials are in progress to address the urgent unmet need for this patient population.
Jasna Metovic, Yedda Li, Yi Gong, Florian Eichler   +3 more
doaj   +1 more source

Canavan Disease (Spongy Cerebral Degeneration) - A Case Report - [PDF]

, 1995
We report a case of Canavan disease in a 6 month-old male Korean baby who presented with aggravating tonic-clonic seizure for 5 days. Pathologic' findings could be summarized as follows; increase in brain volume and weight, spongy degeneration in the ...
Kim, In-One, Hwang, Yong Seung, Cho, Byung Kyu, Wang, Kyu Chang, Chi, Je G., Kim, Chong Jai, Oh, Mee Hye   +6 more
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On Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: Genomic signatures of a founder event. [PDF]

Eur J Hum Genet, 2023
Das R.
europepmc   +1 more source

Molecular studies of Canavan Disease

, 1994
Canavan disease (CD), an autosomal recessive leukodystrophy, is caused by the deficiency of aspartoacylase {ASPA}. The human ASPA cDNA spanning 1,435 bp has been isolated and characterized.
Gao, Guangping
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Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly

The Turkish Journal of Pediatrics, 2004
Canavan disease (CD) is a rare autosomal recessive genetic disorder characterized by early onset progressive spongy degeneration of the brain involving the axon's myelin sheath.
Meral Topçu, Dilek Yalnizoğlu, Işil Saatçi, Göknur Haliloğlu, Haluk Topaloğlu, Nesrin Senbil, Saniye Onol, Turgay Coşkun   +7 more
doaj  

Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event. [PDF]

Eur J Hum Genet, 2023
Kotambail A, Selvam P, Muthusamy K, Thomas M, Sudhakar SV, Ghati C, Danda S, Arunachal G.   +7 more
europepmc   +1 more source

LncRNA CRNDE promotes hepatoma cell proliferation by regulating the metabolic reprogramming of M2 macrophages via ERK pathway

Cancer Cell International
Background LncRNA colorectal neoplasia differentially expressed (CRNDE) was found to be an important regulator in many cancers. This project focuses on the function of CRNDE on macrophage metabolic reprogramming and Hepatocellular carcinoma (HCC). Method
Chao Lin, Tao Jiang, Changyong E, Lun Wang, Tong Chen, Xia Wang, Yien Xiang   +6 more
doaj   +1 more source

Левкодистрофии и левкоенцефалопатии в детската възраст – актуална класификация, диагностициране и лечение

Българска неврология, 2020
Левкодистрофиите и левкоенцефалопатиите са редки генетични прогресиращи заболявания на нервната система с начало в детската възраст с нарушен миелинов синтез в централната нервна система (ЦНС), по-рядко и в периферните нерви. Актуалната им класификация,
Veneta Bojinova, I. Milanov, A. Todorova, T. Todorov, N. Topalov   +4 more
doaj  

Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan\u27s disease: a case report.

, 1991
The neuroradiological evaluation of Canavan\u27s disease in a 38-month-old girl is discussed. Computed tomography showed diffuse symmetrical low attenuation values of the subcortical and deep cerebral white matter. Magnetic resonance imaging demonstrated
Bogdan, A R, Detre, J A, Caro, P A, Marks, H G, Zimmerman, R A, Wang, Z Y, Gusnard, D A   +6 more
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