Results 101 to 110 of about 1,518 (174)

Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration.

, 2017
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegeneration with brain iron accumulation and characterized by extrapyramidal signs, vision loss, and intellectual decline.
한진우, 한승한, 김도욱
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Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

, 2005
Pantothenate kinase-associated neurodegeneration (PKAN) causes a progressive generalized dystonia which remains pharmacologically intractable. We performed bilateral internal globus pallidus stimulation in six patients with genetically confirmed PKAN who
Annalisa DiGiorgio, Gannau, A, VALENTE, ENZA MARIA, Laura Cif, Digiorgio, A, Gannau, A., Coubes, P., Vayssière, Nathalie, Hemm, S, Nathalie Vayssiere, Philippe Coubes, Vayssiere, N, Hemm, S., Cif, L, Enza Maria Valente, Amandine Gannau, Cif, Laura, Pierre Castelnau, Simone Hemm, Coubes, Philippe, Castelnau, P., Digiorgio, A., Castelnau, P, Valente, E.M.   +23 more
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Impaired drug-induced endovesiculation in erythrocytes of patients with acanthocytosis.

, 2013
Erythrocytes from patients (ChAc, PKAN+, PKAN-) and control donors were subjected to drug-induced endovesiculation using 3 mM primaquine. The amount of FITC-dextran positive cells (in %) was assessed by flow cytometry as described.
Holger Prokisch (26590), Andreas Hermann (159135), Esther M. Sammler (466180), Rainer Prohaska (466182), Benedikt Bader (184560), Monika Hartig (466178), Claudia Siegl (466174), Patricia Hamminger (466175), Allison Gregory (466177), Zuhal Yapici (466181), Adrian Danek (4947), Uwe Ahting (66296), Ulrich Salzer (194990), Herbert Jank (466176), Susan Hayflick (466179)   +14 more
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The role of impaired De novo Coenzyne A biosynthesis in pantothenate kinase-associated neurodegeneration : insight from a Drosophila model [PDF]

, 2010
Pantothenate kinase-associated neurodegeneration (PKAN, OMIM 234200) is an autosomal recessive, progressive neurodegenerative disorder. PKAN is caused by mutations in pantothenate kinase 2 (PANK2), the gene that encodes an enzyme (PANK2) which is a rate ...
Rana, Anil,, Rana, Anil
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Phenotypes and Genotypes of Patients with Pantothenate Kinase-Associated Neurodegeneration in Asian and Caucasian Populations: 2 Cases and Literature Review [PDF]

, 2020
Objectives. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with ...
Chia-Ling Huang, Wen-Li Chuang, Tu-Hsueh Yeh, Siegel, Szu-Chia Lai, G Leung, Chih-Hong Lee, Chin-Song Lu, Shih-Ming Jung   +8 more
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Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Pantothenate kinase ⁃ associated neurodegeneration (PKAN) is a major form of neurodegeneration with brain iron accumulation or NBIA (formerly called Hallervorden ⁃ Spatz syndrome).
Xiao⁃yuan LI, Xian⁃wen CHEN
doaj  

Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcification

Frontiers in Genetics
BackgroundPantothenate kinase-associated neurodegeneration (PKAN) is the most common subtype of neurodegeneration with brain iron accumulation and is classically associated with pallidal iron deposition and the “eye-of-the-tiger” sign on MRI.
Feng Liang, Rui Ban, Jiajun Li, Jian Li, Shanglin Li, Jia Chen, Di Wang, Yanan Liu, Zhen Luo, Jing Li, Li Wang   +10 more
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A Case of Retinal Pigmentary Degeneration in PKAN

Journal of the Korean Ophthalmological Society, 2013
Seong Ho Jo, Chong Kun Cheon, Yong U Kim, Jae Ho Jung   +3 more
openaire   +1 more source

Overexpression of human mutant PANK2 mRNAs in zebrafish embryos to gain insight about PKAN pathogenesis

, 2017
Pantothenate Kinase Associated Neurodegeneration (PKAN) is an autosomal recessive disorder with mutations in the pantothenate kinase 2 gene (PANK2), encoding an essential enzyme for Coenzyme A (CoA) biosynthesis.
ZIZIOLI, DANIELA, TISO, NATASCIA, FACCHINELLO, NICOLA, Finazzi, D., Khatri, D, Monti, E   +5 more
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Knock-down of pank2 in zebrafish and overexpression of human PANK2 in zebrafish: insight for PKAN pathogenesis

, 2017
PKAN is an autosomal recessive disorder with mutations in the PANK2 gene, encoding an essen- tial enzyme for CoA biosynthesis. The molecular connection between defects in this enzyme and the neurodegenerative phenotype observed in PKAN patients is still ...
ZIZIOLI, DANIELA, TISO, NATASCIA, Finazzi, D., Vezzoli, S., GIANONCELLI, ALESSANDRA, Khatri, D.   +5 more
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