Search Results - "KOEPPEN, Arnulf"

Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics by Koeppen, Arnulf H

“…Abstract The pathogenic mutation in Friedreich's ataxia (FRDA) is a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on chromosome 9q13…”
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The neuropathology of the adult cerebellum by Koeppen, Arnulf H

“…This chapter summarizes the neuropathologic features of nonneoplastic disorders of the adult cerebellum. Gait ataxia and extremity dysmetria are clinical…”
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Tissue Iron in Friedreich Ataxia by Koeppen, Arnulf H

“…Heart, dentate nucleus, and dorsal root ganglia (DRG) are targets of tissue damage in Friedreich ataxia (FA). This report summarizes the histology and…”
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Friedreich Ataxia: Neuropathology Revised by Koeppen, Arnulf H, Mazurkiewicz, Joseph E

“…ABSTRACTFriedreich ataxia is an autosomal recessive disorder that affects children and young adults. The mutation consists of a homozygous…”
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Somatic instability of the expanded GAA repeats in Friedreich's ataxia by Long, Ashlee, Napierala, Jill S, Polak, Urszula, Hauser, Lauren, Koeppen, Arnulf H, Lynch, David R, Napierala, Marek

“…Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA…”
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The pathogenesis of cardiomyopathy in Friedreich ataxia by Koeppen, Arnulf H, Ramirez, R Liane, Becker, Alyssa B, Bjork, Sarah T, Levi, Sonia, Santambrogio, Paolo, Parsons, Patrick J, Kruger, Pamela C, Yang, Karl X, Feustel, Paul J, Mazurkiewicz, Joseph E

“…Friedreich ataxia (FA) is an autosomal recessive disease with a complex neurological phenotype, but the most common cause of death is heart failure. This study…”
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The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis by Chatterjee, Arpita, Saha, Saikat, Chakraborty, Anirban, Silva-Fernandes, Anabela, Mandal, Santi M, Neves-Carvalho, Andreia, Liu, Yongping, Pandita, Raj K, Hegde, Muralidhar L, Hegde, Pavana M, Boldogh, Istvan, Ashizawa, Tetsuo, Koeppen, Arnulf H, Pandita, Tej K, Maciel, Patricia, Sarkar, Partha S, Hazra, Tapas K

“…DNA strand-breaks (SBs) with non-ligatable ends are generated by ionizing radiation, oxidative stress, various chemotherapeutic agents, and also as base…”
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Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3 by Gao, Rui, Liu, Yongping, Silva-Fernandes, Anabela, Fang, Xiang, Paulucci-Holthauzen, Adriana, Chatterjee, Arpita, Zhang, Hang L, Matsuura, Tohru, Choudhary, Sanjeev, Ashizawa, Tetsuo, Koeppen, Arnulf H, Maciel, Patricia, Hazra, Tapas K, Sarkar, Partha S

“…Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an untreatable autosomal dominant neurodegenerative disease, and the most…”
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Nikolaus Friedreich and degenerative atrophy of the dorsal columns of the spinal cord by Koeppen, Arnulf H.

“…Nikolaus Friedreich (1825–1882) presented clinical findings in six patients with a severe hereditary disorder of the nervous system and secured full autopsies…”
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Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia by Koeppen, Arnulf H, Becker, Alyssa B, Qian, Jiang, Feustel, Paul J

“…After Friedreich's description in 1877, depletion of myelinated fibers in the dorsal columns, dorsal spinocerebellar and lateral corticospinal tracts, and…”
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Correction: The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3'-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis by Chatterjee, Arpita, Saha, Saikat, Chakraborty, Anirban, Silva-Fernandes, Anabela, Mandal, Santi M, Neves-Carvalho, Andreia, Liu, Yongping, Pandita, Raj K, Hegde, Muralidhar L, Hegde, Pavana M, Boldogh, Istvan, Ashizawa, Tetsuo, Koeppen, Arnulf H, Pandita, Tej K, Maciel, Patricia, Sarkar, Partha S, Hazra, Tapas K

“…[This corrects the article DOI: 10.1371/journal.pgen.1004749.]…”
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Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach by Louis, Elan D., Kerridge, Chloë A., Chatterjee, Debotri, Martuscello, Regina T., Diaz, Daniel Trujillo, Koeppen, Arnulf H., Kuo, Sheng-Han, Vonsattel, Jean-Paul G., Sims, Peter A., Faust, Phyllis L.

“…Several morphological changes, centered in/around Purkinje cells (PCs), have been identified in the cerebellum of essential tremor (ET) patients. These changes…”
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Genome-wide analysis of miRNA expression reveals a potential role for miR-144 in brain aging and spinocerebellar ataxia pathogenesis by Persengiev, Stephan, Kondova, Ivanela, Otting, Nel, Koeppen, Arnulf H, Bontrop, Ronald E

“…Abstract Neurodegenerative pathologies associated with aging exhibit clinical and morphological features that are relatively specific to humans. To gain…”
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Friedreich Ataxia: Developmental Failure of the Dorsal Root Entry Zone by Koeppen, Arnulf H., Becker, Alyssa B., Qian, Jiang, Gelman, Benjamin B., Mazurkiewicz, Joseph E.

“…Abstract Dorsal root ganglia, dorsal roots (DR), and dorsal root entry zones (DREZ) are vulnerable to frataxin deficiency in Friedreich ataxia (FA). A…”
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Abnormal climbing fibre-Purkinje cell synaptic connections in the essential tremor cerebellum by LIN, Chi-Ying, LOUIS, Elan D, FAUST, Phyllis L, KOEPPEN, Arnulf H, VONSATTEL, Jean-Paul G, KUO, Sheng-Han

“…Structural changes in Purkinje cells have been identified in the essential tremor cerebellum, although the mechanisms that underlie these changes remain poorly…”
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From neurology to neuropathology and back by Koeppen, Arnulf H

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Mortality in Friedreich Ataxia by Tsou, Amy Y, Paulsen, Erin K, Lagedrost, Sarah J, Perlman, Susan L, Mathews, Katherine D, Wilmot, George R, Ravina, Bernard, Koeppen, Arnulf H, Lynch, David R

“…Abstract Background Although cardiac dysfunction is widely accepted as the most common cause of mortality in Friedreich ataxia (FRDA), no studies have…”
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ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis by Li, Pan P., Sun, Xin, Xia, Guangbin, Arbez, Nicolas, Paul, Sharan, Zhu, Shanshan, Peng, H. Benjamin, Ross, Christopher A., Koeppen, Arnulf H., Margolis, Russell L., Pulst, Stefan M., Ashizawa, Tetsuo, Rudnicki, Dobrila D.

“…Objective Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the gene ataxin‐2 (ATXN2). ATXN2…”
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The cerebellar component of Friedreich’s ataxia by Koeppen, Arnulf H., Davis, Ashley N., Morral, Jennifer A.

“…Lack of frataxin in Friedreich’s ataxia (FRDA) causes a complex neurological and pathological phenotype. Progressive atrophy of the dentate nucleus (DN) is a…”
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Abundance and Significance of Iron, Zinc, Copper, and Calcium in the Hearts of Patients with Friedreich Ataxia by Kruger, Pamela C., PhD, Yang, Karl X., PhD, Parsons, Patrick J., PhD, Becker, Alyssa B., BA, Feustel, Paul J., PhD, Koeppen, Arnulf H., MD

“…Abstract Cardiomyopathy is a frequent cause of death in patients with Friedreich ataxia (FA), and a characteristic pathological feature is the focal…”
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