Search Results - "FISCHBECK, K"

Spinal and bulbar muscular atrophy: pathogenesis and clinical management by Grunseich, C, Rinaldi, C, Fischbeck, KH

“…Spinal and bulbar muscular atrophy, or Kennedy's disease, is an X‐linked motor neuron disease caused by polyglutamine repeat expansion in the androgen…”
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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes by ZIMON, M, BAETS, J, GUELLY, C, HUBER, N, DE VRIENDT, E, TIMMERMAN, V, SUTER, U, PETRUSEWICZ, I. Hausmanowa, NIEMANN, A, KOCHANSKI, A, DE JONGHE, P, JORDANOVA, A, FABRIZI, G. M, JAAKKOLA, E, KABZINSKA, D, PILCH, J, SCHINDLER, A. B, CORNBLATH, D. R, FISCHBECK, K. H, AUER-GRUMBACH, M

“…Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations are commonly associated with autosomal recessive Charcot-Marie-Tooth (ARCMT)…”
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Mifepristone-inducible transgene expression in neural progenitor cells in vitro and in vivo by Hjelm, B E, Grunseich, C, Gowing, G, Avalos, P, Tian, J, Shelley, B C, Mooney, M, Narwani, K, Shi, Y, Svendsen, C N, Wolfe, J H, Fischbeck, K H, Pierson, T M

“…Numerous gene and cell therapy strategies are being developed for the treatment of neurodegenerative disorders. Many of these strategies use constitutive…”
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SMN mRNA and protein levels in peripheral blood : Biomarkers for SMA clinical trials by SUMNER, C. J, KOLB, S. J, HARMISON, G. G, JEFFRIES, N. O, SCHADT, K, FINKEL, R. S, DREYFUSS, G, FISCHBECK, K. H

“…Clinical trials of drugs that increase SMN protein levels in vitro are currently under way in patients with spinal muscular atrophy. To develop and validate…”
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Trinucleotide repeats in neurogenetic disorders by PAULSON, H. L, FISCHBECK, K. H

“…Trinucleotide repeat expansion is increasingly recognized as a cause of neurogenetic diseases. To date, seven diseases have been identified as expanded repeat…”
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Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease by Bergoffen, J., Scherer, S. S., Wang, S., Scott, M. Oronzi, Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H.

“…X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The…”
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Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting by Verbeek, D. S., Knight, M. A., Harmison, G. G., Fischbeck, K. H., Howell, B. W.

“…The protein kinase C gamma (PKCγ) gene is mutated in spinocerebellar ataxia type 14 (SCA14). In this study, we investigated the effects of two SCA14 missense…”
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Measuring Friedreich ataxia : Interrater reliability of a neurologic rating scale by SUBRAMONY, S. H, MAY, W, LYNCH, D, GOMEZ, C, FISCHBECK, K, HALLETT, M, TAYLOR, P, WILSON, R, ASHIZAWA, T

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INV11 Motor neuron and muscle involvement in SBMA: therapeutic implications by Fischbeck, K.

“…Spinal and bulbar muscular atrophy (SBMA, Kennedy's disease) is a neuromuscular disorder caused by expansion of a CAG trinucleotide repeat in the androgen…”
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Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3 by Paulson, H.L, Perez, M.K, Trottier, Y, Trojanowski, J.Q, Subramony, S.H, Das, S.S, Vig, P, Mandel, J.-L, Fischbeck, K.H, Pittman, R.N

“…The mechanism of neurodegeneration in CAG/polyglutamine repeat expansion diseases is unknown but is thought to occur at the protein level. Here, in studies of…”
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Kennedy disease by Fischbeck, K. H.

“…Kennedy disease is a disorder with progressive motor neuron degeneration that is caused by trinucleotide repeat expansion in the androgen receptor gene. The…”
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Cleavage, Aggregation and Toxicity of the Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy by Merry, D. E., Kobayashi, Y., Bailey, C. K., Taye, A. A., Fischbeck, K. H.

“…Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of a polyglutamine repeat within the androgen receptor (AR)…”
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Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19 by Meilleur, K. G., Traoré, M., Sangaré, M., Britton, A., Landouré, G., Coulibaly, S., Niaré, B., Mochel, F., La Pean, A., Rafferty, I., Watts, C., Shriner, D., Littleton-Kearney, M. T., Blackstone, C., Singleton, A., Fischbeck, K. H.

“…We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had…”
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Polyglutamine and CBP: Fatal attraction? by McCampbell, Alexander, Fischbeck, Kenneth H

“…The mutant proteins that cause polyglutamine disease bind CREB-binding protein (CBP), a key transcriptional coactivator for neuronal survival factors. This…”
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P.15.3 Effects of ZASP mutations on Z-disc proteins associated with myofibrillar myopathy in skeletal muscle by Lin, X, Brubaker, L, Bajraktari, I, Ohman, R, Griggs, R, Fischbeck, K, Mankodi, A

“…Myofibrillar myopathies (MFM) are caused by mutations in at least 6 Z-disc associated proteins, including ZASP, myotilin, desmin, BAG3, αβ -crystallin, and…”
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Clinical and genetic analysis of spinocerebellar ataxia in Mali by Traoré, M., Coulibaly, T., Meilleur, K. G., La Pean, A., Sangaré, M., Landouré, G., Mochel, F., Karambé, M., Guinto, C. O., Fischbeck, K. H.

“…Background:  Autosomal dominant cerebellar ataxia, currently denominated spinocerebellar ataxia (SCAs), represents a heterogeneous group of neurodegenerative…”
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Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy by Li, M, Miwa, S, Kobayashi, Y, Merry, D E, Yamamoto, M, Tanaka, F, Doyu, M, Hashizume, Y, Fischbeck, K H, Sobue, G

“…Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuronopathy caused by the expansion of an unstable CAG repeat in the coding region of the…”
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P.15.4 ZASP–sZM mutations in myofibrillar myopathy cause skeletal muscle Z-disc disruption by disassembling α -actinin cross-linked skeletal actin filaments by Lin, X, Ruiz, J, Bajraktari, I, Banerjee, S, Gribble, K, Griggs, R, Fischbeck, K, Mankodi, A

“…Myofibrillar myopathies (MFM) are characterized by early and prominent disruption of the Z-disc with focal dissolution of myofibrils and ectopic accumulation…”
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G.O.10 by Mankodi, A, Janiczek, R, Froeling, M, Azzabou, N, Gaur, L, Stock, D, Evers, R, Bishop, C, Yao, L, Grunseich, C, Arai, A, Carlier, P, Fischbeck, K

“…With the promise of new treatments for Duchenne muscular dystrophy (DMD), there is a need for development of noninvasive biomarkers to assess pharmacologic…”
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Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease by Traoré, M., Landouré, G., Motley, W., Sangaré, M., Meilleur, K., Coulibaly, S., Traoré, S., Niaré, B., Mochel, F., La Pean, A., Vortmeyer, A., Mani, H., Fischbeck, K. H.

“…We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhood-onset progressive myoclonus epilepsy and…”
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