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[No title available]

Neurology. Genetics

Neuhofer CM, Catarino CB, Schmidt H, Seelos K, Alhaddad B, Haack TB, Klopstock T.
PMID: 32802957
Neurol Genet. 2020 Aug 04;6(5):e500. doi: 10.1212/NXG.0000000000000500. eCollection 2020 Oct.

OBJECTIVE: Clinical, neuroimaging, and genetic characterization of 3 patients with METHODS: Three affected brothers from a consanguineous family from Afghanistan, their 2 healthy siblings, and both parents were all assessed in the clinic. General and neurologic examination, expert dysmorphology...

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Neuhofer CM, Catarino CB, Schmidt H, et al. . Neurol Genet. 2020;6(5):e500doi: 10.1212/NXG.0000000000000500.
Neuhofer, C. M., Catarino, C. B., Schmidt, H., Seelos, K., Alhaddad, B., Haack, T. B., & Klopstock, T. (2020). . Neurology. Genetics, 6(5), e500. https://doi.org/10.1212/NXG.0000000000000500
Neuhofer, Christiane M, et al. "." Neurology. Genetics vol. 6,5 (2020): e500. doi: https://doi.org/10.1212/NXG.0000000000000500
Neuhofer CM, Catarino CB, Schmidt H, Seelos K, Alhaddad B, Haack TB, Klopstock T. . Neurol Genet. 2020 Aug 04;6(5):e500. doi: 10.1212/NXG.0000000000000500. eCollection 2020 Oct. PMID: 32802957; PMCID: PMC7413627.
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Histone H3.3 beyond cancer: Germline mutations in .

Science advances

Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, Martin MG, Martinez-Agosto JA, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ.
PMID: 33268356
Sci Adv. 2020 Dec 02;6(49). doi: 10.1126/sciadv.abc9207. Print 2020 Dec.

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (

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Bryant L, Li D, Cox SG, et al. Histone H3.3 beyond cancer: Germline mutations in . Sci Adv. 2020;6(49)doi: 10.1126/sciadv.abc9207.
Bryant, L., Li, D., Cox, S. G., Marchione, D., Joiner, E. F., Wilson, K., Janssen, K., Lee, P., March, M. E., Nair, D., Sherr, E., Fregeau, B., Wierenga, K. J., Wadley, A., Mancini, G. M. S., Powell-Hamilton, N., van de Kamp, J., Grebe, T., Dean, J., Ross, A., Crawford, H. P., Powis, Z., Cho, M. T., Willing, M. C., Manwaring, L., Schot, R., Nava, C., Afenjar, A., Lessel, D., Wagner, M., Klopstock, T., Winkelmann, J., Catarino, C. B., Retterer, K., Schuette, J. L., Innis, J. W., Pizzino, A., Lüttgen, S., Denecke, J., Strom, T. M., Monaghan, K. G., Yuan, Z. F., Dubbs, H., Bend, R., Lee, J. A., Lyons, M. J., Hoefele, J., Günthner, R., Reutter, H., Keren, B., Radtke, K., Sherbini, O., Mrokse, C., Helbig, K. L., Odent, S., Cogne, B., Mercier, S., Bezieau, S., Besnard, T., Kury, S., Redon, R., Reinson, K., Wojcik, M. H., Õunap, K., Ilves, P., Innes, A. M., Kernohan, K. D., Costain, G., Meyn, M. S., Chitayat, D., Zackai, E., Lehman, A., Kitson, H., Martin, M. G., Martinez-Agosto, J. A., Nelson, S. F., Palmer, C. G. S., Papp, J. C., Parker, N. H., Sinsheimer, J. S., Vilain, E., Wan, J., Yoon, A. J., Zheng, A., Brimble, E., Ferrero, G. B., Radio, F. C., Carli, D., Barresi, S., Brusco, A., Tartaglia, M., Thomas, J. M., Umana, L., Weiss, M. M., Gotway, G., Stuurman, K. E., Thompson, M. L., McWalter, K., Stumpel, C. T. R. M., Stevens, S. J. C., Stegmann, A. P. A., Tveten, K., Vøllo, A., Prescott, T., Fagerberg, C., Laulund, L. W., Larsen, M. J., Byler, M., Lebel, R. R., Hurst, A. C., Dean, J., Schrier Vergano, S. A., Norman, J., Mercimek-Andrews, S., Neira, J., Van Allen, M. I., Longo, N., Sellars, E., Louie, R. J., Cathey, S. S., Brokamp, E., Heron, D., Snyder, M., Vanderver, A., Simon, C., de la Cruz, X., Padilla, N., Crump, J. G., Chung, W., Garcia, B., Hakonarson, H. H., & Bhoj, E. J. (2020). Histone H3.3 beyond cancer: Germline mutations in . Science advances, 6(49), . https://doi.org/10.1126/sciadv.abc9207
Bryant, Laura, et al. "Histone H3.3 beyond cancer: Germline mutations in ." Science advances vol. 6,49 (2020). doi: https://doi.org/10.1126/sciadv.abc9207
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, Martin MG, Martinez-Agosto JA, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Histone H3.3 beyond cancer: Germline mutations in . Sci Adv. 2020 Dec 02;6(49). doi: 10.1126/sciadv.abc9207. Print 2020 Dec. PMID: 33268356; PMCID: PMC7821880.
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Atrophy in the Thalamus But Not Cerebellum Is Specific for .

Frontiers in aging neuroscience

Schönecker S, Neuhofer C, Otto M, Ludolph A, Kassubek J, Landwehrmeyer B, Anderl-Straub S, Semler E, Diehl-Schmid J, Prix C, Vollmar C, Fortea J, Huppertz HJ, Arzberger T, Edbauer D, Feddersen B, Dieterich M, Schroeter ML, Volk AE, Fließbach K, Schneider A, Kornhuber J, Maler M, Prudlo J, Jahn H, Boeckh-Behrens T, Danek A, Klopstock T, Levin J.
PMID: 29599716
Front Aging Neurosci. 2018 Mar 15;10:45. doi: 10.3389/fnagi.2018.00045. eCollection 2018.

No abstract available.

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Schönecker S, Neuhofer C, Otto M, et al. Atrophy in the Thalamus But Not Cerebellum Is Specific for . Front Aging Neurosci. 2018;10:45doi: 10.3389/fnagi.2018.00045.
Schönecker, S., Neuhofer, C., Otto, M., Ludolph, A., Kassubek, J., Landwehrmeyer, B., Anderl-Straub, S., Semler, E., Diehl-Schmid, J., Prix, C., Vollmar, C., Fortea, J., Huppertz, H. J., Arzberger, T., Edbauer, D., Feddersen, B., Dieterich, M., Schroeter, M. L., Volk, A. E., Fließbach, K., Schneider, A., Kornhuber, J., Maler, M., Prudlo, J., Jahn, H., Boeckh-Behrens, T., Danek, A., Klopstock, T., & Levin, J. (2018). Atrophy in the Thalamus But Not Cerebellum Is Specific for . Frontiers in aging neuroscience, 1045. https://doi.org/10.3389/fnagi.2018.00045
Schönecker, Sonja, et al. "Atrophy in the Thalamus But Not Cerebellum Is Specific for ." Frontiers in aging neuroscience vol. 10 (2018): 45. doi: https://doi.org/10.3389/fnagi.2018.00045
Schönecker S, Neuhofer C, Otto M, Ludolph A, Kassubek J, Landwehrmeyer B, Anderl-Straub S, Semler E, Diehl-Schmid J, Prix C, Vollmar C, Fortea J, Huppertz HJ, Arzberger T, Edbauer D, Feddersen B, Dieterich M, Schroeter ML, Volk AE, Fließbach K, Schneider A, Kornhuber J, Maler M, Prudlo J, Jahn H, Boeckh-Behrens T, Danek A, Klopstock T, Levin J. Atrophy in the Thalamus But Not Cerebellum Is Specific for . Front Aging Neurosci. 2018 Mar 15;10:45. doi: 10.3389/fnagi.2018.00045. eCollection 2018. PMID: 29599716; PMCID: PMC5863593.
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Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers.

International journal of molecular sciences

Elstner M, Olszewski K, Prokisch H, Klopstock T, Murgia M.
PMID: 34681740
Int J Mol Sci. 2021 Oct 14;22(20). doi: 10.3390/ijms222011080.

Mitochondrial DNA deletions affect energy metabolism at tissue-specific and cell-specific threshold levels, but the pathophysiological mechanisms determining cell fate remain poorly understood. Chronic progressive external ophthalmoplegia (CPEO) is caused by mtDNA deletions and characterized by a mosaic distribution of...

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Elstner M, Olszewski K, Prokisch H, et al. Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers. Int J Mol Sci. 2021;22(20)doi: 10.3390/ijms222011080.
Elstner, M., Olszewski, K., Prokisch, H., Klopstock, T., & Murgia, M. (2021). Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers. International journal of molecular sciences, 22(20), . https://doi.org/10.3390/ijms222011080
Elstner, Matthias, et al. "Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers." International journal of molecular sciences vol. 22,20 (2021). doi: https://doi.org/10.3390/ijms222011080
Elstner M, Olszewski K, Prokisch H, Klopstock T, Murgia M. Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers. Int J Mol Sci. 2021 Oct 14;22(20). doi: 10.3390/ijms222011080. PMID: 34681740; PMCID: PMC8537949.
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Neuron-specific inactivation of .

Life science alliance

Schnerwitzki D, Perry S, Ivanova A, Caixeta FV, Cramer P, Günther S, Weber K, Tafreshiha A, Becker L, Vargas Panesso IL, Klopstock T, Hrabe de Angelis M, Schmidt M, Kullander K, Englert C.
PMID: 30456369
Life Sci Alliance. 2018 Aug 16;1(4):e201800106. doi: 10.26508/lsa.201800106. eCollection 2018 Aug.

Locomotion is coordinated by neuronal circuits of the spinal cord. Recently, dI6 neurons were shown to participate in the control of locomotion. A subpopulation of dI6 neurons expresses the Wilms tumor suppressor gene

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Schnerwitzki D, Perry S, Ivanova A, et al. Neuron-specific inactivation of . Life Sci Alliance. 2018;1(4):e201800106doi: 10.26508/lsa.201800106.
Schnerwitzki, D., Perry, S., Ivanova, A., Caixeta, F. V., Cramer, P., Günther, S., Weber, K., Tafreshiha, A., Becker, L., Vargas Panesso, I. L., Klopstock, T., Hrabe de Angelis, M., Schmidt, M., Kullander, K., & Englert, C. (2018). Neuron-specific inactivation of . Life science alliance, 1(4), e201800106. https://doi.org/10.26508/lsa.201800106
Schnerwitzki, Danny, et al. "Neuron-specific inactivation of ." Life science alliance vol. 1,4 (2018): e201800106. doi: https://doi.org/10.26508/lsa.201800106
Schnerwitzki D, Perry S, Ivanova A, Caixeta FV, Cramer P, Günther S, Weber K, Tafreshiha A, Becker L, Vargas Panesso IL, Klopstock T, Hrabe de Angelis M, Schmidt M, Kullander K, Englert C. Neuron-specific inactivation of . Life Sci Alliance. 2018 Aug 16;1(4):e201800106. doi: 10.26508/lsa.201800106. eCollection 2018 Aug. PMID: 30456369; PMCID: PMC6238623.
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Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730].

EBioMedicine

Tan J, Wagner M, Stenton SL, Strom TM, Wortmann SB, Prokisch H, Meitinger T, Oexle K, Klopstock T.
PMID: 33096486
EBioMedicine. 2020 Nov;61:103072. doi: 10.1016/j.ebiom.2020.103072. Epub 2020 Oct 21.

No abstract available.

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Tan J, Wagner M, Stenton SL, et al. Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]. EBioMedicine. 2020;61:103072doi: 10.1016/j.ebiom.2020.103072.
Tan, J., Wagner, M., Stenton, S. L., Strom, T. M., Wortmann, S. B., Prokisch, H., Meitinger, T., Oexle, K., & Klopstock, T. (2020). Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]. EBioMedicine, 61103072. https://doi.org/10.1016/j.ebiom.2020.103072
Tan, Jing, et al. "Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]." EBioMedicine vol. 61 (2020): 103072. doi: https://doi.org/10.1016/j.ebiom.2020.103072
Tan J, Wagner M, Stenton SL, Strom TM, Wortmann SB, Prokisch H, Meitinger T, Oexle K, Klopstock T. Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]. EBioMedicine. 2020 Nov;61:103072. doi: 10.1016/j.ebiom.2020.103072. Epub 2020 Oct 21. PMID: 33096486; PMCID: PMC7581886.
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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.

Frontiers in neurology

Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L, Synofzik M.
PMID: 34248822
Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021.

Autosomal recessive cerebellar ataxias (ARCAs) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and other neurological or non-neurological systems. With the advent of targeted therapies for ARCAs, disease registries have become a precious source...

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Traschütz A, Reich S, Adarmes AD, et al. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Front Neurol. 2021;12:677551doi: 10.3389/fneur.2021.677551.
Traschütz, A., Reich, S., Adarmes, A. D., Anheim, M., Ashrafi, M. R., Baets, J., Basak, A. N., Bertini, E., Brais, B., Gagnon, C., Gburek-Augustat, J., Hanagasi, H. A., Heinzmann, A., Horvath, R., de Jonghe, P., Kamm, C., Klivenyi, P., Klopstock, T., Minnerop, M., Münchau, A., Renaud, M., Roxburgh, R. H., Santorelli, F. M., Schirinzi, T., Sival, D. A., Timmann, D., Vielhaber, S., Wallner, M., van de Warrenburg, B. P., Zanni, G., Zuchner, S., Klockgether, T., Schüle, R., Schöls, L., & Synofzik, M. (2021). The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Frontiers in neurology, 12677551. https://doi.org/10.3389/fneur.2021.677551
Traschütz, Andreas, et al. "The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias." Frontiers in neurology vol. 12 (2021): 677551. doi: https://doi.org/10.3389/fneur.2021.677551
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L, Synofzik M. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021. PMID: 34248822; PMCID: PMC8267795.
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Autosomal dominant optic atrophy: A novel treatment for .

Molecular therapy. Nucleic acids

Jüschke C, Klopstock T, Catarino CB, Owczarek-Lipska M, Wissinger B, Neidhardt J.
PMID: 34853716
Mol Ther Nucleic Acids. 2021 Oct 21;26:1186-1197. doi: 10.1016/j.omtn.2021.10.019. eCollection 2021 Dec 03.

Autosomal dominant optic atrophy (ADOA) is frequently caused by mutations in the optic atrophy 1 (

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Jüschke C, Klopstock T, Catarino CB, et al. Autosomal dominant optic atrophy: A novel treatment for . Mol Ther Nucleic Acids. 2021;26:1186-1197doi: 10.1016/j.omtn.2021.10.019.
Jüschke, C., Klopstock, T., Catarino, C. B., Owczarek-Lipska, M., Wissinger, B., & Neidhardt, J. (2021). Autosomal dominant optic atrophy: A novel treatment for . Molecular therapy. Nucleic acids, 261186-1197. https://doi.org/10.1016/j.omtn.2021.10.019
Jüschke, Christoph, et al. "Autosomal dominant optic atrophy: A novel treatment for ." Molecular therapy. Nucleic acids vol. 26 (2021): 1186-1197. doi: https://doi.org/10.1016/j.omtn.2021.10.019
Jüschke C, Klopstock T, Catarino CB, Owczarek-Lipska M, Wissinger B, Neidhardt J. Autosomal dominant optic atrophy: A novel treatment for . Mol Ther Nucleic Acids. 2021 Oct 21;26:1186-1197. doi: 10.1016/j.omtn.2021.10.019. eCollection 2021 Dec 03. PMID: 34853716; PMCID: PMC8604756.
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Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.

Frontiers in physiology

D'Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T.
PMID: 25642194
Front Physiol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525. eCollection 2014.

Episodic ataxia type 1 (EA1) is an autosomal dominant K(+) channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia. Episodes can be triggered by emotional or physical stress, startle response, sudden...

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D'Adamo MC, Gallenmüller C, Servettini I, et al. Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. Front Physiol. 2015;5:525doi: 10.3389/fphys.2014.00525.
D'Adamo, M. C., Gallenmüller, C., Servettini, I., Hartl, E., Tucker, S. J., Arning, L., Biskup, S., Grottesi, A., Guglielmi, L., Imbrici, P., Bernasconi, P., Di Giovanni, G., Franciolini, F., Catacuzzeno, L., Pessia, M., & Klopstock, T. (2014). Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. Frontiers in physiology, 5525. https://doi.org/10.3389/fphys.2014.00525
D'Adamo, Maria C, et al. "Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene." Frontiers in physiology vol. 5 (2014): 525. doi: https://doi.org/10.3389/fphys.2014.00525
D'Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T. Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. Front Physiol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525. eCollection 2014. PMID: 25642194; PMCID: PMC4295438.
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Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA).

Frontiers in neurology

Karin I, Büchner B, Gauzy F, Klucken A, Klopstock T.
PMID: 33692746
Front Neurol. 2021 Feb 22;12:642228. doi: 10.3389/fneur.2021.642228. eCollection 2021.

In order to improve clinical care, coordinate research activities and raise awareness for the ultra-orphan Neurodegeneration with Brain Iron Accumulation (NBIA) disorders, a group of NBIA clinicians and researchers, industry partners and patient advocacies from six European countries, Canada...

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Karin I, Büchner B, Gauzy F, et al. Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA). Front Neurol. 2021;12:642228doi: 10.3389/fneur.2021.642228.
Karin, I., Büchner, B., Gauzy, F., Klucken, A., & Klopstock, T. (2021). Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA). Frontiers in neurology, 12642228. https://doi.org/10.3389/fneur.2021.642228
Karin, Ivan, et al. "Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA)." Frontiers in neurology vol. 12 (2021): 642228. doi: https://doi.org/10.3389/fneur.2021.642228
Karin I, Büchner B, Gauzy F, Klucken A, Klopstock T. Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA). Front Neurol. 2021 Feb 22;12:642228. doi: 10.3389/fneur.2021.642228. eCollection 2021. PMID: 33692746; PMCID: PMC7937633.
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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Annals of clinical and translational neurology

Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T.
PMID: 26000322
Ann Clin Transl Neurol. 2015 May;2(5):492-509. doi: 10.1002/acn3.189. Epub 2015 Mar 13.

OBJECTIVE: Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and essential amino acids such as valine. Here, we describe the broad phenotypic spectrum and pathobiochemistry of individuals with...

Cite
Haack TB, Jackson CB, Murayama K, et al. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol. 2015;2(5):492-509doi: 10.1002/acn3.189.
Haack, T. B., Jackson, C. B., Murayama, K., Kremer, L. S., Schaller, A., Kotzaeridou, U., de Vries, M. C., Schottmann, G., Santra, S., Büchner, B., Wieland, T., Graf, E., Freisinger, P., Eggimann, S., Ohtake, A., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Sauer, S., Memari, Y., Kolb-Kokocinski, A., Durbin, R., Hasselmann, O., Cremer, K., Albrecht, B., Wieczorek, D., Engels, H., Hahn, D., Zink, A. M., Alston, C. L., Taylor, R. W., Rodenburg, R. J., Trollmann, R., Sperl, W., Strom, T. M., Hoffmann, G. F., Mayr, J. A., Meitinger, T., Bolognini, R., Schuelke, M., Nuoffer, J. M., Kölker, S., Prokisch, H., & Klopstock, T. (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of clinical and translational neurology, 2(5), 492-509. https://doi.org/10.1002/acn3.189
Haack, Tobias B, et al. "Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement." Annals of clinical and translational neurology vol. 2,5 (2015): 492-509. doi: https://doi.org/10.1002/acn3.189
Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol. 2015 May;2(5):492-509. doi: 10.1002/acn3.189. Epub 2015 Mar 13. PMID: 26000322; PMCID: PMC4435704.
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Puppy sign indicating bilateral dissection of internal carotid artery.

BMJ case reports

Feddersen B, Linn J, Klopstock T.
PMID: 21687272
BMJ Case Rep. 2009;2009:bcr2007115857. doi: 10.1136/bcr.2007.115857. Epub 2009 Feb 18.

No abstract available.

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Feddersen B, Linn J, Klopstock T. Puppy sign indicating bilateral dissection of internal carotid artery. BMJ Case Rep. 2009;2009:bcr2007115857doi: 10.1136/bcr.2007.115857.
Feddersen, B., Linn, J., & Klopstock, T. (2009). Puppy sign indicating bilateral dissection of internal carotid artery. BMJ case reports, 2009bcr2007115857. https://doi.org/10.1136/bcr.2007.115857
Feddersen, Berend, et al. "Puppy sign indicating bilateral dissection of internal carotid artery." BMJ case reports vol. 2009 (2009): bcr2007115857. doi: https://doi.org/10.1136/bcr.2007.115857
Feddersen B, Linn J, Klopstock T. Puppy sign indicating bilateral dissection of internal carotid artery. BMJ Case Rep. 2009;2009:bcr2007115857. doi: 10.1136/bcr.2007.115857. Epub 2009 Feb 18. PMID: 21687272; PMCID: PMC3105930.
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