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The experience of agency: an interplay between prediction and postdiction.

Frontiers in psychology

Synofzik M, Vosgerau G, Voss M.
PMID: 23508565
Front Psychol. 2013 Mar 15;4:127. doi: 10.3389/fpsyg.2013.00127. eCollection 2013.

The experience of agency, i.e., the registration that I am the initiator of my actions, is a basic and constant underpinning of our interaction with the world. Whereas several accounts have underlined predictive processes as the central mechanism (e.g.,...

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Synofzik M, Vosgerau G, Voss M. The experience of agency: an interplay between prediction and postdiction. Front Psychol. 2013;4:127doi: 10.3389/fpsyg.2013.00127.
Synofzik, M., Vosgerau, G., & Voss, M. (2013). The experience of agency: an interplay between prediction and postdiction. Frontiers in psychology, 4127. https://doi.org/10.3389/fpsyg.2013.00127
Synofzik, Matthis, et al. "The experience of agency: an interplay between prediction and postdiction." Frontiers in psychology vol. 4 (2013): 127. doi: https://doi.org/10.3389/fpsyg.2013.00127
Synofzik M, Vosgerau G, Voss M. The experience of agency: an interplay between prediction and postdiction. Front Psychol. 2013 Mar 15;4:127. doi: 10.3389/fpsyg.2013.00127. eCollection 2013. PMID: 23508565; PMCID: PMC3597983.
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AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia.

Molecular genetics & genomic medicine

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schöls L, Bauer P.
PMID: 25333062
Mol Genet Genomic Med. 2014 Sep;2(5):379-82. doi: 10.1002/mgg3.87. Epub 2014 May 25.

Hereditary spastic paraplegias (HSP) constitute a rare and highly heterogeneous group of neurodegenerative disorders, defined clinically by progressive lower limb spasticity and pyramidal weakness. Autosomal recessive HSP as well as sporadic cases present a significant diagnostic challenge. Mutations in...

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Schlipf NA, Schüle R, Klimpe S, et al. AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Mol Genet Genomic Med. 2014;2(5):379-82doi: 10.1002/mgg3.87.
Schlipf, N. A., Schüle, R., Klimpe, S., Karle, K. N., Synofzik, M., Wolf, J., Riess, O., Schöls, L., & Bauer, P. (2014). AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Molecular genetics & genomic medicine, 2(5), 379-82. https://doi.org/10.1002/mgg3.87
Schlipf, Nina A, et al. "AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia." Molecular genetics & genomic medicine vol. 2,5 (2014): 379-82. doi: https://doi.org/10.1002/mgg3.87
Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schöls L, Bauer P. AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Mol Genet Genomic Med. 2014 Sep;2(5):379-82. doi: 10.1002/mgg3.87. Epub 2014 May 25. PMID: 25333062; PMCID: PMC4190872.
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Electrodes in the brain--ethical criteria for research and treatment with deep brain stimulation for neuropsychiatric disorders.

Brain stimulation

Synofzik M, Schlaepfer TE.
PMID: 21255750
Brain Stimul. 2011 Jan;4(1):7-16. doi: 10.1016/j.brs.2010.03.002. Epub 2010 Mar 21.

BACKGROUND: Deep brain stimulation (DBS) has been used for neuropsychiatric disorders in clinical and research settings for almost 50 years now. Recent evidence demonstrates some efficacy in treating obsessive-compulsive disorder and major depression in patients refractory to other treatment...

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Synofzik M, Schlaepfer TE. Electrodes in the brain--ethical criteria for research and treatment with deep brain stimulation for neuropsychiatric disorders. Brain Stimul. 2010;4(1):7-16doi: 10.1016/j.brs.2010.03.002.
Synofzik, M., & Schlaepfer, T. E. (2011). Electrodes in the brain--ethical criteria for research and treatment with deep brain stimulation for neuropsychiatric disorders. Brain stimulation, 4(1), 7-16. https://doi.org/10.1016/j.brs.2010.03.002
Synofzik, Matthis, and Schlaepfer, Thomas E. "Electrodes in the brain--ethical criteria for research and treatment with deep brain stimulation for neuropsychiatric disorders." Brain stimulation vol. 4,1 (2011): 7-16. doi: https://doi.org/10.1016/j.brs.2010.03.002
Synofzik M, Schlaepfer TE. Electrodes in the brain--ethical criteria for research and treatment with deep brain stimulation for neuropsychiatric disorders. Brain Stimul. 2011 Jan;4(1):7-16. doi: 10.1016/j.brs.2010.03.002. Epub 2010 Mar 21. PMID: 21255750.
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

American journal of human genetics

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.
PMID: 31173719
Am J Hum Genet. 2019 Jun 06;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009.

No abstract available.

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Farazi Fard MA, Rebelo AP, Buglo E, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. Am J Hum Genet. 2019;104(6):1251doi: 10.1016/j.ajhg.2019.05.009.
Farazi Fard, M. A., Rebelo, A. P., Buglo, E., Nemati, H., Dastsooz, H., Gehweiler, I., Reich, S., Reichbauer, J., Quintáns, B., Ordóñez-Ugalde, A., Cortese, A., Courel, S., Abreu, L., Powell, E., Danzi, M. C., Martuscelli, N. B., Bis-Brewer, D. M., Tao, F., Zarei, F., Habibzadeh, P., Yavarian, M., Modarresi, F., Silawi, M., Tabatabaei, Z., Yousefi, M., Farpour, H. R., Kessler, C., Mangold, E., Kobeleva, X., Tournev, I., Chamova, T., Mueller, A. J., Haack, T. B., Tarnopolsky, M., Gan-Or, Z., Rouleau, G. A., Synofzik, M., Sobrido, M. J., Jordanova, A., Schüle, R., Zuchner, S., & Faghihi, M. A. (2019). Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American journal of human genetics, 104(6), 1251. https://doi.org/10.1016/j.ajhg.2019.05.009
Farazi Fard, Mohammad Ali, et al. "Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia." American journal of human genetics vol. 104,6 (2019): 1251. doi: https://doi.org/10.1016/j.ajhg.2019.05.009
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. Am J Hum Genet. 2019 Jun 06;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. PMID: 31173719; PMCID: PMC6557723.
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Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

European journal of human genetics : EJHG

Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H.
PMID: 34385672
Eur J Hum Genet. 2021 Sep;29(9):1459-1461. doi: 10.1038/s41431-021-00936-4.

No abstract available.

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Zurek B, Ellwanger K, Vissers LELM, et al. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021;29(9):1459-1461doi: 10.1038/s41431-021-00936-4.
Zurek, B., Ellwanger, K., Vissers, L. E. L. M., Schüle, R., Synofzik, M., Töpf, A., de Voer, R. M., Laurie, S., Matalonga, L., Gilissen, C., Ossowski, S., 't Hoen, P. A. C., Vitobello, A., Schulze-Hentrich, J. M., Riess, O., Brunner, H. G., Brookes, A. J., Rath, A., Bonne, G., Gumus, G., Verloes, A., Hoogerbrugge, N., Evangelista, T., Harmuth, T., Swertz, M., Spalding, D., Hoischen, A., Beltran, S., Graessner, H. (2021). Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. European journal of human genetics : EJHG, 29(9), 1459-1461. https://doi.org/10.1038/s41431-021-00936-4
Zurek, Birte, et al. "Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases." European journal of human genetics : EJHG vol. 29,9 (2021): 1459-1461. doi: https://doi.org/10.1038/s41431-021-00936-4
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021 Sep;29(9):1459-1461. doi: 10.1038/s41431-021-00936-4. PMID: 34385672; PMCID: PMC8440583.
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Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study.

Alzheimer's & dementia (Amsterdam, Netherlands)

Poos JM, Russell LL, Peakman G, Bocchetta M, Greaves CV, Jiskoot LC, van der Ende EL, Seelaar H, Papma JM, van den Berg E, Pijnenburg YAL, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia C, Finger E, Vandenberghe R, de Medonça A, Tagliavini F, Butler CR, Santana I, Ber IL, Gerhard A, Ducharme S, Levin J, Danek A, Otto M, Sorbi S, Pasquier F, van Swieten JC, Rohrer JD.
PMID: 34027016
Alzheimers Dement (Amst). 2021 May 13;13(1):e12185. doi: 10.1002/dad2.12185. eCollection 2021.

INTRODUCTION: We aimed to assess episodic memory in genetic frontotemporal dementia (FTD) with the Free and Cued Selective Reminding Test (FCSRT).METHODS: The FCSRT was administered in 417 presymptomatic and symptomatic mutation carriers (181 chromosome 9 open reading frame 72...

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Poos JM, Russell LL, Peakman G, et al. Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study. Alzheimers Dement (Amst). 2021;13(1):e12185doi: 10.1002/dad2.12185.
Poos, J. M., Russell, L. L., Peakman, G., Bocchetta, M., Greaves, C. V., Jiskoot, L. C., van der Ende, E. L., Seelaar, H., Papma, J. M., van den Berg, E., Pijnenburg, Y. A. L., Borroni, B., Sanchez-Valle, R., Moreno, F., Laforce, R., Graff, C., Synofzik, M., Galimberti, D., Rowe, J. B., Masellis, M., Tartaglia, C., Finger, E., Vandenberghe, R., de Medonça, A., Tagliavini, F., Butler, C. R., Santana, I., Ber, I. L., Gerhard, A., Ducharme, S., Levin, J., Danek, A., Otto, M., Sorbi, S., Pasquier, F., van Swieten, J. C., Rohrer, J. D. (2021). Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study. Alzheimer's & dementia (Amsterdam, Netherlands), 13(1), e12185. https://doi.org/10.1002/dad2.12185
Poos, Jackie M, et al. "Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study." Alzheimer's & dementia (Amsterdam, Netherlands) vol. 13,1 (2021): e12185. doi: https://doi.org/10.1002/dad2.12185
Poos JM, Russell LL, Peakman G, Bocchetta M, Greaves CV, Jiskoot LC, van der Ende EL, Seelaar H, Papma JM, van den Berg E, Pijnenburg YAL, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia C, Finger E, Vandenberghe R, de Medonça A, Tagliavini F, Butler CR, Santana I, Ber IL, Gerhard A, Ducharme S, Levin J, Danek A, Otto M, Sorbi S, Pasquier F, van Swieten JC, Rohrer JD. Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study. Alzheimers Dement (Amst). 2021 May 13;13(1):e12185. doi: 10.1002/dad2.12185. eCollection 2021. PMID: 34027016; PMCID: PMC8116844.
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Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.

Movement disorders : official journal of the Movement Disorder Society

Hengel H, Martus P, Faber J, Garcia-Moreno H, Solanky N, Giunti P, Klockgether T, Reetz K, van de Warrenburg BP, Pereira de Almeida L, Santana MM, Januário C, Silva P, Thieme A, Infante J, de Vries J, Lima M, Ferreira AF, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M, Schöls L.
PMID: 34713931
Mov Disord. 2021 Oct 29; doi: 10.1002/mds.28844. Epub 2021 Oct 29.

BACKGROUND: Lifestyle could influence the course of hereditary ataxias, but representative data are missing.OBJECTIVE: The objective of this study was to characterize lifestyle in spinocerebellar ataxia type 3 (SCA3) and investigate possible associations with disease parameters.METHODS: In a prospective...

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Hengel H, Martus P, Faber J, et al. Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity. Mov Disord. 2021;doi: 10.1002/mds.28844.
Hengel, H., Martus, P., Faber, J., Garcia-Moreno, H., Solanky, N., Giunti, P., Klockgether, T., Reetz, K., van de Warrenburg, B. P., Pereira de Almeida, L., Santana, M. M., Januário, C., Silva, P., Thieme, A., Infante, J., de Vries, J., Lima, M., Ferreira, A. F., Bushara, K., Jacobi, H., Onyike, C., Schmahmann, J. D., Hübener-Schmid, J., Synofzik, M., & Schöls, L. (2021). Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity. Movement disorders : official journal of the Movement Disorder Society, . https://doi.org/10.1002/mds.28844
Hengel, Holger, et al. "Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity." Movement disorders : official journal of the Movement Disorder Society vol. (2021). doi: https://doi.org/10.1002/mds.28844
Hengel H, Martus P, Faber J, Garcia-Moreno H, Solanky N, Giunti P, Klockgether T, Reetz K, van de Warrenburg BP, Pereira de Almeida L, Santana MM, Januário C, Silva P, Thieme A, Infante J, de Vries J, Lima M, Ferreira AF, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M, Schöls L. Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity. Mov Disord. 2021 Oct 29; doi: 10.1002/mds.28844. Epub 2021 Oct 29. PMID: 34713931.
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

European journal of human genetics : EJHG

Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H.
PMID: 34075208
Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 01.

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives...

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Zurek B, Ellwanger K, Vissers LELM, et al. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021;29(9):1325-1331doi: 10.1038/s41431-021-00859-0.
Zurek, B., Ellwanger, K., Vissers, L. E. L. M., Schüle, R., Synofzik, M., Töpf, A., de Voer, R. M., Laurie, S., Matalonga, L., Gilissen, C., Ossowski, S., 't Hoen, P. A. C., Vitobello, A., Schulze-Hentrich, J. M., Riess, O., Brunner, H. G., Brookes, A. J., Rath, A., Bonne, G., Gumus, G., Verloes, A., Hoogerbrugge, N., Evangelista, T., Harmuth, T., Swertz, M., Spalding, D., Hoischen, A., Beltran, S., Graessner, H. (2021). Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. European journal of human genetics : EJHG, 29(9), 1325-1331. https://doi.org/10.1038/s41431-021-00859-0
Zurek, Birte, et al. "Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases." European journal of human genetics : EJHG vol. 29,9 (2021): 1325-1331. doi: https://doi.org/10.1038/s41431-021-00859-0
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 01. PMID: 34075208; PMCID: PMC8440542.
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Delineating .

Neurology. Genetics

Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T.
PMID: 32042921
Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.

OBJECTIVE: To delineate the phenotypic and genotypic spectrum in carriers of mitochondrial METHODS: We analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Europe, USA, Japan, and China.RESULTS:...

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Stendel C, Neuhofer C, Floride E, et al. Delineating . Neurol Genet. 2020;6(1):e393doi: 10.1212/NXG.0000000000000393.
Stendel, C., Neuhofer, C., Floride, E., Yuqing, S., Ganetzky, R. D., Park, J., Freisinger, P., Kornblum, C., Kleinle, S., Schöls, L., Distelmaier, F., Stettner, G. M., Büchner, B., Falk, M. J., Mayr, J. A., Synofzik, M., Abicht, A., Haack, T. B., Prokisch, H., Wortmann, S. B., Murayama, K., Fang, F., Klopstock, T. (2020). Delineating . Neurology. Genetics, 6(1), e393. https://doi.org/10.1212/NXG.0000000000000393
Stendel, Claudia, et al. "Delineating ." Neurology. Genetics vol. 6,1 (2020): e393. doi: https://doi.org/10.1212/NXG.0000000000000393
Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T. Delineating . Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb. PMID: 32042921; PMCID: PMC6975175.
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Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study.

Journal of neurology, neurosurgery, and psychiatry

Öijerstedt L, Andersson C, Jelic V, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonca A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Frisoni G, Ghidoni R, Sorbi S, Rohrer JD, Graff C.
PMID: 34408008
J Neurol Neurosurg Psychiatry. 2021 Aug 18; doi: 10.1136/jnnp-2021-327005. Epub 2021 Aug 18.

No abstract available.

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Öijerstedt L, Andersson C, Jelic V, et al. Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study. J Neurol Neurosurg Psychiatry. 2021;doi: 10.1136/jnnp-2021-327005.
Öijerstedt, L., Andersson, C., Jelic, V., van Swieten, J. C., Jiskoot, L. C., Seelaar, H., Borroni, B., Sanchez-Valle, R., Moreno, F., Laforce, R., Synofzik, M., Galimberti, D., Rowe, J. B., Masellis, M., Tartaglia, M. C., Finger, E., Vandenberghe, R., de Mendonca, A., Tagliavini, F., Santana, I., Ducharme, S., Butler, C. R., Gerhard, A., Levin, J., Danek, A., Otto, M., Frisoni, G., Ghidoni, R., Sorbi, S., Rohrer, J. D., Graff, C. (2021). Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study. Journal of neurology, neurosurgery, and psychiatry, . https://doi.org/10.1136/jnnp-2021-327005
Öijerstedt, Linn, et al. "Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study." Journal of neurology, neurosurgery, and psychiatry vol. (2021). doi: https://doi.org/10.1136/jnnp-2021-327005
Öijerstedt L, Andersson C, Jelic V, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonca A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Frisoni G, Ghidoni R, Sorbi S, Rohrer JD, Graff C. Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study. J Neurol Neurosurg Psychiatry. 2021 Aug 18; doi: 10.1136/jnnp-2021-327005. Epub 2021 Aug 18. PMID: 34408008.
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Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Frontiers in genetics

Habibzadeh P, Tabatabaei Z, Inaloo S, Nashatizadeh MM, Synofzik M, Ostovan VR, Faghihi MA.
PMID: 33414805
Front Genet. 2020 Dec 22;11:585136. doi: 10.3389/fgene.2020.585136. eCollection 2020.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the

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Habibzadeh P, Tabatabaei Z, Inaloo S, et al. Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Front Genet. 2020;11:585136doi: 10.3389/fgene.2020.585136.
Habibzadeh, P., Tabatabaei, Z., Inaloo, S., Nashatizadeh, M. M., Synofzik, M., Ostovan, V. R., & Faghihi, M. A. (2020). Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Frontiers in genetics, 11585136. https://doi.org/10.3389/fgene.2020.585136
Habibzadeh, Parham, et al. "Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." Frontiers in genetics vol. 11 (2020): 585136. doi: https://doi.org/10.3389/fgene.2020.585136
Habibzadeh P, Tabatabaei Z, Inaloo S, Nashatizadeh MM, Synofzik M, Ostovan VR, Faghihi MA. Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Front Genet. 2020 Dec 22;11:585136. doi: 10.3389/fgene.2020.585136. eCollection 2020. PMID: 33414805; PMCID: PMC7784631.
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Natural History of Polymerase Gamma-Related Ataxia.

Movement disorders : official journal of the Movement Disorder Society

Bender F, Timmann D, van de Warrenburg BP, Adarmes-Gómez AD, Bender B, Thieme A, Synofzik M, Schöls L.
PMID: 34288125
Mov Disord. 2021 Nov;36(11):2642-2652. doi: 10.1002/mds.28713. Epub 2021 Jul 20.

BACKGROUND: Mutations in the mitochondrial DNA polymerase gamma are causing a wide phenotypic spectrum including ataxia as one of the most common presentations.OBJECTIVE: The objective of this study was to determine the course of disease of polymerase gamma-related ataxia.METHODS:...

Cite
Bender F, Timmann D, van de Warrenburg BP, et al. Natural History of Polymerase Gamma-Related Ataxia. Mov Disord. 2021;36(11):2642-2652doi: 10.1002/mds.28713.
Bender, F., Timmann, D., van de Warrenburg, B. P., Adarmes-Gómez, A. D., Bender, B., Thieme, A., Synofzik, M., & Schöls, L. (2021). Natural History of Polymerase Gamma-Related Ataxia. Movement disorders : official journal of the Movement Disorder Society, 36(11), 2642-2652. https://doi.org/10.1002/mds.28713
Bender, Friedemann, et al. "Natural History of Polymerase Gamma-Related Ataxia." Movement disorders : official journal of the Movement Disorder Society vol. 36,11 (2021): 2642-2652. doi: https://doi.org/10.1002/mds.28713
Bender F, Timmann D, van de Warrenburg BP, Adarmes-Gómez AD, Bender B, Thieme A, Synofzik M, Schöls L. Natural History of Polymerase Gamma-Related Ataxia. Mov Disord. 2021 Nov;36(11):2642-2652. doi: 10.1002/mds.28713. Epub 2021 Jul 20. PMID: 34288125.
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