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Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Neurology. Genetics

Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB, Roda RH, Liepert J, Züchner S, Mariotti C, De Jonghe P, Blackstone C, Kruer MC.
PMID: 27606357
Neurol Genet. 2016 Aug 25;2(5):e98. doi: 10.1212/NXG.0000000000000098. eCollection 2016 Oct.

OBJECTIVE: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype-phenotype correlations in patients with homozygous or compound...

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Hirst J, Madeo M, Smets K, et al. Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). Neurol Genet. 2016;2(5):e98doi: 10.1212/NXG.0000000000000098.
Hirst, J., Madeo, M., Smets, K., Edgar, J. R., Schols, L., Li, J., Yarrow, A., Deconinck, T., Baets, J., Van Aken, E., De Bleecker, J., Datiles, M. B., Roda, R. H., Liepert, J., Züchner, S., Mariotti, C., De Jonghe, P., Blackstone, C., & Kruer, M. C. (2016). Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). Neurology. Genetics, 2(5), e98. https://doi.org/10.1212/NXG.0000000000000098
Hirst, Jennifer, et al. "Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)." Neurology. Genetics vol. 2,5 (2016): e98. doi: https://doi.org/10.1212/NXG.0000000000000098
Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB, Roda RH, Liepert J, Züchner S, Mariotti C, De Jonghe P, Blackstone C, Kruer MC. Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). Neurol Genet. 2016 Aug 25;2(5):e98. doi: 10.1212/NXG.0000000000000098. eCollection 2016 Oct. PMID: 27606357; PMCID: PMC5001803.
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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Tremor and other hyperkinetic movements (New York, N.Y.)

Salih MA, Seidahmed MZ, El Khashab HY, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC.
PMID: 26203402
Tremor Other Hyperkinet Mov (N Y). 2015 Jul 09;5:306. doi: 10.7916/D8D21WQ0. eCollection 2015.

BACKGROUND: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes.METHODS: We report a Saudi family with a neurodegenerative course dominated by...

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Salih MA, Seidahmed MZ, El Khashab HY, et al. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor Other Hyperkinet Mov (N Y). 2015;5:306doi: 10.7916/D8D21WQ0.
Salih, M. A., Seidahmed, M. Z., El Khashab, H. Y., Hamad, M. H., Bosley, T. M., Burn, S., Myers, A., Landsverk, M. L., Crotwell, P. L., Bilguvar, K., Mane, S., & Kruer, M. C. (2015). Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor and other hyperkinetic movements (New York, N.Y.), 5306. https://doi.org/10.7916/D8D21WQ0
Salih, Mustafa A, et al. "Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome." Tremor and other hyperkinetic movements (New York, N.Y.) vol. 5 (2015): 306. doi: https://doi.org/10.7916/D8D21WQ0
Salih MA, Seidahmed MZ, El Khashab HY, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor Other Hyperkinet Mov (N Y). 2015 Jul 09;5:306. doi: 10.7916/D8D21WQ0. eCollection 2015. PMID: 26203402; PMCID: PMC4502426.
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Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.

Neurology. Genetics

Masuho I, Fang M, Geng C, Zhang J, Jiang H, Özgul RK, Yılmaz DY, Yalnızoğlu D, Yüksel D, Yarrow A, Myers A, Burn SC, Crotwell PL, Padilla-Lopez S, Dursun A, Martemyanov KA, Kruer MC.
PMID: 27222887
Neurol Genet. 2016 May 12;2(3):e78. doi: 10.1212/NXG.0000000000000078. eCollection 2016 Jun.

No abstract available.

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Masuho I, Fang M, Geng C, et al. Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia. Neurol Genet. 2016;2(3):e78doi: 10.1212/NXG.0000000000000078.
Masuho, I., Fang, M., Geng, C., Zhang, J., Jiang, H., Özgul, R. K., Yılmaz, D. Y., Yalnızoğlu, D., Yüksel, D., Yarrow, A., Myers, A., Burn, S. C., Crotwell, P. L., Padilla-Lopez, S., Dursun, A., Martemyanov, K. A., & Kruer, M. C. (2016). Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia. Neurology. Genetics, 2(3), e78. https://doi.org/10.1212/NXG.0000000000000078
Masuho, Ikuo, et al. "Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia." Neurology. Genetics vol. 2,3 (2016): e78. doi: https://doi.org/10.1212/NXG.0000000000000078
Masuho I, Fang M, Geng C, Zhang J, Jiang H, Özgul RK, Yılmaz DY, Yalnızoğlu D, Yüksel D, Yarrow A, Myers A, Burn SC, Crotwell PL, Padilla-Lopez S, Dursun A, Martemyanov KA, Kruer MC. Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia. Neurol Genet. 2016 May 12;2(3):e78. doi: 10.1212/NXG.0000000000000078. eCollection 2016 Jun. PMID: 27222887; PMCID: PMC4866576.
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Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum.

Journal of neuropathology and experimental neurology

Kinney HC, Poduri AH, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD.
PMID: 27612489
J Neuropathol Exp Neurol. 2016 Oct;75(10):981-997. doi: 10.1093/jnen/nlw075. Epub 2016 Sep 09.

Sudden infant death syndrome (SIDS) and sudden unexplained death in childhood (SUDC) are defined as sudden death in a child remaining unexplained despite autopsy and death scene investigation. They are distinguished from each other by age criteria, i.e. with...

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Kinney HC, Poduri AH, Cryan JB, et al. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016;75(10):981-997doi: 10.1093/jnen/nlw075.
Kinney, H. C., Poduri, A. H., Cryan, J. B., Haynes, R. L., Teot, L., Sleeper, L. A., Holm, I. A., Berry, G. T., Prabhu, S. P., Warfield, S. K., Brownstein, C., Abram, H. S., Kruer, M., Kemp, W. L., Hargitai, B., Gastrang, J., Mena, O. J., Haas, E. A., Dastjerdi, R., Armstrong, D. D., & Goldstein, R. D. (2016). Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. Journal of neuropathology and experimental neurology, 75(10), 981-997. https://doi.org/10.1093/jnen/nlw075
Kinney, Hannah C, et al. "Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum." Journal of neuropathology and experimental neurology vol. 75,10 (2016): 981-997. doi: https://doi.org/10.1093/jnen/nlw075
Kinney HC, Poduri AH, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Oct;75(10):981-997. doi: 10.1093/jnen/nlw075. Epub 2016 Sep 09. PMID: 27612489; PMCID: PMC6281079.
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Showing 1 to 4 of 4 entries