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Items: 18

1.
A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report
Jinxin Liu, Xin Wang, Di Huang, Yuna Qi, Lei Xu, Yankun Shao
Medicine (Baltimore) 2024 Apr 19; 103(16): e37874. Published online 2024 Apr 19. doi: 10.1097/MD.0000000000037874
PMCID:
PMC11029984
ArticlePDF–618K
2.
Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review
Yan Chen, Daojing Li, Peng Xu, Aimei Zhang, Xu Chen, Yun Chen
Medicine (Baltimore) 2024 Jan 12; 103(2): e36946. Published online 2024 Jan 12. doi: 10.1097/MD.0000000000036946
PMCID:
PMC10783329
ArticlePDF–584K
3.
Multidisciplinary Management of Rett Syndrome: Twenty Years’ Experience
Sandra Vilvarajan, Madeleine McDonald, Lyndal Douglas, Jessica Newham, Robyn Kirkland, Gloria Tzannes, Diane Tay, John Christodoulou, Susan Thompson, Carolyn Ellaway
Genes (Basel) 2023 Aug; 14(8): 1607. Published online 2023 Aug 11. doi: 10.3390/genes14081607
PMCID:
PMC10454341
ArticlePDF–909K
4.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
Hilde Van Esch, Rita Colnaghi, Kathleen Freson, Petro Starokadomskyy, Andreas Zankl, Liesbeth Backx, Iga Abramowicz, Emily Outwin, Luis Rohena, Claire Faulkner, Gary M. Leong, Ruth A. Newbury-Ecob, Rachel C. Challis, Katrin Õunap, Jacques Jaeken, Eve Seuntjens, Koen Devriendt, Ezra Burstein, Karen J. Low, Mark O’Driscoll
Am J Hum Genet. 2019 May 2; 104(5): 957–967. Published online 2019 Apr 18. doi: 10.1016/j.ajhg.2019.03.006
PMCID:
PMC6506757
ArticlePDF–1.5M
5.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Carlos R. Ferreira, Zhi-Jie Xia, Aurélie Clément, David A. Parry, Mariska Davids, Fulya Taylan, Prashant Sharma, Coleman T. Turgeon, Bernardo Blanco-Sánchez, Bobby G. Ng, Clare V. Logan, Lynne A. Wolfe, Benjamin D. Solomon, Megan T. Cho, Ganka Douglas, Daniel R. Carvalho, Heiko Bratke, Marte Gjøl Haug, Jennifer B. Phillips, Jeremy Wegner, Michael Tiemeyer, Kazuhiro Aoki, Undiagnosed Diseases Network, Scottish Genome Partnership, Ann Nordgren, Anna Hammarsjö, Angela L. Duker, Luis Rohena, Hanne Buciek Hove, Jakob Ek, David Adams, Cynthia J. Tifft, Tito Onyekweli, Tara Weixel, Ellen Macnamara, Kelly Radtke, Zöe Powis, Dawn Earl, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Emma Tham, Kimiyo M. Raymond, John A. Phillips, III, George E. Tiller, William G. Wilson, Rizwan Hamid, May C.V. Malicdan, Gen Nishimura, Giedre Grigelioniene, Andrew Jackson, Monte Westerfield, Michael B. Bober, William A. Gahl, Hudson H. Freeze
Am J Hum Genet. 2018 Oct 4; 103(4): 553–567. Published online 2018 Oct 4. doi: 10.1016/j.ajhg.2018.09.003
PMCID:
PMC6174323
ArticlePDF–2.2M
6.
Regenerative glutamate release in the hippocampus of Rett syndrome model mice
Saju Balakrishnan, Sergej L. Mironov
PLoS One. 2018; 13(9): e0202802. Published online 2018 Sep 26. doi: 10.1371/journal.pone.0202802
PMCID:
PMC6157837
ArticlePDF–5.1M
7.
Rescue of hyperexcitability in hippocampal CA1 neurons from Mecp2 (-/y) mouse through surface potential neutralization
Saju Balakrishnan, Sergej L. Mironov
PLoS One. 2018; 13(4): e0195094. Published online 2018 Apr 5. doi: 10.1371/journal.pone.0195094
PMCID:
PMC5886422
ArticlePDF–10M
8.
The frequency and prognostic effect of TERT promoter mutation in diffuse gliomas
Yujin Lee, Jaemoon Koh, Seong-Ik Kim, Jae Kyung Won, Chul-Kee Park, Seung Hong Choi, Sung-Hye Park
Acta Neuropathol Commun. 2017; 5: 62. Published online 2017 Aug 29. doi: 10.1186/s40478-017-0465-1
PMCID:
PMC5574236
ArticlePDF–3.1M
9.
Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1
Alexandra M. Lopes, Kenneth I. Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J. Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B. Wilfert, Juncheng Dai, Jonathan M. Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E. Hurles, Sergey Moskovtsev, Carole Ober, Darius A. Paduch, Joshua D. Schiffman, Peter N. Schlegel, Mário Sousa, Douglas T. Carrell, Donald F. Conrad
PLoS Genet. 2013 Mar; 9(3): e1003349. Published online 2013 Mar 21. doi: 10.1371/journal.pgen.1003349
PMCID:
PMC3605256
ArticlePDF–968K
10.
RNA-mediated pathogenesis in fragile X-associated disorders
Huiping Tan, He Li, Peng Jin
Neurosci Lett. Author manuscript; available in PMC 2010 Dec 4.
Published in final edited form as: Neurosci Lett. 2009 Dec 4; 466(2): 103–108. Published online 2009 Jul 23. doi: 10.1016/j.neulet.2009.07.053
PMCID:
PMC2767401
ArticlePDF–316K
11.
A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene
Eun-Ha Lee, Mi-Sun Ahn, Jin-Soon Hwang, Kyung-Hwa Ryu, Sun-Jun Kim, Sung-Hwan Kim
J Korean Med Sci. 2006 Oct; 21(5): 800–804. Published online 2006 Oct 31. doi: 10.3346/jkms.2006.21.5.800
PMCID:
PMC2721986
ArticlePDF–107K
12.
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2
A Saxena, D de Lagarde, H Leonard, S L Williamson, V Vasudevan, J Christodoulou, E Thompson, P MacLeod, D Ravine
J Med Genet. 2006 Jun; 43(6): 470–477. Published online 2005 Sep 12. doi: 10.1136/jmg.2005.036244
PMCID:
PMC2593027
ArticlePDF–1.4M
13.
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
E Scala, F Ariani, F Mari, R Caselli, C Pescucci, I Longo, I Meloni, D Giachino, M Bruttini, G Hayek, M Zappella, A Renieri
J Med Genet. 2005 Feb; 42(2): 103–107. doi: 10.1136/jmg.2004.026237
PMCID:
PMC1735977
SummaryPDF–90K
14.
Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.
T C Falik-Zaccai, E Shachak, M Yalon, Z Lis, Z Borochowitz, J N Macpherson, D L Nelson, E E Eichler
Am J Hum Genet. 1997 Jan; 60(1): 103–112.
PMCID:
PMC1712540
SummaryPage BrowsePDF–1.7M
15.
p90 ribosomal S6 kinase 2 exerts a tonic brake on G protein-coupled receptor signaling
Douglas J. Sheffler, Wesley K. Kroeze, Bonnie G. Garcia, Ariel Y. Deutch, Sandra J. Hufeisen, Patrick Leahy, Jens C. Brüning, Bryan L. Roth
Proc Natl Acad Sci U S A. 2006 Mar 21; 103(12): 4717–4722. Published online 2006 Mar 10. doi: 10.1073/pnas.0600585103
PMCID:
PMC1450237
ArticlePDF–3.4M
16.
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
S M Gu, U Orth, A Veske, H Enders, K Klunder, M Schlosser, W Engel, E Schwinger, A Gal
J Med Genet. 1996 Feb; 33(2): 103–106. doi: 10.1136/jmg.33.2.103
PMCID:
PMC1051833
SummaryPage BrowsePDF–752K
17.
Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.
D Wöhrle, U Salat, D Gläser, J Mücke, M Meisel-Stosiek, D Schindler, W Vogel, P Steinbach
J Med Genet. 1998 Feb; 35(2): 103–111. doi: 10.1136/jmg.35.2.103
PMCID:
PMC1051212
SummaryPage BrowsePDF–3.0M
18.
Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome
Bryan E. McGill, Sharyl F. Bundle, Murat B. Yaylaoglu, James P. Carson, Christina Thaller, Huda Y. Zoghbi
Proc Natl Acad Sci U S A. 2006 Nov 28; 103(48): 18267–18272. Published online 2006 Nov 15. doi: 10.1073/pnas.0608702103
PMCID:
PMC1636379
ArticlePDF–1.5M

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