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Items: 1 to 20 of 106

1.
ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene
Aditi Mhaske, K.V. Dileep, Mukesh Kumar, Mukta Poojary, Kavita Pandhare, Kam Y.J. Zhang, Vinod Scaria, B.K. Binukumar
Comput Struct Biotechnol J. 2020; 18: 2347–2356. Published online 2020 Sep 2. doi: 10.1016/j.csbj.2020.08.021
PMCID:
PMC7501406
AbstractArticlePDF–2.1M
2.
Cardiac Findings and Events Observed in an Open-Label Clinical Trial of Tafamidis in Patients with non-Val30Met and non-Val122Ile Hereditary Transthyretin Amyloidosis
Thibaud Damy, Daniel P. Judge, Arnt V. Kristen, Karine Berthet, Huihua Li, Janske Aarts
J Cardiovasc Transl Res. 2015; 8(2): 117–127. Published online 2015 Mar 6. doi: 10.1007/s12265-015-9613-9
PMCID:
PMC4382536
AbstractArticlePDF–543K
3.
Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy
Katy E.S. Barwick, Jane Wright, Saeed Al-Turki, Meriel M. McEntagart, Ajith Nair, Barry Chioza, Ali Al-Memar, Hamid Modarres, Mary M. Reilly, Katherine J. Dick, Alicia M. Ruggiero, Randy D. Blakely, Matt E. Hurles, Andrew H. Crosby
Am J Hum Genet. 2012 Dec 7; 91(6): 1103–1107. doi: 10.1016/j.ajhg.2012.09.019
PMCID:
PMC3516609
AbstractArticlePDF–320K
4.
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease
Robert D.S. Pitceathly, Sinéad M. Murphy, Ellen Cottenie, Annapurna Chalasani, Mary G. Sweeney, Cathy Woodward, Ese E. Mudanohwo, Iain Hargreaves, Simon Heales, John Land, Janice L. Holton, Henry Houlden, Julian Blake, Michael Champion, Frances Flinter, Stephanie A. Robb, Rupert Page, Michael Rose, Jacqueline Palace, Carol Crowe, Cheryl Longman, Michael P. Lunn, Shamima Rahman, Mary M. Reilly, Michael G. Hanna
Neurology. 2012 Sep 11; 79(11): 1145–1154. doi: 10.1212/WNL.0b013e3182698d8d
PMCID:
PMC3525307
AbstractArticlePDF–513K
5.
Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations
Sabine Rudnik-Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul-Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, Laszlo Sztriha, Jaume Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, Peter Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres
Neurology. 2013 Jan 29; 80(5): 438–446. doi: 10.1212/WNL.0b013e31827f0f66
PMCID:
PMC3590055
AbstractArticlePDF–574K
6.
The Cobas AmpliPrep/Cobas TaqMan HCV Test, Version 2.0, Real-Time PCR Assay Accurately Quantifies Hepatitis C Virus Genotype 4 RNA
Stéphane Chevaliez, Magali Bouvier-Alias, Christophe Rodriguez, Alexandre Soulier, Jean-Dominique Poveda, Jean-Michel Pawlotsky
J Clin Microbiol. 2013 Apr; 51(4): 1078–1082. doi: 10.1128/JCM.02004-12
PMCID:
PMC3666793
AbstractArticlePDF–561K
7.
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker, Angelien Heister, Aad Verrips, Seyyed Mohsen Hosseini-Barkooie, Christian Gilissen, Sascha Vermeer, Maartje Pennings, Rowdy Meijer, Margot te Riele, Catharina J.M. Frijns, Oksana Suchowersky, Linda MacLaren, Sabine Rudnik-Schöneborn, Richard J. Sinke, Klaus Zerres, R. Brian Lowry, Henny H. Lemmink, Lutz Garbes, Joris A. Veltman, Helenius J. Schelhaas, Hans Scheffer, Brunhilde Wirth
Am J Hum Genet. 2013 Jun 6; 92(6): 946–954. doi: 10.1016/j.ajhg.2013.04.011
PMCID:
PMC3675237
AbstractArticlePDF–1.4M
8.
Dual Masking of Specific Negative Splicing Regulatory Elements Resulted in Maximal Exon 7 Inclusion of SMN2 Gene
Peng Wen Pao, Keng Boon Wee, Woon Chee Yee, Zacharias Aloysius DwiPramono
Mol Ther. 2014 Apr; 22(4): 854–861. Prepublished online 2013 Dec 9. Published online 2014 Jan 28. doi: 10.1038/mt.2013.276
Correction in:
Mol Ther. 2014 Apr; 22(4): 891.
PMCID:
PMC3982506
AbstractArticlePDF–704K
9.
Transcriptome Profiling of Spinal Muscular Atrophy Motor Neurons Derived from Mouse Embryonic Stem Cells
Miho Maeda, Ashlee W. Harris, Brewster F. Kingham, Casey J. Lumpkin, Lynn M. Opdenaker, Suzanne M. McCahan, Wenlan Wang, Matthew E. R. Butchbach
PLoS One. 2014; 9(9): e106818. Published online 2014 Sep 5. doi: 10.1371/journal.pone.0106818
PMCID:
PMC4156416
AbstractArticlePDF–2.0M
10.
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
Kristien Peeters, Teodora Chamova, Albena Jordanova
Brain. 2014 Nov; 137(11): 2879–2896. Published online 2014 Jun 25. doi: 10.1093/brain/awu169
PMCID:
PMC4208460
AbstractArticlePDF–620K
11.
Inborn errors of copper metabolism
STEPHEN G. KALER
Handb Clin Neurol. Author manuscript; available in PMC 2014 Oct 30.
Published in final edited form as: Handb Clin Neurol. 2013; 113: 1745–1754. doi: 10.1016/B978-0-444-59565-2.00045-9
PMCID:
PMC4214864
AbstractArticlePDF–574K
12.
Homozygous SMN1 Deletions in Unaffected Family Members and Modification of the Phenotype by SMN2
Thomas W. Prior, Kathryn J. Swoboda, H. Denman Scott, Ashley Q. Hejmanowski
Am J Med Genet A. Author manuscript; available in PMC 2015 Mar 4.
Published in final edited form as: Am J Med Genet A. 2004 Oct 15; 0(3): 307–310. doi: 10.1002/ajmg.a.30251
PMCID:
PMC4349519
AbstractArticlePDF–264K
13.
Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III
Galina Yu Zheleznyakova, Anton V Kiselev, Viktor G Vakharlovsky, Mathias Rask-Andersen, Rohit Chavan, Anna A Egorova, Helgi B Schiöth, Vladislav S Baranov
BMC Med Genet. 2011; 12: 96. Published online 2011 Jul 15. doi: 10.1186/1471-2350-12-96
PMCID:
PMC3146920
AbstractArticlePDF–909K
14.
Copy-neutral loss of heterozygosity and chromosome gains and losses are frequent in gastrointestinal stromal tumors
Nelson Lourenço, Zofia Hélias-Rodzewicz, Jean-Baptiste Bachet, Sabrina Brahimi-Adouane, Fabrice Jardin, Jeanne Tran van Nhieu, Frédérique Peschaud, Emmanuel Martin, Alain Beauchet, Frédéric Chibon, Jean-François Emile
Mol Cancer. 2014; 13: 246. Published online 2014 Nov 6. doi: 10.1186/1476-4598-13-246
PMCID:
PMC4417285
AbstractArticlePDF–1.5M
15.
Phenotypic variability of TRPV4 related neuropathies
Teresinha Evangelista, Boglarka Bansagi, Angela Pyle, Helen Griffin, Konstantinos Douroudis, Tuomo Polvikoski, Thalia Antoniadi, Kate Bushby, Volker Straub, Patrick F. Chinnery, Hanns Lochmüller, Rita Horvath
Neuromuscul Disord. 2015 Jun; 25(6): 516–521. doi: 10.1016/j.nmd.2015.03.007
PMCID:
PMC4454778
AbstractArticle
16.
STRATEGIC-1: A multiple-lines, randomized, open-label GERCOR phase III study in patients with unresectable wild-type RAS metastatic colorectal cancer
Benoist Chibaudel, Franck Bonnetain, Christophe Tournigand, Marine Hug de Larauze, Armand de Gramont, Pierre Laurent-Puig, Jérôme Paget, Alexandra Hadengue, Dominique Notelet, Magdalena Benetkiewicz, Thierry André, Aimery de Gramont
BMC Cancer. 2015; 15: 496. Published online 2015 Jul 4. doi: 10.1186/s12885-015-1503-7
PMCID:
PMC4490616
AbstractArticlePDF–806K
17.
Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin-Releasing Hormone Analog
Kazuki Ohuchi, Michinori Funato, Zenichiro Kato, Junko Seki, Chizuru Kawase, Yuya Tamai, Yoko Ono, Yuki Nagahara, Yasuhiro Noda, Tsubasa Kameyama, Shiori Ando, Kazuhiro Tsuruma, Masamitsu Shimazawa, Hideaki Hara, Hideo Kaneko
Stem Cells Transl Med. 2016 Feb; 5(2): 152–163. Published online 2015 Dec 18. doi: 10.5966/sctm.2015-0059
PMCID:
PMC4729546
AbstractArticlePDF–2.3M
18.
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evilä, Peter Hackman, Per-Harald Jonson, Sini Penttilä, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L. Davis, Leigh Waddell, Simran Kaur, Con Yiannikas, Kathryn North, Nigel Clarke, Daniel G. MacArthur, Carolyn M. Sue, Bjarne Udd
Neurology. 2016 Jan 26; 86(4): 391–398. doi: 10.1212/WNL.0000000000002324
Correction in:
Neurology. 2016 Mar 15; 86(11): 1077.
PMCID:
PMC4776089
AbstractArticlePDF–910K
19.
A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2
Yuan Yang, Ling Li
Ital J Pediatr. 2016; 42: 28. Published online 2016 Mar 8. doi: 10.1186/s13052-016-0237-8
PMCID:
PMC4784292
AbstractArticlePDF–913K
20.
Long‐term exercise‐specific neuroprotection in spinal muscular atrophy‐like mice
Farah Chali, Céline Desseille, Léo Houdebine, Evelyne Benoit, Thaïs Rouquet, Bruno Bariohay, Philippe Lopes, Julien Branchu, Bruno Della Gaspera, Claude Pariset, Christophe Chanoine, Frédéric Charbonnier, Olivier Biondi
J Physiol. 2016 Apr 1; 594(7): 1931–1952. Published online 2016 Feb 27. doi: 10.1113/JP271361
PMCID:
PMC4818605
AbstractArticlePDF–2.1M

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