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Items: 1 to 20 of 327

1.
Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease
Raquel Manzano, Gianni Sorarú, Christopher Grunseich, Pietro Fratta, Emanuela Zuccaro, Maria Pennuto, Carlo Rinaldi
J Neurol Neurosurg Psychiatry. 2018 Aug; 89(8): 808–812. Published online 2018 Jan 20. doi: 10.1136/jnnp-2017-316961
PMCID:
PMC6204939
AbstractArticlePDF–618K
2.
Current Status of Treatment of Spinal and Bulbar Muscular Atrophy
Fumiaki Tanaka, Masahisa Katsuno, Haruhiko Banno, Keisuke Suzuki, Hiroaki Adachi, Gen Sobue
Neural Plast. 2012; 2012: 369284. Published online 2012 Jun 7. doi: 10.1155/2012/369284
PMCID:
PMC3376774
AbstractArticlePDF–581K
3.
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease
Pedro Enrique Jiménez Caballero
Ann Indian Acad Neurol. 2012 Jul-Sep; 15(3): 227–229. doi: 10.4103/0972-2327.99730
PMCID:
PMC3424807
AbstractArticlePDF–478K
4.
Decremental Responses to Repetitive Nerve Stimulation in X-Linked Bulbospinal Muscular Atrophy
Jee Young Kim, Kee Duk Park, Seung-Min Kim, Il Nam Sunwoo
J Clin Neurol. 2013 Jan; 9(1): 32–35. Published online 2013 Jan 3. doi: 10.3988/jcn.2013.9.1.32
PMCID:
PMC3543907
AbstractArticlePDF–603K
5.
Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system
Hirofumi Maruyama, Hiroyuki Morino, Yuishin Izumi, Kouichi Noda, Hideshi Kawakami
Am J Neurodegener Dis. 2013; 2(1): 35–39. Published online 2013 Mar 8.
PMCID:
PMC3601469
AbstractArticlePDF–231K
6.
Enhanced Aggregation of Androgen Receptor in Induced Pluripotent Stem Cell-derived Neurons from Spinal and Bulbar Muscular Atrophy
Yoshihiro Nihei, Daisuke Ito, Yohei Okada, Wado Akamatsu, Takuya Yagi, Takahito Yoshizaki, Hideyuki Okano, Norihiro Suzuki
J Biol Chem. 2013 Mar 22; 288(12): 8043–8052. Published online 2013 Jan 30. doi: 10.1074/jbc.M112.408211
PMCID:
PMC3605623
AbstractArticlePDF–3.5M
7.
Muscle contractility in spinobulbar muscular atrophy
Julia R. Dahlqvist, Sofie T. Oestergaard, Nanna S. Poulsen, Kirsten Lykke Knak, Carsten Thomsen, John Vissing
Sci Rep. 2019; 9: 4680. Published online 2019 Mar 18. doi: 10.1038/s41598-019-41240-y
PMCID:
PMC6423126
AbstractArticlePDF–1.6M
8.
A randomized, placebo-controlled study to evaluate the safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy
Christopher Grunseich, Ram Miller, Therese Swan, David J Glass, Mohamed El Mouelhi, Mara Fornaro, Olivier Petricoul, Igor Vostiar, Ronenn Roubenoff, Matthew N Meriggioli, Angela Kokkinis, Robert D Guber, Maher S Budron, John Vissing, Gianni Soraru, Tahseen Mozaffar, Albert Ludolph, John T Kissel, Kenneth H Fischbeck, the BVS857 Study Group
Lancet Neurol. Author manuscript; available in PMC 2019 Dec 1.
Published in final edited form as: Lancet Neurol. 2018 Dec; 17(12): 1043–1052. Published online 2018 Oct 15. doi: 10.1016/S1474-4422(18)30320-X
PMCID:
PMC6415539
AbstractArticlePDF–681K
9.
Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy
Bilal Malik, Helen Devine, Rickie Patani, Albert R. La Spada, Michael G. Hanna, Linda Greensmith
Sci Rep. 2019; 9: 3539. Published online 2019 Mar 5. doi: 10.1038/s41598-019-40118-3
PMCID:
PMC6401132
AbstractArticlePDF–3.3M
10.
Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of italian patients with spinal-bulbar muscular atrophy
FRANCESCO FRANCINI-PESENTI, GIORGIA QUERIN, CRISTINA MARTINI, SARA MARESO, DAVID SACERDOTI
Acta Myol. 2018 Sep; 37(3): 204–209. Published online 2018 Sep 1.
PMCID:
PMC6390113
AbstractArticlePDF–111K
11.
Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy
Frederick J. Arnold, Anna Pluciennik, Diane E. Merry
Sci Rep. 2019; 9: 119. Published online 2019 Jan 15. doi: 10.1038/s41598-018-36784-4
PMCID:
PMC6333819
AbstractArticlePDF–5.8M
12.
Mechanisms Mediating Spinal and Bulbar Muscular Atrophy: Investigations into Polyglutamine-Expanded Androgen Receptor Function and Dysfunction
Lenore K. Beitel, Carlos Alvarado, Shaza Mokhtar, Miltiadis Paliouras, Mark Trifiro
Front Neurol. 2013; 4: 53. Published online 2013 May 15. doi: 10.3389/fneur.2013.00053
PMCID:
PMC3654311
AbstractArticlePDF–920K
13.
Impaired motoneuronal retrograde transport in two models of SBMA implicates two sites of androgen action
Michael Q. Kemp, Jessica L. Poort, Rehan M. Baqri, Andrew P. Lieberman, S. Marc Breedlove, Kyle E. Miller, Cynthia L. Jordan
Hum Mol Genet. 2011 Nov 15; 20(22): 4475–4490. Published online 2011 Aug 26. doi: 10.1093/hmg/ddr380
PMCID:
PMC3196895
AbstractArticlePDF–445K
14.
Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review
Giorgia Querin, Peter Bede, Veronique Marchand-Pauvert, Pierre-Francois Pradat
Front Neurol. 2018; 9: 844. Published online 2018 Oct 10. doi: 10.3389/fneur.2018.00844
PMCID:
PMC6191472
AbstractArticlePDF–724K
15.
Study protocol for the MEXiletine hydrochloride administration trial: a placebo-controlled, randomised, double-blind, multicentre, crossover study of its efficacy and safety in spinal and bulbar muscular atrophy (MEXPRESS)
Shinichiro Yamada, Atsushi Hashizume, Yasuhiro Hijikata, Tomonori Inagaki, Daisuke Ito, Fumie Kinoshita, Masahiro Nakatochi, Yumiko Kobayashi, Akihiro Hirakawa, Tomohiko Nakamura, Masahisa Katsuno
BMJ Open. 2018; 8(9): e023041. Published online 2018 Sep 11. doi: 10.1136/bmjopen-2018-023041
PMCID:
PMC6144396
AbstractArticlePDF–380K
16.
Clearance of the mutant androgen receptor in motoneuronal models of spinal and bulbar muscular atrophy
Paola Rusmini, Valeria Crippa, Elisa Giorgetti, Alessandra Boncoraglio, Riccardo Cristofani, Serena Carra, Angelo Poletti
Neurobiol Aging. 2013 Nov; 34(11): 2585–2603. doi: 10.1016/j.neurobiolaging.2013.05.026
PMCID:
PMC3748343
AbstractArticle
17.
Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study
S. Marcato, J. R. Kleinbub, G. Querin, E. Pick, I. Martinelli, C. Bertolin, S. Cipolletta, E. Pegoraro, G. Sorarù, A. Palmieri
Sci Rep. 2018; 8: 13627. Published online 2018 Sep 11. doi: 10.1038/s41598-018-32062-5
PMCID:
PMC6134140
AbstractArticlePDF–1.1M
18.
Functional Characterization of SbmA, a Bacterial Inner Membrane Transporter Required for Importing the Antimicrobial Peptide Bac7(1-35)
Giulia Runti, Maria del Carmen Lopez Ruiz, Tatiana Stoilova, Rohanah Hussain, Matthew Jennions, Hassanul G. Choudhury, Monica Benincasa, Renato Gennaro, Konstantinos Beis, Marco Scocchi
J Bacteriol. 2013 Dec; 195(23): 5343–5351. doi: 10.1128/JB.00818-13
PMCID:
PMC3837949
AbstractArticlePDF–953K
19.
Functional and Structural Study of the Dimeric Inner Membrane Protein SbmA
Natalia Corbalan, Giulia Runti, Conrado Adler, Sonia Covaceuszach, Robert C. Ford, Doriano Lamba, Konstantinos Beis, Marco Scocchi, Paula A. Vincent
J Bacteriol. 2013 Dec; 195(23): 5352–5361. doi: 10.1128/JB.00824-13
PMCID:
PMC3837955
AbstractArticlePDF–2.2M
20.
X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon
Camila Nascimento Alves, Tiago Kiyoshi Kitabayashi Braga, Danusa Neves Somensi, Bruno Sérgio Vilhena do Nascimento, José Antônio Santos de Lima, Satomi Fujihara
Einstein (Sao Paulo) 2018; 16(2): eRC4011. Published online 2018 May 25. doi: 10.1590/S1679-45082018RC4011
PMCID:
PMC5995545
AbstractArticlePDF–385K

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