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Select item 112514641.

Association of serum Spp1 levels with disease progression in ALS and SBMA

Woohee Ju, Jae‐Jun Ban, Hye‐ryeong Im, Sun Hi Ko, Jaewoo Seo, Young Gi Min, Yoon‐Ho Hong, Seok‐Jin Choi, Jung‐Joon Sung

Ann Clin Transl Neurol. 2024 Jul; 11(7): 1809–1818. Published online 2024 May 22. doi: 10.1002/acn3.52087

PMCID:: PMC11251464

Abstract Article PDF–786K

Select item 111282102.

Differentially disrupted spinal cord and muscle energy metabolism in spinal and bulbar muscular atrophy

Danielle DeBartolo, Frederick J. Arnold, Yuhong Liu, Elana Molotsky, Hsin-Yao Tang, Diane E. Merry

JCI Insight. 2024 Apr 8; 9(7): e178048. Published online 2024 Mar 7. doi: 10.1172/jci.insight.178048

PMCID:: PMC11128210

Abstract Article PDF–1.4M

Select item 110636593.

More than autophony: a case of Kennedy's disease presenting with autophony as an early clinical manifestation

Hyung-Soo Lee, June Choi, Do-Young Kwon

J Laryngol Otol. 2024 May; 138(5): 584–587. Published online 2023 Oct 5. doi: 10.1017/S002221512300172X

PMCID:: PMC11063659

Abstract Article PDF–224K

Select item 108842904.

Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy

Haruna Akanuma, Suguru Kadowaki, Kazuaki Kanai

Front Neurol. 2024; 15: 1340694. Published online 2024 Feb 9. doi: 10.3389/fneur.2024.1340694

PMCID:: PMC10884290

Abstract Article PDF–1.2M

Select item 108446625.

A systematic review of the association between the age of onset of spinal bulbar muscular atrophy (Kennedy's disease) and the length of CAG repeats in the androgen receptor gene

Dante J. Bellai, Mark G. Rae

eNeurologicalSci. 2024 Mar; 34: 100495. Published online 2024 Jan 28. doi: 10.1016/j.ensci.2024.100495

PMCID:: PMC10844662

Abstract Article PDF–1.4M

Select item 108343306.

Exercise attenuates polyglutamine‐mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy

Tomoki Hirunagi, Hideaki Nakatsuji, Kentaro Sahashi, Mikiyasu Yamamoto, Madoka Iida, Genki Tohnai, Naohide Kondo, Shinichiro Yamada, Ayuka Murakami, Seiya Noda, Hiroaki Adachi, Gen Sobue, Masahisa Katsuno

J Cachexia Sarcopenia Muscle. 2024 Feb; 15(1): 159–172. Published online 2023 Nov 8. doi: 10.1002/jcsm.13344

PMCID:: PMC10834330

Abstract Article PDF–2.3M

Select item 105703327.

The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)

Lorenzo Blasi, Daniele Sabbatini, Andrea Fortuna, Giorgia Querin, Ilaria Martinelli, Sara Vianello, Cinzia Bertolin, Davide Pareyson, Maria Pennuto, Elena Pegoraro, Luca Bello, Gianni Sorarù

Sci Rep. 2023; 13: 17311. Published online 2023 Oct 12. doi: 10.1038/s41598-023-44419-6

PMCID:: PMC10570332

Abstract Article PDF–1.1M

Select item 104943468.

Diversification of plant SUPPRESSOR OF MAX2 1 (SMAX1)-like genes and genome-wide identification and characterization of cotton SMXL gene family

Bin Ma, Jianbo Zhu, Xianzhong Huang

BMC Plant Biol. 2023; 23: 419. Published online 2023 Sep 11. doi: 10.1186/s12870-023-04421-6

PMCID:: PMC10494346

Abstract Article PDF–3.6M

Select item 104542349.

Advancing Epidemiology and Genetic Approaches for the Treatment of Spinal and Bulbar Muscular Atrophy: Focus on Prevalence in the Indigenous Population of Western Canada

Harry Wilton-Clark, Ammar Al-aghbari, Jessica Yang, Toshifumi Yokota

Genes (Basel) 2023 Aug; 14(8): 1634. Published online 2023 Aug 17. doi: 10.3390/genes14081634

PMCID:: PMC10454234

Abstract Article PDF–1.0M

Select item 1043301310.

Increased SIRT3 combined with PARP inhibition rescues motor function of SBMA mice

David R. Garcia Castro, Joseph R. Mazuk, Erin M. Heine, Daniel Simpson, R. Seth Pinches, Caroline Lozzi, Kathryn Hoffman, Phillip Morrin, Dylan Mathis, Maria V. Lebedev, Elyse Nissley, Kang Hoo Han, Tyler Farmer, Diane E. Merry, Qiang Tong, Maria Pennuto, Heather L. Montie

iScience. 2023 Aug 18; 26(8): 107375. Published online 2023 Jul 22. doi: 10.1016/j.isci.2023.107375

PMCID:: PMC10433013

Abstract Article PDF–5.6M

Select item 1042175511.

Neurodegeneration in the retina of motoneuron diseases: a longitudinal study in amyotrophic lateral sclerosis and Kennedy’s disease

Alessandro Miscioscia, Marco Puthenparampil, Lorenzo Blasi, Francesca Rinaldi, Paola Perini, Gianni Sorarù, Paolo Gallo

J Neurol. 2023; 270(9): 4478–4486. Published online 2023 Jun 8. doi: 10.1007/s00415-023-11802-2

PMCID:: PMC10421755

Abstract Article PDF–2.0M

Select item 1028506112.

Long-term effects of the gait treatment using a wearable cyborg hybrid assistive limb in a patient with spinal and bulbar muscular atrophy: a case report with 5 years of follow-up

Kensuke Iijima, Hiroki Watanabe, Yuichi Nakashiro, Yuki Iida, Michio Nonaka, Fumio Moriwaka, Shinsuke Hamada

Front Neurol. 2023; 14: 1143820. Published online 2023 Jun 8. doi: 10.3389/fneur.2023.1143820

PMCID:: PMC10285061

Abstract Article PDF–560K

Select item 1023913313.

X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease

Anastasia Gromova, Byeonggu Cha, Erica M. Robinson, Laura M. Strickland, Nhat Nguyen, Mai K. ElMallah, Constanza J. Cortes, Albert R. La Spada

Acta Neuropathol Commun. 2023; 11: 90. Published online 2023 Jun 2. doi: 10.1186/s40478-023-01582-1

PMCID:: PMC10239133

Abstract Article PDF–1.8M

Select item 1020239114.

Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy

Xia Feng, Xiu-Tang Cheng, Pengli Zheng, Yan Li, Jill Hakim, Shirley Q Zhang, Stacie M Anderson, Kaari Linask, Ryan Prestil, Jizhong Zou, Zu-Hang Sheng, Craig Blackstone

Brain. 2023 Jan; 146(1): 278–294. Published online 2022 Jul 22. doi: 10.1093/brain/awac269

PMCID:: PMC10202391

Abstract Article PDF–1.5M

Select item 1012199715.

Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice

Mariarita Galbiati, Marco Meroni, Marina Boido, Matilde Cescon, Paola Rusmini, Valeria Crippa, Riccardo Cristofani, Margherita Piccolella, Veronica Ferrari, Barbara Tedesco, Elena Casarotto, Marta Chierichetti, Marta Cozzi, Francesco Mina, Maria Elena Cicardi, Silvia Pedretti, Nico Mitro, Anna Caretto, Patrizia Risè, Angelo Sala, Andrew P. Lieberman, Paolo Bonaldo, Maria Pennuto, Alessandro Vercelli, Angelo Poletti

Neurotherapeutics. 2023 Mar; 20(2): 524–545. Published online 2023 Jan 30. doi: 10.1007/s13311-023-01343-x

PMCID:: PMC10121997

Abstract Article PDF–7.9M

Select item 1010124416.

Genotype and clinical phenotype analysis of a Family with Kennedy disease

Ben-Chi Cai, Li-Fan Zhong, Yan-Hui Liu, Zhi-Yan Sui, Qiang Yang, Dan-Ting Zeng, Xi Li, Wen-Di Xu, Tao Chen

Medicine (Baltimore) 2023 Apr 14; 102(15): e33502. Published online 2023 Apr 14. doi: 10.1097/MD.0000000000033502

PMCID:: PMC10101244

Abstract Article PDF–504K

Select item 990253117.

LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice

Ramachandran Prakasam, Angela Bonadiman, Roberta Andreotti, Emanuela Zuccaro, Davide Dalfovo, Caterina Marchioretti, Debasmita Tripathy, Gianluca Petris, Eric N. Anderson, Alice Migazzi, Laura Tosatto, Anna Cereseto, Elena Battaglioli, Gianni Sorarù, Wooi Fang Lim, Carlo Rinaldi, Fabio Sambataro, Naemeh Pourshafie, Christopher Grunseich, Alessandro Romanel, Udai Bhan Pandey, Andrea Contestabile, Giuseppe Ronzitti, Manuela Basso, Maria Pennuto

Nat Commun. 2023; 14: 603. Published online 2023 Feb 6. doi: 10.1038/s41467-023-36186-9

PMCID:: PMC9902531

Abstract Article PDF–7.3M

Select item 966178718.

Kennedy’s disease presented with mastication fatigue combined with positive titin antibody: a case report

Guang Ji, Rui Huang, Xiaomeng Zhou, Cuifang Cao, Qiong Wu, Zhenfei Li, Hui Dong, Xueqin Song, Yaling Liu

BMC Neurol. 2022; 22: 425. Published online 2022 Nov 14. doi: 10.1186/s12883-022-02971-0

PMCID:: PMC9661787

Abstract Article PDF–1.0M

Select item 963962819.

Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial

Shinichiro Yamada, Atsushi Hashizume, Yasuhiro Hijikata, Tomonori Inagaki, Daisuke Ito, Yoshiyuki Kishimoto, Fumie Kinoshita, Akihiro Hirakawa, Shinobu Shimizu, Tomohiko Nakamura, Masahisa Katsuno

Ann Clin Transl Neurol. 2022 Nov; 9(11): 1702–1714. Published online 2022 Oct 8. doi: 10.1002/acn3.51667

PMCID:: PMC9639628

Abstract Article PDF–978K

Select item 958366920.

The role of ubiquitination in spinal and bulbar muscular atrophy

Medha Sengupta, Anna Pluciennik, Diane E. Merry

Front Mol Neurosci. 2022; 15: 1020143. Published online 2022 Oct 6. doi: 10.3389/fnmol.2022.1020143

PMCID:: PMC9583669

Abstract Article PDF–975K

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