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Items: 1 to 20 of 436

1.
Selected autonomic signs and symptoms as risk markers for phenoconversion and functional dependence in prodromal Parkinson’s disease
Cameron Miller-Patterson, Jesse Y. Hsu, Lana M. Chahine, James F. Morley, Allison W. Willis
Clin Auton Res. Author manuscript; available in PMC 2024 Mar 29.
Published in final edited form as: Clin Auton Res. 2022 Dec; 32(6): 463–476. Published online 2022 Sep 3. doi: 10.1007/s10286-022-00889-8
PMCID:
PMC10979289
ArticlePDF–637K
2.
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson’s Disease Patients: A Case-Control Instrumental Evaluation
Giulia Giannini, Raffaella Minardi, Giorgio Barletta, Ilaria Cani, Annagrazia Cecere, Luca Baldelli, Alessia Fiorentino, Pietro Guaraldi, Luisa Sambati, Sabina Capellari, Pietro Cortelli, Valerio Carelli, Giovanna Calandra-Buonaura
J Parkinsons Dis. 2024; 14(2): 335–346. Prepublished online 2024 Feb 1. Published online 2024 Mar 5. doi: 10.3233/JPD-230334
PMCID:
PMC10977396
ArticlePDF–144K
3.
Evidence of a genetic background predisposing to complex regional pain syndrome type 1
Samiha S Shaikh, Andreas Goebel, Michael C Lee, Michael S Nahorski, Nicholas Shenker, Yunisa Pamela, Ichrak Drissi, Christopher Brown, Gillian Ison, Maliha F Shaikh, Anoop Kuttikat, William A Woods, Abhishek Dixit, Kaitlin Stouffer, Murray CH Clarke, David K Menon, C Geoffrey Woods
J Med Genet. 2024 Feb; 61(2): 163–170. Published online 2023 Oct 10. doi: 10.1136/jmg-2023-109236
PMCID:
PMC10850724
ArticlePDF–1.0M
4.
Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations
Shichao Zhao, Ruofei Lian, Liang Jin, Mengchun Li, Tianming Jia, Falin Xu, Kaixian Du, Lijun Wang, Qiliang Guo, Yan Dong
Epilepsia Open. 2024 Feb; 9(1): 250–257. Published online 2023 Dec 8. doi: 10.1002/epi4.12862
PMCID:
PMC10839330
ArticlePDF–1.9M
5.
Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias
Hannah K Shorrock, Claudia D Lennon, Asmer Aliyeva, Emily E Davey, Cristina C DeMeo, Caroline E Pritchard, Lori Planco, Jose M Velez, Alexandra Mascorro-Huamancaja, Damian S Shin, John D Cleary, J Andrew Berglund
Brain. 2024 Feb; 147(2): 486–504. Published online 2023 Sep 30. doi: 10.1093/brain/awad329
PMCID:
PMC10834251
ArticlePDF–2.1M
6.
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt
Sci Rep. 2024; 14: 570. Published online 2024 Jan 4. doi: 10.1038/s41598-023-51137-6
PMCID:
PMC10766950
ArticlePDF–5.3M
7.
Understanding the Role of CDH4 in Multiple System Atrophy Brain
Finula I. Isik, Jared S. Katzeff, YuHong Fu, Woojin Scott Kim
J Parkinsons Dis. 2023; 13(8): 1303–1311. Prepublished online 2023 Dec 16. Published online 2023 Dec 19. doi: 10.3233/JPD-230298
PMCID:
PMC10741323
ArticlePDF–490K
8.
Association between systolic blood pressure and low-density lipoprotein cholesterol with coronary heart disease according to age
Nelson Wang, Rima Mustafa, Verena Zuber, Anthony Rodgers, Abbas Dehghan
PLoS One. 2023; 18(12): e0295004. Published online 2023 Dec 20. doi: 10.1371/journal.pone.0295004
PMCID:
PMC10732424
ArticlePDF–719K
9.
A study of post exercise hypotension in normotensive offspring of hypertensives after acute exercise
Neha Jain, Mona Bedi, V.P. Varshney
Indian J Med Res. 2023 Sep; 158(3): 311–316. Published online 2023 Sep 16. doi: 10.4103/ijmr.ijmr_2952_21
PMCID:
PMC10720957
ArticlePDF–912K
10.
The molecular spectrum of amyloid‐beta (Aβ) in neurodegenerative diseases beyond Alzheimer's disease
Shojiro Ichimata, Koji Yoshida, Jun Li, Ekaterina Rogaeva, Anthony E. Lang, Gabor G. Kovacs
Brain Pathol. 2024 Jan; 34(1): e13210. Published online 2023 Aug 31. doi: 10.1111/bpa.13210
PMCID:
PMC10711260
ArticlePDF–11M
11.
α-Synuclein emulsifies TDP-43 prion-like domain—RNA liquid droplets to promote heterotypic amyloid fibrils
Shailendra Dhakal, Malay Mondal, Azin Mirzazadeh, Siddhartha Banerjee, Ayanjeet Ghosh, Vijayaraghavan Rangachari
Commun Biol. 2023; 6: 1227. Published online 2023 Dec 5. doi: 10.1038/s42003-023-05608-1
Correction in:
Commun Biol. 2024; 7: 74.
PMCID:
PMC10697960
ArticlePDF–9.5M
12.
Height, weight, and body mass index in patients with familial dysautonomia
Maria L. Cotrina, Barr Morgenstein, Miguel Perez, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann
PLoS One. 2023; 18(11): e0293800. Published online 2023 Nov 9. doi: 10.1371/journal.pone.0293800
PMCID:
PMC10635437
ArticlePDF–3.3M
13.
Unveiling the role of cerebellar alterations in the autonomic nervous system: a systematic review of autonomic dysfunction in spinocerebellar ataxias
Nicole Urbini, Libera Siciliano, Giusy Olivito, Maria Leggio
J Neurol. 2023; 270(12): 5756–5772. Published online 2023 Sep 26. doi: 10.1007/s00415-023-11993-8
PMCID:
PMC10632228
ArticlePDF–1.0M
14.
Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators
Anastasia Schultz, Shun-Yun Cheng, Emily Kirchner, Stephanann Costello, Heini Miettinen, Marta Chaverra, Colin King, Lynn George, Xin Zhao, Jana Narasimhan, Marla Weetall, Susan Slaugenhaupt, Elisabetta Morini, Claudio Punzo, Frances Lefcort
Sci Rep. 2023; 13: 18600. Published online 2023 Oct 30. doi: 10.1038/s41598-023-45376-w
PMCID:
PMC10616160
ArticlePDF–4.4M
15.
Beyond Strains: Molecular Diversity in Alpha-Synuclein at the Center of Disease Heterogeneity
Marcelina J. Wojewska, Maria Otero-Jimenez, Jose Guijarro-Nuez, Javier Alegre-Abarrategui
Int J Mol Sci. 2023 Sep; 24(17): 13199. Published online 2023 Aug 25. doi: 10.3390/ijms241713199
PMCID:
PMC10487421
ArticlePDF–1.1M
16.
α-Synuclein-carrying astrocytic extracellular vesicles in Parkinson pathogenesis and diagnosis
Pan Wang, Guoyu Lan, Bin Xu, Zhenwei Yu, Chen Tian, Xia Lei, Wassilios G. Meissner, Tao Feng, Ying Yang, Jing Zhang
Transl Neurodegener. 2023; 12: 40. Published online 2023 Aug 25. doi: 10.1186/s40035-023-00372-y
PMCID:
PMC10463943
ArticlePDF–13M
17.
PolyQ Database—an integrated database on polyglutamine diseases
Bernardo Estevam, Carlos A Matos, Clévio Nóbrega
Database (Oxford) 2023; 2023: baad060. Published online 2023 Aug 18. doi: 10.1093/database/baad060
PMCID:
PMC10440501
ArticlePDF–2.5M
18.
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family
Jan Fagius, Joakim Klar, Niklas Dahl
Clin Auton Res. 2023; 33(4): 421–432. Published online 2023 Jul 17. doi: 10.1007/s10286-023-00963-9
PMCID:
PMC10439023
ArticlePDF–946K
19.
Ataxias: Hereditary, Acquired, and Reversible Etiologies
Chi-Ying R. Lin, Sheng-Han Kuo
Semin Neurol. Author manuscript; available in PMC 2023 Jul 19.
Published in final edited form as: Semin Neurol. 2023 Feb; 43(1): 48–64. Published online 2023 Feb 24. doi: 10.1055/s-0043-1763511
PMCID:
PMC10354687
ArticlePDF–733K
20.
Reduced slow-wave activity and autonomic dysfunction during sleep precede cognitive deficits in Alzheimer’s disease transgenic mice
Chieh-Wen Chen, Yam-Ting Kwok, Yu-Ting Cheng, Yu-Shan Huang, Terry B. J. Kuo, Cheng-Han Wu, Pei-Jing Du, Albert C. Yang, Cheryl C. H. Yang
Sci Rep. 2023; 13: 11231. Published online 2023 Jul 11. doi: 10.1038/s41598-023-38214-6
PMCID:
PMC10336117
ArticlePDF–2.3M

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