PMC Articles for MedGen (Select 1379865) - PMC

Select item 104496891.

Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot

Enza Ferrero, Eleonora Di Gregorio, Marta Ferrero, Erika Ortolan, Young-Ah Moon, Antonella Di Campli, Lisa Pavinato, Cecilia Mancini, Debasmita Tripathy, Marta Manes, Eriola Hoxha, Chiara Costanzi, Elisa Pozzi, Matteo Rossi Sebastiano, Nico Mitro, Filippo Tempia, Donatella Caruso, Barbara Borroni, Manuela Basso, Michele Sallese, Alfredo Brusco

Hum Genet. 2023; 142(8): 1055–1076. Published online 2023 May 18. doi: 10.1007/s00439-023-02572-y

PMCID:: PMC10449689

Abstract Article PDF–5.4M

Select item 103767382.

Quantitative Characterization of Gait Patterns in Individuals with Spinocerebellar Ataxia 38

Massimiliano Pau, Micaela Porta, Chiara Pau, Paolo Tacconi, Angela Sanna

Bioengineering (Basel) 2023 Jul; 10(7): 788. Published online 2023 Jul 1. doi: 10.3390/bioengineering10070788

PMCID:: PMC10376738

Abstract Article PDF–1.2M

Select item 93257953.

Therapeutic Use of Cerebellar Intermittent Theta Burst Stimulation (iTBS) in a Sardinian Family Affected by Spinocerebellar Ataxia 38 (SCA 38)

Angela Sanna, Paolo Follesa, Paolo Tacconi, Mariangela Serra, Maria Giuseppina Pisu, Viola Cocco, Michela Figorilli, Giovanni Defazio, Monica Puligheddu

Cerebellum. 2022; 21(4): 623–631. Published online 2021 Aug 19. doi: 10.1007/s12311-021-01313-z

PMCID:: PMC9325795

Abstract Article PDF–1.3M

Select item 56988024.

Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38

Marta Manes, Antonella Alberici, Eleonora Di Gregorio, Loredana Boccone, Enrico Premi, Nico Mitro, Maria Pia Pasolini, Claudia Pani, Barbara Paghera, Daniela Perani, Laura Orsi, Chiara Costanzi, Marta Ferrero, Adele Zoppo, Filippo Tempia, Donatella Caruso, Mario Grassi, Alessandro Padovani, Alfredo Brusco, Barbara Borroni

Ann Neurol. 2017 Oct; 82(4): 615–621. Published online 2017 Oct 22. doi: 10.1002/ana.25059

PMCID:: PMC5698802

Abstract Article PDF–272K

Select item 49254645.

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)

Barbara Borroni, Eleonora Di Gregorio, Laura Orsi, Giovanna Vaula, Chiara Costanzi, Filippo Tempia, Nico Mitro, Donatella Caruso, Marta Manes, Lorenzo Pinessi, Alessandro Padovani, Alfredo Brusco, Loredana Boccone

Parkinsonism Relat Disord. 2016 Jul; 28: 80–86. doi: 10.1016/j.parkreldis.2016.04.030

PMCID:: PMC4925464

Abstract Article

Select item 41294086.

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Nicola Lo Buono, Neftj Ragusa, Cecilia Mancini, Marion Gaussen, Alessandro Calcia, Nico Mitro, Eriola Hoxha, Isabella Mura, Domenico A. Coviello, Young-Ah Moon, Christelle Tesson, Giovanna Vaula, Philippe Couarch, Laura Orsi, Eleonora Duregon, Mauro Giulio Papotti, Jean-François Deleuze, Jean Imbert, Chiara Costanzi, Alessandro Padovani, Paola Giunti, Marcel Maillet-Vioud, Alexandra Durr, Alexis Brice, Filippo Tempia, Ada Funaro, Loredana Boccone, Donatella Caruso, Giovanni Stevanin, Alfredo Brusco

Am J Hum Genet. 2014 Aug 7; 95(2): 209–217. doi: 10.1016/j.ajhg.2014.07.001

PMCID:: PMC4129408

Abstract Article PDF–2.6M

Select item 85439407.

Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study

Kokoro Ozaki, Takashi Irioka, Toshiki Uchihara, Akane Yamada, Ayako Nakamura, Takamasa Majima, Susumu Igarashi, Hiroshi Shintaku, Mayumi Yakeishi, Yukio Tsuura, Yasushi Okazaki, Kinya Ishikawa, Takanori Yokota

Acta Neuropathol Commun. 2021; 9: 172. Published online 2021 Oct 24. doi: 10.1186/s40478-021-01272-w

PMCID:: PMC8543940

Abstract Article PDF–3.0M

Select item 47687198.

Desaturase and elongase limiting endogenous long chain polyunsaturated fatty acid biosynthesis

Ji Yao Zhang, Kumar S.D. Kothapalli, J. Thomas Brenna

Curr Opin Clin Nutr Metab Care. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Curr Opin Clin Nutr Metab Care. 2016 Mar; 19(2): 103–110. doi: 10.1097/MCO.0000000000000254

PMCID:: PMC4768719

Abstract Article PDF–407K

Select item 69287499.

In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism

Nesli-Ece Sen, Aleksandar Arsovic, David Meierhofer, Susanne Brodesser, Carola Oberschmidt, Júlia Canet-Pons, Zeynep-Ece Kaya, Melanie-Vanessa Halbach, Suzana Gispert, Konrad Sandhoff, Georg Auburger

Int J Mol Sci. 2019 Dec; 20(23): 5854. Published online 2019 Nov 21. doi: 10.3390/ijms20235854

PMCID:: PMC6928749

Abstract Article PDF–4.9M

Select item 935732310.

Effects of the administration of Elovl5-dependent fatty acids on a spino-cerebellar ataxia 38 mouse model

Ilaria Balbo, Francesca Montarolo, Federica Genovese, Filippo Tempia, Eriola Hoxha

Behav Brain Funct. 2022; 18: 8. Published online 2022 Aug 6. doi: 10.1186/s12993-022-00194-4

PMCID:: PMC9357323

Abstract Article PDF–1.4M

Select item 811673611.

Elovl5 Expression in the Central Nervous System of the Adult Mouse

Ilaria Balbo, Francesca Montarolo, Enrica Boda, Filippo Tempia, Eriola Hoxha

Front Neuroanat. 2021; 15: 669073. Published online 2021 Apr 29. doi: 10.3389/fnana.2021.669073

PMCID:: PMC8116736

Abstract Article PDF–9.7M

Select item 725473512.

Docosahexaenoic acid in ARSACS: observations in two patients

Ivana Ricca, Alessandra Tessa, Rosanna Trovato, Giacomo Maria Bacci, Filippo Maria Santorelli

BMC Neurol. 2020; 20: 215. Published online 2020 May 28. doi: 10.1186/s12883-020-01803-3

PMCID:: PMC7254735

Abstract Article PDF–601K

Select item 567014613.

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

Eriola Hoxha, Rebecca M. C. Gabriele, Ilaria Balbo, Francesco Ravera, Linda Masante, Vanessa Zambelli, Cristian Albergo, Nico Mitro, Donatella Caruso, Eleonora Di Gregorio, Alfredo Brusco, Barbara Borroni, Filippo Tempia

Front Cell Neurosci. 2017; 11: 343. Published online 2017 Oct 30. doi: 10.3389/fncel.2017.00343

PMCID:: PMC5670146

Abstract Article PDF–4.9M

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