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Select item 108158261.

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)

Alexander German, Jelena Jukic, Andreas Laner, Philipp Arnold, Eileen Socher, Angelika Mennecke, Manuel A. Schmidt, Jürgen Winkler, Angela Abicht, Martin Regensburger

Genes (Basel) 2024 Jan; 15(1): 14. Published online 2023 Dec 20. doi: 10.3390/genes15010014

PMCID:: PMC10815826

Abstract Article PDF–2.5M

Select item 65576832.

Hereditary spastic paraplegia type 35 in a family from Mali

G Landouré, K Dembélé, L Cissé, O Samassékou, S Diarra, A Bocoum, ME Dembélé, KH Fischbeck, CO Guinto, The H3Africa Consortium

Am J Med Genet A. Author manuscript; available in PMC 2020 Jul 1.

Published in final edited form as: Am J Med Genet A. 2019 Jul; 179(7): 1122–1125. Published online 2019 May 14. doi: 10.1002/ajmg.a.61179

PMCID:: PMC6557683

Abstract Article PDF–453K

Select item 65369163.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Tim W Rattay, Tobias Lindig, Jonathan Baets, Katrien Smets, Tine Deconinck, Anne S Söhn, Konstanze Hörtnagel, Kathrin N Eckstein, Sarah Wiethoff, Jennifer Reichbauer, Marion Döbler-Neumann, Ingeborg Krägeloh-Mann, Michaela Auer-Grumbach, Barbara Plecko, Alexander Münchau, Bernd Wilken, Marc Janauschek, Anne-Katrin Giese, Jan L De Bleecker, Els Ortibus, Martine Debyser, Adolfo Lopez de Munain, Aurora Pujol, Maria Teresa Bassi, Maria Grazia D’Angelo, Peter De Jonghe, Stephan Züchner, Peter Bauer, Ludger Schöls, Rebecca Schüle

Brain. 2019 Jun; 142(6): 1561–1572. Published online 2019 Apr 26. doi: 10.1093/brain/awz102

PMCID:: PMC6536916

Abstract Article PDF–960K

Select item 63535254.

Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35

Cecilia Marelli, Mustafa A. Salih, Karine Nguyen, Martial Mallaret, Nicolas Leboucq, Hamdy H. Hassan, Nathalie Drouot, Pierre Labauge, Michel Koenig

Mov Disord Clin Pract. 2015 Mar; 2(1): 56–60. Published online 2015 Feb 18. doi: 10.1002/mdc3.12118

PMCID:: PMC6353525

Abstract Article PDF–218K

Select item 49400695.

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

Anne S. Soehn, Tim W. Rattay, Stefanie Beck-Wödl, Karin Schäferhoff, David Monk, Marion Döbler-Neumann, Konstanze Hörtnagel, Agatha Schlüter, Montserrat Ruiz, Aurora Pujol, Stephan Züchner, Olaf Riess, Rebecca Schüle, Peter Bauer, Ludger Schöls

Neurology. 2016 Jul 12; 87(2): 186–191. doi: 10.1212/WNL.0000000000002843

PMCID:: PMC4940069

Abstract Article PDF–760K

Select item 106891146.

Movement disorders in hereditary spastic paraplegias

Jose Luiz Pedroso, Thiago Cardoso Vale, Julian Letícia de Freitas, Filipe Miranda Milagres Araújo, Alex Tiburtino Meira, Pedro Braga Neto, Marcondes C. França, Junior, Vitor Tumas, Hélio A. G. Teive, Orlando G. P. Barsottini

Arq Neuropsiquiatr. 2023 Nov; 81(11): 1000–1007. Published online 2023 Nov 30. doi: 10.1055/s-0043-1777005

PMCID:: PMC10689114

Abstract Article PDF–405K

Select item 91671667.

Age-Dependent Increase in Schmidt-Lanterman Incisures and a Cadm4-Associated Membrane Skeletal Complex in Fatty Acid 2-hydroxylase Deficient Mice: a Mouse Model of Spastic Paraplegia SPG35

Silvia Jordans, Robert Hardt, Ivonne Becker, Dominic Winter, Lihua Wang-Eckhardt, Matthias Eckhardt

Mol Neurobiol. 2022; 59(7): 3969–3979. Published online 2022 Apr 20. doi: 10.1007/s12035-022-02832-4

PMCID:: PMC9167166

Abstract Article PDF–4.8M

Select item 88432418.

Childhood-onset Hereditary Spastic Paraplegia and Its Treatable Mimics

Darius Ebrahimi-Fakhari, Afshin Saffari, Phillip L Pearl

Mol Genet Metab. Author manuscript; available in PMC 2022 Dec 22.

Published in final edited form as: Mol Genet Metab. 2022 Dec; 137(4): 436–444. Published online 2021 Jun 24. doi: 10.1016/j.ymgme.2021.06.006

PMCID:: PMC8843241

Abstract Article PDF–363K

Select item 60596129.

Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA)

Michael C. Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y. Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Munnich, Stephanie Gobin, Brenda J. Polster, Silvia Palmeri, Simon Edvardson, John Hardy, Henry Houlden, Susan J. Hayflick

Ann Neurol. Author manuscript; available in PMC 2018 Jul 25.

Published in final edited form as: Ann Neurol. 2010 Nov; 68(5): 611–618. doi: 10.1002/ana.22122

PMCID:: PMC6059612

Abstract Article PDF–643K

Select item 603540510.

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

En-Lin Dong, Chong Wang, Shuang Wu, Ying-Qian Lu, Xiao-Hong Lin, Hui-Zhen Su, Miao Zhao, Jin He, Li-Xiang Ma, Ning Wang, Wan-Jin Chen, Xiang Lin

Mol Neurodegener. 2018; 13: 36. Published online 2018 Jul 6. doi: 10.1186/s13024-018-0269-1

PMCID:: PMC6035405

Abstract Article PDF–4.9M

Select item 583955411.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio

Brain. 2016 Jan; 139(1): 73–85. Published online 2015 Nov 10. doi: 10.1093/brain/awv320

PMCID:: PMC5839554

Abstract Article PDF–1.4M

Select item 493969512.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucia Schottlaender, Christos Proukakis, Huw Morris, Tom Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew B. Singleton, John Hardy, Nicholas W. Wood, Patrick A. Lewis, Henry Houlden

Brain. 2016 Jul; 139(7): 1904–1918. Published online 2016 May 23. doi: 10.1093/brain/aww111

PMCID:: PMC4939695

Abstract Article PDF–1.8M

Select item 1000294913.

Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases

Matthias Eckhardt

Int J Mol Sci. 2023 Mar; 24(5): 4908. Published online 2023 Mar 3. doi: 10.3390/ijms24054908

PMCID:: PMC10002949

Abstract Article PDF–1.8M

Select item 544142614.

Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Dana M. Bis, Rebecca Schüle, Jennifer Reichbauer, Matthis Synofzik, Tim W. Rattay, Anne Soehn, Peter de Jonghe, Ludger Schöls, Stephan Züchner

Mol Genet Genomic Med. 2017 May; 5(3): 280–286. Published online 2017 Apr 5. doi: 10.1002/mgg3.285

PMCID:: PMC5441426

Abstract Article PDF–712K

Select item 1108892515.

CRISPRi: a way to integrate iPSC-derived neuronal models

Sarah N.J. Franks, Rachel Heon-Roberts, Brent J. Ryan

Biochem Soc Trans. 2024 Apr 24; 52(2): 539–551. Published online 2024 Mar 25. doi: 10.1042/BST20230190

PMCID:: PMC11088925

Abstract Article PDF–1.5M

Select item 1108887916.

The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases

Anastasiya Potapenko, Jennilee M. Davidson, Albert Lee, Angela S. Laird

Biochem J. 2024 Mar 20; 481(6): 461–480. Published online 2024 Mar 18. doi: 10.1042/BCJ20240017

PMCID:: PMC11088879

Abstract Article PDF–4.0M

Select item 1108765017.

Regional nigral neuromelanin degeneration in asymptomatic leucine-rich repeat kinase 2 gene carrier using MRI

Linlin Gao, Rahul Gaurav, Pia Ziegner, Jinghong Ma, Junyan Sun, Jie Chen, Jiliang Fang, Yangyang Fan, Yan Bao, Dongling Zhang, Piu Chan, Qi Yang, Zhaoyang Fan, Stéphane Lehéricy, Tao Wu

Sci Rep. 2024; 14: 10621. Published online 2024 May 9. doi: 10.1038/s41598-024-59074-8

PMCID:: PMC11087650

Abstract Article PDF–1.2M

Select item 1108735418.

The Role of RIN3 Gene in Alzheimer’s Disease Pathogenesis: a Comprehensive Review

Mostafa Meshref, Hazem S. Ghaith, Mohamed Ahmed Hammad, Mahmoud Mohamed Mohamed Shalaby, Faris Ayasra, Fatma Ahmed Monib, Mohamed S. Attia, Mahmoud A. Ebada, Hanaa Elsayed, Ali Shalash, Eshak I. Bahbah

Mol Neurobiol. 2024; 61(6): 3528–3544. Published online 2023 Nov 23. doi: 10.1007/s12035-023-03802-0

PMCID:: PMC11087354

Abstract Article PDF–1.4M

Select item 1108490319.

Sonia Spinelli, Maurizio Bruschi, Mario Passalacqua, Lucrezia Guida, Mirko Magnone, Laura Sturla, Elena Zocchi

Int J Mol Sci. 2024 May; 25(9): 4796. Published online 2024 Apr 27. doi: 10.3390/ijms25094796

PMCID:: PMC11084903

Abstract Article PDF–1.3M

Select item 1108323720.

Brain–Periphery Interactions in Huntington’s Disease: Mediators and Lifestyle Interventions

Johannes Burtscher, Barbara Strasser, Giuseppe Pepe, Martin Burtscher, Martin Kopp, Alba Di Pardo, Vittorio Maglione, Andy V. Khamoui

Int J Mol Sci. 2024 May; 25(9): 4696. Published online 2024 Apr 25. doi: 10.3390/ijms25094696

PMCID:: PMC11083237

Abstract Article PDF–1.5M

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