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Select item 113066451.

Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family

Assunta Trinchillo, Valeria Valente, Marcello Esposito, Miriana Migliaccio, Aniello Iovino, Michele Picciocchi, Nunzia Cuomo, Carmela Caccavale, Cristofaro Nocerino, Laura De Rosa, Elena Salvatore, Giovanna Maria Pierantoni, Valeria Menchise, Simona Paladino, Chiara Criscuolo

Neurol Sci. 2024; 45(9): 4373–4381. Published online 2024 Apr 12. doi: 10.1007/s10072-024-07500-0

PMCID:: PMC11306645

Abstract Article PDF–847K

Select item 112550722.

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability

Ettore Cioffi, Valeria Gioiosa, Alessandra Tessa, Antonio Petrucci, Rosanna Trovato, Filippo Maria Santorelli, Carlo Casali

Neurol Sci. 2024; 45(8): 3845–3852. Published online 2024 Mar 1. doi: 10.1007/s10072-024-07423-w

PMCID:: PMC11255072

Abstract Article PDF–711K

Select item 112514673.

Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS

Heather Marriott, Thomas P. Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A. Başak, Johnathan Cooper‐Knock, Philippe Corcia, Philippe Couratier, Mamede de Carvalho, Vivian Drory, Marc Gotkine, John E. Landers, Russell McLaughlin, Jesús S. Mora Pardina, Karen E. Morrison, Susana Pinto, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, Nicola Ticozzi, Philip van Damme, Leonard H. van den Berg, Patrick Vourc'h, Markus Weber, Jan H. Veldink, Project MinE ALS Sequencing Consortium , Richard J. Dobson, Patrick Schwab, Ammar Al‐Chalabi, Alfredo Iacoangeli

Ann Clin Transl Neurol. 2024 Jul; 11(7): 1775–1786. Published online 2024 May 22. doi: 10.1002/acn3.52083

PMCID:: PMC11251467

Abstract Article PDF–1.7M

Select item 111077624.

Cytochrome P450 2U1, a very peculiar member of the human P450s family

L. Dhers, L. Ducassou, J.-L. Boucher, D. Mansuy

Cell Mol Life Sci. 2017 May; 74(10): 1859–1869. Published online 2017 Jan 12. doi: 10.1007/s00018-016-2443-3

PMCID:: PMC11107762

Abstract Article PDF–1.5M

Select item 108911945.

Surgical treatment options for spasticity in children and adolescents with hereditary spastic paraplegia

Laura A. van de Pol, Nina Burgert, Petra E. M. van Schie, K. Mariam Slot, Alida A. Gouw, Annemieke I. Buizer

Childs Nerv Syst. 2024; 40(3): 855–861. Published online 2023 Oct 3. doi: 10.1007/s00381-023-06159-w

PMCID:: PMC10891194

Abstract Article PDF–511K

Select item 107846726.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr

eBioMedicine. 2024 Jan; 99: 104931. Published online 2023 Dec 27. doi: 10.1016/j.ebiom.2023.104931

PMCID:: PMC10784672

Abstract Article PDF–854K

Select item 104119367.

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo M Santorelli, Mustafa Sahin, Craig Blackstone, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari

Brain. 2023 May; 146(5): 2003–2015. Published online 2022 Oct 31. doi: 10.1093/brain/awac391

PMCID:: PMC10411936

Abstract Article PDF–926K

Select item 100425778.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke, Mathilde Renaud, Sarah Fazal, Marie-Josée Dicaire, Carolin K. Scriba, Catherine Ashton, Christopher Yanick, Danique Beijer, Adriana Rebelo, Clarissa Rocca, Zane Jaunmuktane, Joshua A. Sonnen, Roxanne Larivière, David Genís, Laura Molina Porcel, Karine Choquet, Rawan Sakalla, Sylvie Provost, Rebecca Robertson, Xavier Allard-Chamard, Martine Tétreault, Sarah J. Reiling, Sara Nagy, Vikas Nishadham, Meera Purushottam, Seena Vengalil, Mainak Bardhan, Atchayaram Nalini, Zhongbo Chen, Jean Mathieu, Rami Massie, Colin H. Chalk, Anne-Louise Lafontaine, François Evoy, Marie-France Rioux, Jiannis Ragoussis, Kym M. Boycott, Marie-Pierre Dubé, Antoine Duquette, Henry Houlden, Gianina Ravenscroft, Nigel G. Laing, Phillipa J. Lamont, Mario A. Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais

N Engl J Med. Author manuscript; available in PMC 2023 Jul 12.

Published in final edited form as: N Engl J Med. 2023 Jan 12; 388(2): 128–141. Published online 2022 Dec 14. doi: 10.1056/NEJMoa2207406

PMCID:: PMC10042577

Abstract Article PDF–1.4M

Select item 97398339.

Human Orphan Cytochrome P450 2U1 Catalyzes the ω-Hydroxylation of Leukotriene B₄

Khawla Nouri, Nicolas Pietrancosta, Laurent Le Corre, Patrick M. Dansette, Daniel Mansuy, Jean-Luc Boucher

Int J Mol Sci. 2022 Dec; 23(23): 14615. Published online 2022 Nov 23. doi: 10.3390/ijms232314615

PMCID:: PMC9739833

Abstract Article PDF–1.7M

Select item 913154610.

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report

Shingo Koyama, Yuma Okabe, Yuya Suzuki, Ryosuke Igari, Hiroyasu Sato, Chifumi Iseki, Kazuyo Tanji, Kyoko Suzuki, Yasuyuki Ohta

BMC Neurol. 2022; 22: 193. Published online 2022 May 25. doi: 10.1186/s12883-022-02711-4

PMCID:: PMC9131546

Abstract Article PDF–1.3M

Select item 778048111.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D'Amore, Kathrin Eberhardt, Barbara Brechmann, Marvin Ziegler, Dana M Jensen, Premsai Nagabhyrava, Gregory Geisel, Erin Carmody, Uzma Shamshad, Kira A. Dies, Christopher J Yuskaitis, Catherine L Salussolia, Daniel Ebrahimi-Fakhari, Toni S Pearson, Afshin Saffari, Andreas Ziegler, Stefan Kölker, Jens Volkmann, Antje Wiesener, David R Bearden, Shenela Lakhani, Devorah Segal, Anaita Udwadia-Hegde, Andrea Martinuzzi, Jennifer Hirst, Seth Perlman, Yoshihisa Takiyama, Georgia Xiromerisiou, Katharina Vill, William O Walker, Anju Shukla, Rachana Dubey Gupta, Niklas Dahl, Ayse Aksoy, Helene Verhelst, Mauricio R Delgado, Radka Kremlikova Pourova, Abdelrahim A Sadek, Nour M Elkhateeb, Lubov Blumkin, Alejandro J Brea-Fernández, David Dacruz-Álvarez, Thomas Smol, Jamal Ghoumid, Diego Miguel, Constanze Heine, Jan-Ulrich Schlump, Hendrik Langen, Jonathan Baets, Saskia Bulk, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Elizabeth Lim-Melia, Nur Aydinli, Yasemin Alanay, Omnia El-Rashidy, Sheela Nampoothiri, Chirag Patel, Christian Beetz, Peter Bauer, Grace Yoon, Mireille Guillot, Steven P Miller, Thomas Bourinaris, Henry Houlden, Laura Robelin, Mathieu Anheim, Abdullah S Alamri, Adel A H Mahmoud, Soroor Inaloo, Parham Habibzadeh, Mohammad Ali Faghihi, Anna C Jansen, Stefanie Brock, Agathe Roubertie, Basil T Darras, Pankaj B Agrawal, Filippo M Santorelli, Joseph Gleeson, Maha S Zaki, Sarah I Sheikh, James T Bennett, Mustafa Sahin

Brain. 2020 Oct; 143(10): 2929–2944. Published online 2020 Sep 26. doi: 10.1093/brain/awz307

Correction in:: Brain. 2021 Mar; 144(3): e33.

PMCID:: PMC7780481

Abstract Article PDF–1.4M

Select item 689222112.

Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Carlo Fusco

Ital J Pediatr. 2019; 45: 155. Published online 2019 Dec 3. doi: 10.1186/s13052-019-0752-5

PMCID:: PMC6892221

Abstract Article PDF–1.5M

Select item 680369413.

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle

Nat Commun. 2019; 10: 4790. Published online 2019 Oct 21. doi: 10.1038/s41467-019-12620-9

PMCID:: PMC6803694

Abstract Article PDF–2.1M

Select item 673018614.

Axonal Regeneration and Lack of Astrocytic Gliosis in EphA4-Deficient Mice

Yona Goldshmit, Mary P. Galea, Graham Wise, Perry F. Bartlett, Ann M. Turnley

J Neurosci. 2004 Nov 10; 24(45): 10064–10073. doi: 10.1523/JNEUROSCI.2981-04.2004

PMCID:: PMC6730186

Abstract Article PDF–777K

Select item 667479015.

Perturbed Interactions of Mutant Proteolipid Protein/DM20 with Cholesterol and Lipid Rafts in Oligodendroglia: Implications for Dysmyelination in Spastic Paraplegia

Eva-Maria Krämer-Albers, Katja Gehrig-Burger, Christoph Thiele, Jacqueline Trotter, Klaus-Armin Nave

J Neurosci. 2006 Nov 8; 26(45): 11743–11752. doi: 10.1523/JNEUROSCI.3581-06.2006

PMCID:: PMC6674790

Abstract Article PDF–3.2M

Select item 655609516.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Giulia Coarelli, Rebecca Schule, Bart P.C. van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik, Elisa G. Hamer, Jonathan Baets, Mathieu Anheim, Ludger Schöls, Tine Deconinck, Pegah Masrori, Bertrand Fontaine, Thomas Klockgether, Maria Grazia D'Angelo, Marie-Lorraine Monin, Jan De Bleecker, Isabelle Migeotte, Perrine Charles, Maria Teresa Bassi, Thomas Klopstock, Fanny Mochel, Elisabeth Ollagnon-Roman, Marc D'Hooghe, Christoph Kamm, Delia Kurzwelly, Melanie Papin, Claire-Sophie Davoine, Guillaume Banneau, Sophie Tezenas du Montcel, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Giovanni Stevanin, Alexandra Durr

Neurology. 2019 Jun 4; 92(23): e2679–e2690. doi: 10.1212/WNL.0000000000007606

PMCID:: PMC6556095

Abstract Article PDF–1.0M

Select item 617757817.

The erlin2 T65I mutation inhibits erlin1/2 complex–mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding

Forrest A. Wright, Caden G. Bonzerato, Danielle A. Sliter, Richard J. H. Wojcikiewicz

J Biol Chem. 2018 Oct 5; 293(40): 15706–15714. Published online 2018 Aug 22. doi: 10.1074/jbc.RA118.004547

PMCID:: PMC6177578

Abstract Article PDF–2.0M

Select item 567511818.

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

Hossein Darvish, Luis J. Azcona, Abbas Tafakhori, Mona Ahmadi, Azadeh Ahmadifard, Coro Paisán-Ruiz

NPJ Genom Med. 2017; 2: 20. Published online 2017 Jun 1. doi: 10.1038/s41525-017-0022-7

PMCID:: PMC5675118

Abstract Article PDF–409K

Select item 535986819.

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

Mahmoud F. Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem

BMC Med Genet. 2017; 18: 33. Published online 2017 Mar 21. doi: 10.1186/s12881-017-0395-6

PMCID:: PMC5359868

Abstract Article PDF–775K

Select item 535904120.

Iron importers Zip8 and Zip14 are expressed in retina and regulated by retinal iron levels

Jacob Sterling, Samyuktha Guttha, Ying Song, Delu Song, Majda Hadziahmetovic, Joshua L. Dunaief

Exp Eye Res. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Exp Eye Res. 2017 Feb; 155: 15–23. Published online 2017 Jan 3. doi: 10.1016/j.exer.2016.12.008

PMCID:: PMC5359041

Abstract Article PDF–1.4M

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