PMC Articles for MedGen (Select 343157) - PMC

Juan Antonio García-Carmona, Joaquín Amores-Iniesta, José Soler-Usero, María Cerdán-Sánchez, Javier Navarro-Zaragoza, María López-López, Juan José Soria-Torrecillas, Ainhoa Ballesteros-Arenas, José Antonio Pérez-Vicente, Pilar Almela

Genes (Basel) 2023 Jul; 14(7): 1320. Published online 2023 Jun 23. doi: 10.3390/genes14071320

PMCID:: PMC10379220

Abstract Article PDF–2.3M

Select item 102178614.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients

Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Śmigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Rafał Płoski, Ewa Emich-Widera, Barbara Steinborn

Genes (Basel) 2023 May; 14(5): 972. Published online 2023 Apr 25. doi: 10.3390/genes14050972

PMCID:: PMC10217861

Abstract Article PDF–263K

Select item 99255935.

Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis

Seyed-Mohammad Fereshtehnejad, Philip A. Saleh, Lais M. Oliveira, Neha Patel, Suvorit Bhowmick, Gerard Saranza, Lorraine V. Kalia

Neurol Sci. 2023; 44(3): 947–959. Published online 2022 Nov 28. doi: 10.1007/s10072-022-06516-8

PMCID:: PMC9925593

Abstract Article PDF–2.3M

Select item 97784076.

Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia

Valeriia A. Kovalskaia, Victoriia V. Zabnenkova, Marina S. Petukhova, Zhanna G. Markova, Vyacheslav Yu. Tabakov, Oxana P. Ryzhkova

Genes (Basel) 2022 Dec; 13(12): 2186. Published online 2022 Nov 23. doi: 10.3390/genes13122186

PMCID:: PMC9778407

Abstract Article PDF–3.8M

Select item 93219317.

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment

Arun Meyyazhagan, Haripriya Kuchi Bhotla, Manikantan Pappuswamy, Antonio Orlacchio

Int J Mol Sci. 2022 Jul; 23(14): 7665. Published online 2022 Jul 11. doi: 10.3390/ijms23147665

PMCID:: PMC9321931

Abstract Article PDF–2.4M

Select item 68036948.

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 66251209.

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration

Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking

Orphanet J Rare Dis. 2019; 14: 174. Published online 2019 Jul 12. doi: 10.1186/s13023-019-1142-1

PMCID:: PMC6625120

Abstract Article PDF–871K

Select item 628768210.

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis

Chiara Vantaggiato, Elena Panzeri, Marianna Castelli, Andrea Citterio, Alessia Arnoldi, Filippo Maria Santorelli, Rocco Liguori, Marina Scarlato, Olimpia Musumeci, Antonio Toscano, Emilio Clementi, Maria Teresa Bassi

Autophagy. 2019; 15(1): 34–57. Published online 2018 Sep 13. doi: 10.1080/15548627.2018.1507438

PMCID:: PMC6287682

Abstract Article PDF–5.5M

Select item 603105311.

Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias

Kyle Denton, Yongchao Mou, Chong-Chong Xu, Dhruvi Shah, Jaerak Chang, Craig Blackstone, Xue-Jun Li

Hum Mol Genet. 2018 Jul 15; 27(14): 2517–2530. Published online 2018 May 2. doi: 10.1093/hmg/ddy156

PMCID:: PMC6031053

Abstract Article PDF–1.5M

Select item 588525912.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Marie Coutelier, Monia B. Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J. Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, Thomas de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T. Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon-Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Durr

JAMA Neurol. 2018 May; 75(5): 591–599. Published online 2018 Feb 26. doi: 10.1001/jamaneurol.2017.5121

PMCID:: PMC5885259

Abstract Article

Select item 583962113.

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

Paola S. Denora, Katrien Smets, Federica Zolfanelli, Chantal Ceuterick-de Groote, Carlo Casali, Tine Deconinck, Anne Sieben, Michael Gonzales, Stephan Zuchner, Frédéric Darios, Dirk Peeters, Alexis Brice, Alessandro Malandrini, Peter De Jonghe, Filippo M. Santorelli, Giovanni Stevanin, Jean-Jacques Martin, Khalid H. El Hachimi

Brain. 2016 Jun; 139(6): 1723–1734. Published online 2016 Mar 25. doi: 10.1093/brain/aww061

PMCID:: PMC5839621

Abstract Article PDF–1.1M

Select item 511101214.

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11

Allen Chi-Shing Yu, Anne Yin-Yan Chan, Wing Chi Au, Yun Shen, Ting Fung Chan, Ho-Yin Edwin Chan

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001248. doi: 10.1101/mcs.a001248

PMCID:: PMC5111012

Abstract Article PDF–967K

Select item 501145815.

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia

A. Kariminejad, L. Schöls, R. Schüle, S.H. Tonekaboni, A. Abolhassani, M. Fadaee, R.O. Rosti, J.G. Gleeson

Eur J Paediatr Neurol. Author manuscript; available in PMC 2016 Sep 6.

Published in final edited form as: Eur J Paediatr Neurol. 2016 Sep; 20(5): 782–787. Published online 2016 Jun 2. doi: 10.1016/j.ejpn.2016.05.013

PMCID:: PMC5011458

Abstract Article PDF–156K

Select item 455375616.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Marie Coutelier, Cyril Goizet, Alexandra Durr, Florence Habarou, Sara Morais, Alexandre Dionne-Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles, Maxime Jacoupy, Raphaël Matusiak, Isabel Alonso, Chantal Tallaksen, Mathilde Mairey, Marina Kennerson, Marion Gaussen, Rebecca Schule, Maxime Janin, Fanny Morice-Picard, Christelle M. Durand, Christel Depienne, Patrick Calvas, Paula Coutinho, Jean-Marie Saudubray, Guy Rouleau, Alexis Brice, Garth Nicholson, Frédéric Darios, José L. Loureiro, Stephan Zuchner, Chris Ottolenghi, Fanny Mochel, Giovanni Stevanin

Brain. 2015 Aug; 138(8): 2191–2205. Published online 2015 May 30. doi: 10.1093/brain/awv143

PMCID:: PMC4553756

Abstract Article PDF–901K

Select item 379883617.

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

Susanne T de Bot, Rogier C Burggraaff, Johanna C Herkert, Helenius J Schelhaas, Bart Post, Adinda Diekstra, Reinout O van Vliet, Marjo S van der Knaap, Erik-Jan Kamsteeg, Hans Scheffer, Bart P van de Warrenburg, Corien C Verschuuren-Bemelmans, Hubertus PH Kremer

Eur J Hum Genet. 2013 Nov; 21(11): 1312–1315. Published online 2013 Feb 27. doi: 10.1038/ejhg.2013.27

PMCID:: PMC3798836

Abstract Article PDF–816K

Select item 371075318.

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Amir Boukhris, Rebecca Schule, José L. Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael A. Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F. Acosta Lebrigio, Marion Gaussen, Fiorella Speziani, Andreas Ferbert, Imed Feki, Andrés Caballero-Oteyza, Alexandre Dionne-Laporte, Mohamed Amri, Anne Noreau, Sylvie Forlani, Vitor T. Cruz, Fanny Mochel, Paula Coutinho, Patrick Dion, Chokri Mhiri, Ludger Schols, Jean Pouget, Frédéric Darios, Guy A. Rouleau, Wilson Marques, Jr., Alexis Brice, Alexandra Durr, Stephan Zuchner, Giovanni Stevanin

Am J Hum Genet. 2013 Jul 11; 93(1): 118–123. doi: 10.1016/j.ajhg.2013.05.006

PMCID:: PMC3710753

Abstract Article PDF–1.4M

Select item 242718419.

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

Sylvain Hanein, Elodie Martin, Amir Boukhris, Paula Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola Denora, José Fernandez, Nizar Elleuch, Sylvie Forlani, Alexandra Durr, Imed Feki, Michael Hutchinson, Filippo M. Santorelli, Chokri Mhiri, Alexis Brice, Giovanni Stevanin

Am J Hum Genet. 2008 Apr 11; 82(4): 992–1002. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.03.004

PMCID:: PMC2427184

Abstract Article PDF–1.0M

Select item 171251220.

Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait.

M P Dubé, M A Mlodzienski, Z Kibar, M R Farlow, G Ebers, P Harper, E H Kolodny, G A Rouleau, D A Figlewicz

Am J Hum Genet. 1997 Mar; 60(3): 625–629.

PMCID:: PMC1712512

Summary Page Browse PDF–906K

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