PMC Articles for MedGen (Select 1799316) - PMC

Select item 99255931.

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 94972382.

Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia

Stojan Perić, Vladana Marković, Ayşe Candayan, Els De Vriendt, Nikola Momčilović, Andrija Savić, Nataša Dragašević-Mišković, Marina Svetel, Zorica Stević, Ivo Božović, Šarlota Mesaroš, Jelena Drulović, Ivana Basta, Igor Petrović, Olivera Tamaš, Milija Mijajlović, Ivana Novaković, Dragoslav Sokić, Albena Jordanova

Cells. 2022 Sep; 11(18): 2804. Published online 2022 Sep 8. doi: 10.3390/cells11182804

PMCID:: PMC9497238

Abstract Article PDF–817K

Select item 90975393.

Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia

Yuzhi Shi, An Wang, Bin Chen, Xingao Wang, Songtao Niu, Wei Li, Shaowu Li, Zaiqiang Zhang

Front Neurol. 2022; 13: 872927. Published online 2022 Apr 28. doi: 10.3389/fneur.2022.872927

PMCID:: PMC9097539

Abstract Article PDF–2.9M

Select item 78909814.

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

Ashraf Yahia, Zhefan Stephen Chen, Ammar E. Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Omer M. A. Taha, Mustafa A. Salih, Liena Elsayed, Ho Yin Edwin Chan, Giovanni Stevanin

BMC Neurol. 2021; 21: 78. Published online 2021 Feb 18. doi: 10.1186/s12883-021-02113-y

PMCID:: PMC7890981

Abstract Article PDF–1.5M

Select item 75775445.

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia

Yasuko Odake, Kishin Koh, Yoshihisa Takiyama, Hiroyuki Ishiura, Shoji Tsuji, Masahito Yamada, Mitsuhiro Yoshita

Neurol Genet. 2020 Oct; 6(5): e514. Published online 2020 Sep 8. doi: 10.1212/NXG.0000000000000514

PMCID:: PMC7577544

Abstract Article PDF–431K

Select item 70570816.

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

Mehrdad A. Estiar, Etienne Leveille, Dan Spiegelman, Nicolas Dupre, Jean-François Trempe, Guy A. Rouleau, Ziv Gan‐Or

Mol Genet Genomic Med. 2020 Mar; 8(3): e1052. Published online 2020 Jan 15. doi: 10.1002/mgg3.1052

PMCID:: PMC7057081

Abstract Article PDF–764K

Select item 66251207.

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 52783068.

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, Jean Samuel, Ludger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Zuchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle

Brain. 2017 Feb; 140(2): 287–305. Published online 2017 Jan 30. doi: 10.1093/brain/aww307

PMCID:: PMC5278306

Abstract Article PDF–1.8M

Select item 50276879.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer, Erik-Jan Kamsteeg

Eur J Hum Genet. 2016 Oct; 24(10): 1460–1466. Published online 2016 May 11. doi: 10.1038/ejhg.2016.42

Correction in:: Eur J Hum Genet. 2017 Mar; 25(3): 393–0.

PMCID:: PMC5027687

Abstract Article PDF–221K

Select item 493969510.

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

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