PMC Articles for MedGen (Select 339552) - PMC

Michel Sáenz‐Farret, Anthony E. Lang, Lorraine Kalia, Inês Cunha, Mário Sousa, Greg Kuhlman, Christos Ganos, Renato P. Munhoz, Alfonso Fasano, Carlos Eduardo Piña‐Avilés, Carlos Zúñiga‐Ramírez

Mov Disord Clin Pract. 2022 May; 9(4): 522–529. Published online 2022 Apr 1. doi: 10.1002/mdc3.13437

PMCID:: PMC9092757

Abstract Article PDF–430K

Select item 89440014.

An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15

Geert Vander Stichele, Alexandra Durr, Grace Yoon, Rebecca Schüle, Craig Blackstone, Giovanni Esposito, Connor Buffel, Inês Oliveira, Christian Freitag, Stephane van Rooijen, Stéphanie Hoffmann, Leen Thielemans, Belinda S. Cowling

BMC Neurol. 2022; 22: 115. Published online 2022 Mar 24. doi: 10.1186/s12883-022-02595-4

PMCID:: PMC8944001

Abstract Article PDF–2.8M

Select item 88614205.

A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy

Kathrine O. Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, Anne Kjersti Erichsen, Tuva Barøy, Kristoffer Søberg, Øystein Kalsnes Jørstad

Am J Ophthalmol Case Rep. 2022 Jun; 26: 101400. Published online 2022 Feb 16. doi: 10.1016/j.ajoc.2022.101400

PMCID:: PMC8861420

Abstract Article PDF–1.8M

Select item 87936736.

A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia

Christina Votsi, Antonis Ververis, Paschalis Nicolaou, Yiolanda-Panayiota Christou, Kyproula Christodoulou, Eleni Zamba-Papanicolaou

Front Genet. 2021; 12: 812640. Published online 2022 Jan 13. doi: 10.3389/fgene.2021.812640

PMCID:: PMC8793673

Abstract Article PDF–1.8M

Select item 83860447.

Positive DAT-SCAN in SPG7: a case report mimicking possible MSA-C

Gabriele Bellini, Eleonora Del Prete, Elisa Unti, Daniela Frosini, Gabriele Siciliano, Roberto Ceravolo

BMC Neurol. 2021; 21: 328. Published online 2021 Aug 25. doi: 10.1186/s12883-021-02345-y

PMCID:: PMC8386044

Abstract Article PDF–1.6M

Select item 75301198.

Emotional Detachment, Gait Ataxia, and Cerebellar Dysconnectivity Associated with Compound Heterozygous Mutations in the SPG7 Gene

John M. Ringman, Yuchuan Qiao, Alexander Garbin, Beth E. Fisher, Brent Fogel, Kecia Watari Knoell, Helena C. Chui, Yonggang Shi, Jessica E. Rexach

Neurocase. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Neurocase. 2020 Oct; 26(5): 299–304. Published online 2020 Sep 7. doi: 10.1080/13554794.2020.1817493

PMCID:: PMC7530119

Abstract Article PDF–700K

Select item 74696549.

Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells

Gautam Wali, Kishore Raj Kumar, Erandhi Liyanage, Ryan L. Davis, Alan Mackay-Sim, Carolyn M. Sue

Front Neurosci. 2020; 14: 820. Published online 2020 Aug 20. doi: 10.3389/fnins.2020.00820

PMCID:: PMC7469654

Abstract Article PDF–2.0M

Select item 741937310.

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia

Alma Osmanovic, Maylin Widjaja, Alisa Förster, Julia Weder, Mike P. Wattjes, Inken Lange, Anastasia Sarikidi, Bernd Auber, Peter Raab, Anne Christians, Matthias Preller, Susanne Petri, Ruthild G. Weber

J Neurol. 2020; 267(9): 2732–2743. Published online 2020 May 23. doi: 10.1007/s00415-020-09861-w

PMCID:: PMC7419373

Abstract Article PDF–3.2M

Select item 725151011.

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Majida Charif, Arnaud Chevrollier, Naïg Gueguen, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Stéphanie Leruez, Estelle Colin, Audrey Meunier, Catherine Vignal, Vasily Smirnov, Sabine Defoort-Dhellemmes, Isabelle Drumare Bouvet, Cyril Goizet, Marcela Votruba, Neringa Jurkute, Patrick Yu-Wai-Man, Francesca Tagliavini, Leonardo Caporali, Chiara La Morgia, Valerio Carelli, Vincent Procaccio, Xavier Zanlonghi, Isabelle Meunier, Pascal Reynier, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers

Neurol Genet. 2020 Jun; 6(3): e428. Published online 2020 May 20. doi: 10.1212/NXG.0000000000000428

PMCID:: PMC7251510

Abstract Article PDF–644K

Select item 705351512.

Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study

Michela Lupo, Giusy Olivito, Silvia Clausi, Libera Siciliano, Vittorio Riso, Marco Bozzali, Filippo M. Santorelli, Gabriella Silvestri, Maria Leggio

Front Neurol. 2020; 11: 82. Published online 2020 Feb 25. doi: 10.3389/fneur.2020.00082

PMCID:: PMC7053515

Abstract Article PDF–564K

Select item 695231813.

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

Edgard Verdura, Agatha Schlüter, Gorka Fernández‐Eulate, Raquel Ramos‐Martín, Miren Zulaica, Laura Planas‐Serra, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Adolfo López de Munain, Aurora Pujol

Ann Clin Transl Neurol. 2020 Jan; 7(1): 105–111. Published online 2019 Dec 18. doi: 10.1002/acn3.50967

PMCID:: PMC6952318

Abstract Article PDF–2.1M

Select item 680120514.

Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7

Ivan Milenkovic, Sigrid Klotz, Gudrun Zulehner, Thomas Sycha, Gerald Wiest

Ann Clin Transl Neurol. 2019 Oct; 6(10): 2127–2132. Published online 2019 Oct 10. doi: 10.1002/acn3.50907

PMCID:: PMC6801205

Abstract Article PDF–184K

Select item 663544315.

SPG7 targets the m-AAA protease complex to process MCU for uniporter assembly, Ca²⁺ influx, and regulation of mitochondrial permeability transition pore opening

Stephen Hurst, Ariele Baggett, Gyorgy Csordas, Shey-Shing Sheu

J Biol Chem. 2019 Jul 12; 294(28): 10807–10818. Published online 2019 May 16. doi: 10.1074/jbc.RA118.006443

PMCID:: PMC6635443

Abstract Article PDF–3.5M

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 629981717.

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations

Neurol Genet. 2018 Dec; 4(6): e300. Published online 2018 Dec 3. doi: 10.1212/NXG.0000000000000300

Corrects:: Neurol Genet. 2018 Dec; 4(6): e279.

PMCID:: PMC6299817

Correction PDF–33K

Select item 627380018.

In Silico Investigation of Traditional Chinese Medicine for Potential Lead Compounds as SPG7 Inhibitors against Coronary Artery Disease

Kuen-Bao Chen, Kuan-Chung Chen, Ya-Lin Chang, Kun-Lung Chang, Pei-Chun Chang, Tung-Ti Chang, Yu-Chian Chen

Molecules. 2016 May; 21(5): 588. Published online 2016 May 5. doi: 10.3390/molecules21050588

PMCID:: PMC6273800

Abstract Article PDF–15M

Select item 626304119.

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Xiaoqian Zhang, Lei Zhang, Yanqing Wu, Gang Li, Shengcai Chen, Yuanpeng Xia, Hongge Li

BMC Neurol. 2018; 18: 196. Published online 2018 Nov 29. doi: 10.1186/s12883-018-1199-9

PMCID:: PMC6263041

Abstract Article PDF–1.9M

Select item 624402520.

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations

Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou

Neurol Genet. 2018 Dec; 4(6): e279. Published online 2018 Oct 24. doi: 10.1212/NXG.0000000000000279

Correction in:: Neurol Genet. 2018 Dec; 4(6): e300.

PMCID:: PMC6244025

Abstract Article PDF–525K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 207

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity