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Select item 72315251.

Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion

Seongju Lee, Hyungsun Park, Peng-Peng Zhu, Soon-Young Jung, Craig Blackstone, Jaerak Chang

Sci Signal. Author manuscript; available in PMC 2020 Jul 7.

Published in final edited form as: Sci Signal. 2020 Jan 7; 13(613): eaau7500. Published online 2020 Jan 7. doi: 10.1126/scisignal.aau7500

PMCID:: PMC7231525

Abstract Article PDF–2.1M

Select item 70567852.

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia

Mahdieh Pashaei, Mohammad Masoud Rahimi Bidgoli, Davood Zare-Abdollahi, Hossein Najmabadi, Ramona Haji-Seyed-Javadi, Farzad Fatehi, Afagh Alavi

J Assist Reprod Genet. 2020 Feb; 37(2): 451–458. Published online 2020 Jan 8. doi: 10.1007/s10815-019-01660-1

PMCID:: PMC7056785

Abstract Article PDF–1.0M

Select item 70570813.

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 70571074.

Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama

Mol Genet Genomic Med. 2020 Mar; 8(3): e1108. Published online 2019 Dec 26. doi: 10.1002/mgg3.1108

PMCID:: PMC7057107

Abstract Article PDF–486K

Select item 70571095.

Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet

Mol Genet Genomic Med. 2020 Mar; 8(3): e1121. Published online 2020 Jan 5. doi: 10.1002/mgg3.1121

PMCID:: PMC7057109

Abstract Article PDF–904K

Select item 70716766.

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report

Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang, Hai-Feng Li

BMC Med Genet. 2020; 21: 51. Published online 2020 Mar 14. doi: 10.1186/s12881-020-0988-3

PMCID:: PMC7071676

Abstract Article PDF–1.1M

Select item 70769217.

Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review

Yung-Tsai Chu, Han-Yi Lin, Pei-Lung Chen, Chin-Hsien Lin

BMC Neurol. 2020; 20: 101. Published online 2020 Mar 17. doi: 10.1186/s12883-020-01684-6

PMCID:: PMC7076921

Abstract Article PDF–2.2M

Select item 70952288.

Mutations in the spike glycoprotein of human coronavirus OC43 modulate disease in BALB/c mice from encephalitis to flaccid paralysis and demyelination

Hélène Jacomy, Julien R. St-Jean, Élodie Brison, Gabriel Marceau, Marc Desforges, Pierre J. Talbot

J Neurovirol. 2010; 16(4): 279–293. doi: 10.3109/13550284.2010.497806

PMCID:: PMC7095228

Abstract Article PDF–1.3M

Select item 71183869.

A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia

Masanori Kurihara, Hiroyuki Ishiura, Taro Bannai, Jun Mitsui, Jun Yoshimura, Shinichi Morishita, Toshihiro Hayashi, Jun Shimizu, Tatsushi Toda, Shoji Tsuji

Intern Med. 2020 Mar 15; 59(6): 839–842. Published online 2019 Dec 6. doi: 10.2169/internalmedicine.3661-19

PMCID:: PMC7118386

Abstract Article PDF–371K

Select item 714826410.

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Krzysztof Szczałuba, Hanna Mierzewska, Robert Śmigiel, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Piotr Stawiński, Agnieszka Pollak, Małgorzata Rydzanicz, Rafał Płoski

J Appl Genet. 2020; 61(2): 213–218. Published online 2020 Mar 12. doi: 10.1007/s13353-020-00552-w

PMCID:: PMC7148264

Abstract Article PDF–362K

Select item 717397811.

Spastin mutations impair coordination between lipid droplet dispersion and reticulum

Yoan Arribat, Dogan Grepper, Sylviane Lagarrigue, Timothy Qi, Sarah Cohen, Francesca Amati

PLoS Genet. 2020 Apr; 16(4): e1008665. Published online 2020 Apr 21. doi: 10.1371/journal.pgen.1008665

PMCID:: PMC7173978

Abstract Article PDF–7.0M

Select item 717510912.

The Role of Torsin AAA+ Proteins in Preserving Nuclear Envelope Integrity and Safeguarding Against Disease

Anthony J. Rampello, Sarah M. Prophet, Christian Schlieker

Biomolecules. 2020 Mar; 10(3): 468. Published online 2020 Mar 19. doi: 10.3390/biom10030468

PMCID:: PMC7175109

Abstract Article PDF–1.4M

Select item 718247013.

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Kathie J. Ngo, Jessica E. Rexach, Hane Lee, Lauren E. Petty, Susan Perlman, Juliana M. Valera, Joshua L. Deignan, Yuanming Mao, Mamdouh Aker, Jennifer E. Posey, Shalini N. Jhangiani, Zeynep H. Coban-Akdemir, Eric Boerwinkle, Donna Muzny, Alexandra B. Nelson, Sharon Hassin-Baer, Gemma Poke, Katherine Neas, Michael D. Geschwind, Wayne W. Grody, Richard Gibbs, Daniel H. Geschwind, James R. Lupski, Jennifer E. Below, Stanley F. Nelson, Brent L. Fogel

Hum Mutat. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Hum Mutat. 2020 Feb; 41(2): 487–501. Published online 2019 Nov 25. doi: 10.1002/humu.23946

PMCID:: PMC7182470

Abstract Article PDF–262K

Select item 718402914.

Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis

Nimesha Tadepalle, Lennart Robers, Matteo Veronese, Peter Zentis, Felix Babatz, Susanne Brodesser, Anja V Gruszczyk, Astrid Schauss, Stefan Höning, Elena I Rugarli

Life Sci Alliance. 2020 Jun; 3(6): e202000715. Published online 2020 Apr 22. doi: 10.26508/lsa.202000715

PMCID:: PMC7184029

Abstract Article PDF–3.5M

Select item 718770615.

Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5

Cheng‐Ta Chou, Bing‐Wen Soong, Kon‐Ping Lin, Yu‐Shuen Tsai, Kang‐Yang Jih, Yi‐Chu Liao, Yi‐Chung Lee

Ann Clin Transl Neurol. 2020 Apr; 7(4): 486–496. Published online 2020 Mar 22. doi: 10.1002/acn3.51019

PMCID:: PMC7187706

Abstract Article PDF–2.1M

Select item 721361216.

The emerging link between IP₃ receptor turnover and Hereditary Spastic Paraplegia

Xiaokong Gao, Richard J.H. Wojcikiewicz

Cell Calcium. Author manuscript; available in PMC 2020 May 11.

Published in final edited form as: Cell Calcium. 2020 Mar; 86: 102142. Published online 2019 Dec 18. doi: 10.1016/j.ceca.2019.102142

PMCID:: PMC7213612

Abstract Article PDF–386K

Select item 705389917.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy, F. Mochel

AJNR Am J Neuroradiol. 2019 May; 40(5): 788–791. doi: 10.3174/ajnr.A6036

PMCID:: PMC7053899

Abstract Article PDF–759K

Select item 724019818.

Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson’s disease

Tianbai Li, Daqing Kou, Yanhua Cui, Weidong Le

Biosci Rep. 2020 May 29; 40(5): BSR20200534. Published online 2020 May 20. doi: 10.1042/BSR20200534

PMCID:: PMC7240198

Abstract Article PDF–567K

Select item 724644819.

The 15q11.2 BP1-BP2 Microdeletion (Burnside–Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Disorders

Syed K. Rafi, Merlin G. Butler

Int J Mol Sci. 2020 May; 21(9): 3296. Published online 2020 May 6. doi: 10.3390/ijms21093296

PMCID:: PMC7246448

Abstract Article PDF–2.7M

Select item 724974120.

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant

Héctor Cruz-Camino, Mercedes Vázquez-Cantú, Diana Laura Vázquez-Cantú, Jesús Santos-Guzmán, Antonio Bandala-Jacques, René Gómez-Gutiérrez, Consuelo Cantú-Reyna

Am J Case Rep. 2020; 21: e919463-1–e919463-5. Published online 2020 May 11. doi: 10.12659/AJCR.919463

PMCID:: PMC7249741

Abstract Article PDF–296K

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