PMC Articles for MedGen (Select 324965) - PMC

Kazuyuki Hirata, Masayuki Kotoku, Noriyoshi Seki, Takaki Maeba, Katsuya Maeda, Shintaro Hirashima, Takayuki Sakai, Shingo Obika, Akimi Hori, Yasunori Hase, Takayuki Yamaguchi, Yoshiaki Katsuda, Takahiro Hata, Naoki Miyagawa, Kojo Arita, Yukihiro Nomura, Kota Asahina, Yusuke Aratsu, Masafumi Kamada, Tsuyoshi Adachi, Masato Noguchi, Satoki Doi, Paul Crowe, Erin Bradley, Ruo Steensma, Haiyan Tao, Morgan Fenn, Robert Babine, Xiaolin Li, Scott Thacher, Hiromasa Hashimoto, Makoto Shiozaki

ACS Med Chem Lett. 2016 Jan 14; 7(1): 23–27. Published online 2015 Nov 4. doi: 10.1021/acsmedchemlett.5b00253

PMCID:: PMC4716592

Article PDF–1.6M

Select item 33615494.

TDP-43 Pathology in a Case of Hereditary Spastic Paraplegia with a NIPA1/SPG6 Mutation

Maria Martinez-Lage, Laura Molina-Porcel, Dana Falcone, Leo McCluskey, Virginia M.-Y. Lee, Vivianna M. Van Deerlin, John Q. Trojanowski

Acta Neuropathol. Author manuscript; available in PMC 2012 Sep 20.

Published in final edited form as: Acta Neuropathol. 2012 Aug; 124(2): 285–291. doi: 10.1007/s00401-012-0947-y

PMCID:: PMC3361549

Article PDF–1.3M

Select item 11806175.

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

Shirley Rainier, Jing-Hua Chai, Debra Tokarz, Robert D. Nicholls, John K. Fink

Am J Hum Genet. 2003 Oct; 73(4): 967–971. Published online 2003 Sep 23. doi: 10.1086/378817

PMCID:: PMC1180617

Article PDF–316K

Select item 106891146.

Movement disorders in hereditary spastic paraplegias

Jose Luiz Pedroso, Thiago Cardoso Vale, Julian Letícia de Freitas, Filipe Miranda Milagres Araújo, Alex Tiburtino Meira, Pedro Braga Neto, Marcondes C. França, Junior, Vitor Tumas, Hélio A. G. Teive, Orlando G. P. Barsottini

Arq Neuropsiquiatr. 2023 Nov; 81(11): 1000–1007. Published online 2023 Nov 30. doi: 10.1055/s-0043-1777005

PMCID:: PMC10689114

Article PDF–405K

Select item 100140047.

Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia

Shih‐Yu Fang, Ying‐Tsen Chou, Kuo‐Chou Hsu, Shao‐Lun Hsu, Kai‐Wei Yu, Yu‐Shuen Tsai, Yi‐Chu Liao, Pei‐Chien Tsai, Yi‐Chung Lee

Ann Clin Transl Neurol. 2023 Mar; 10(3): 353–362. Published online 2023 Jan 6. doi: 10.1002/acn3.51724

PMCID:: PMC10014004

Article PDF–2.1M

Select item 78935988.

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Gijs H.P. Tazelaar, Annelot M. Dekker, Joke J.F.A. van Vugt, Rick A. van der Spek, Henk-Jan Westeneng, Lindy J.B.G. Kool, Kevin P. Kenna, Wouter van Rheenen, Sara L. Pulit, Russell L. McLaughlin, William Sproviero, Alfredo Iacoangeli, Annemarie Hübers, David Brenner, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, Monica Povedano Panadés, Jesus S. Mora Pardina, Jonathan D. Glass, Orla Hardiman, Ammar Al-Chalabi, Philip van Damme, Wim Robberecht, John E. Landers, Albert C. Ludolph, Jochen H. Weishaupt, Leonard H. van den Berg, Jan H. Veldink, Michael A. van Es

Neurobiol Aging. Author manuscript; available in PMC 2021 Feb 19.

Published in final edited form as: Neurobiol Aging. 2019 Feb; 74: 234.e9–234.e15. Published online 2018 Sep 22. doi: 10.1016/j.neurobiolaging.2018.09.012

PMCID:: PMC7893598

Article PDF–561K

Select item 72464489.

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

Article PDF–2.7M

Select item 603540510.

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

En-Lin Dong, Chong Wang, Shuang Wu, Ying-Qian Lu, Xiao-Hong Lin, Hui-Zhen Su, Miao Zhao, Jin He, Li-Xiang Ma, Ning Wang, Wan-Jin Chen, Xiang Lin

Mol Neurodegener. 2018; 13: 36. Published online 2018 Jul 6. doi: 10.1186/s13024-018-0269-1

PMCID:: PMC6035405

Article PDF–4.9M

Select item 137725111.

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.

G De Michele, M De Fusco, F Cavalcanti, A Filla, R Marconi, G Volpe, A Monticelli, A Ballabio, G Casari, S Cocozza

Am J Hum Genet. 1998 Jul; 63(1): 135–139. doi: 10.1086/301930

PMCID:: PMC1377251

Summary PDF–329K

Select item 105120912.

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

O Heinzlef, C Paternotte, F Mahieux, J F Prud'homme, J Dien, M Madigand, J Pouget, J Weissenbach, E Roullet, J Hazan

J Med Genet. 1998 Feb; 35(2): 89–93. doi: 10.1136/jmg.35.2.89

PMCID:: PMC1051209

Summary Page Browse PDF–966K

Select item 31079213.

Quality Assessment of Whole Genome Mapping Data in the Refined Familial Spastic Paraplegia Interval on Chromosome 14q

Caroline Paternotte, Doda Rudnicki, Cécile Fizames, Claire-Sophie Davoine, Delphine Mavel, Alexandra Dürr, Delphine Samson, Catherine Marquette, Delphine Muselet, Nathalie Vega-Czarny, Nathalie Drouot, Thomas Voit, Bertrand Fontaine, Gabor Gyapay, Georg Auburger, Jean Weissenbach, Jamilé Hazan

Genome Res. 1998 Nov; 8(11): 1216–1227. doi: 10.1101/gr.8.11.1216

PMCID:: PMC310792

Article PDF–5.0M

Select item 381493614.

Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model

Fumihiro Watanabe, William D. Arnold, Robert E. Hammer, Odelia Ghodsizadeh, Harmeet Moti, Mackenzie Schumer, Ahmed Hashmi, Anthony Hernandez, Amita Sneh, Zarife Sahenk, Yaz Y. Kisanuki

J Neuropathol Exp Neurol. 2013 Nov; 72(11): 1016–1028. Published online 2013 Oct 28. doi: 10.1097/NEN.0000000000000000

PMCID:: PMC3814936

Article PDF–38M

Select item 1054402715.

Spacial Score—A Comprehensive Topological Indicator for Small-Molecule Complexity

Adrian Krzyzanowski, Axel Pahl, Michael Grigalunas, Herbert Waldmann

J Med Chem. 2023 Sep 28; 66(18): 12739–12750. Published online 2023 Aug 31. doi: 10.1021/acs.jmedchem.3c00689

PMCID:: PMC10544027

Article PDF–7.0M

Select item 1034028016.

Insights into Chemical Structure-Based Modeling for New Sweetener Discovery

Ning Tang

Foods. 2023 Jul; 12(13): 2563. Published online 2023 Jun 30. doi: 10.3390/foods12132563

PMCID:: PMC10340280

Article PDF–4.9M

Select item 1025417017.

Diastereoselective Synthesis of the Borylated d-Galactose Monosaccharide 3-Boronic-3-Deoxy-d-Galactose and Biological Evaluation in Glycosidase Inhibition and in Cancer for Boron Neutron Capture Therapy (BNCT)

Michela I. Simone

Molecules. 2023 Jun; 28(11): 4321. Published online 2023 May 24. doi: 10.3390/molecules28114321

PMCID:: PMC10254170

Article PDF–1.3M

Select item 1022369418.

Synthetic Routes to Approved Drugs Containing a Spirocycle

Nazar Moshnenko, Alexander Kazantsev, Evgeny Chupakhin, Olga Bakulina, Dmitry Dar’in

Molecules. 2023 May; 28(10): 4209. Published online 2023 May 20. doi: 10.3390/molecules28104209

PMCID:: PMC10223694

Article PDF–33M

Select item 1005422619.

Rapid and Efficient Access to Novel Bio-Inspired 3-Dimensional Tricyclic SpiroLactams as Privileged Structures via Meyers’ Lactamization

Salia Tangara, Léo Faïon, Catherine Piveteau, Frédéric Capet, Romain Godelier, Marion Michel, Marion Flipo, Benoit Deprez, Nicolas Willand, Baptiste Villemagne

Pharmaceuticals (Basel) 2023 Mar; 16(3): 413. Published online 2023 Mar 8. doi: 10.3390/ph16030413

PMCID:: PMC10054226

Article PDF–21M

Select item 1003621120.

Concise syntheses of GB22, GB13 and himgaline by cross-coupling and complete reduction

Eleanor M. Landwehr, Meghan A. Baker, Takuya Oguma, Hannah E. Burdge, Takahiro Kawajiri, Ryan A. Shenvi

Science. Author manuscript; available in PMC 2023 Mar 24.

Published in final edited form as: Science. 2022 Mar 18; 375(6586): 1270–1274. Published online 2022 Mar 17. doi: 10.1126/science.abn8343

PMCID:: PMC10036211

Article PDF–1.3M

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