PMC Articles for MedGen (Select 1800403) - PMC

Result Filters

Links from MedGen

Items: 4

Select item 66896801.

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza

Ann Clin Transl Neurol. 2019 Aug; 6(8): 1533–1540. Published online 2019 Jul 19. doi: 10.1002/acn3.50821

PMCID:: PMC6689680

Abstract Article PDF–1.2M

Select item 81704652.

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia

Yi-Jun Chen, Zai-Qiang Zhang, Meng-Wen Wang, Yu-Sen Qiu, Ru-Ying Yuan, En-Lin Dong, Zhe Zhao, Hai-Tao Zhou, Ning Wang, Wan-Jin Chen, Xiang Lin

Front Neurol. 2021; 12: 627531. Published online 2021 May 19. doi: 10.3389/fneur.2021.627531

PMCID:: PMC8170465

Abstract Article PDF–1.4M

Select item 78768033.

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

Kishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama

BMC Neurol. 2021; 21: 64. Published online 2021 Feb 11. doi: 10.1186/s12883-021-02087-x

PMCID:: PMC7876803

Abstract Article PDF–945K

Select item 45537564.

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