PMC Links for OMIM (Select 610844) - PMC

Select item 58395541.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio

Brain. 2016 Jan; 139(1): 73–85. Published online 2015 Nov 10. doi: 10.1093/brain/awv320

PMCID:: PMC5839554

Abstract Article PDF–1.4M

Select item 41404662.

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

Francesc Pérez-Brangulí, Himanshu K. Mishra, Iryna Prots, Steven Havlicek, Zacharias Kohl, Domenica Saul, Christine Rummel, Jonatan Dorca-Arevalo, Martin Regensburger, Daniela Graef, Elisabeth Sock, Juan Blasi, Teja W. Groemer, Ursula Schlötzer-Schrehardt, Jürgen Winkler, Beate Winner

Hum Mol Genet. 2014 Sep 15; 23(18): 4859–4874. Published online 2014 May 2. doi: 10.1093/hmg/ddu200

PMCID:: PMC4140466

Abstract Article PDF–2.4M

Select item 28939543.

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

Mikołaj Słabicki, Mirko Theis, Dragomir B. Krastev, Sergey Samsonov, Emeline Mundwiller, Magno Junqueira, Maciej Paszkowski-Rogacz, Joan Teyra, Anne-Kristin Heninger, Ina Poser, Fabienne Prieur, Jérémy Truchetto, Christian Confavreux, Cécilia Marelli, Alexandra Durr, Jean Philippe Camdessanche, Alexis Brice, Andrej Shevchenko, M. Teresa Pisabarro, Giovanni Stevanin, Frank Buchholz

PLoS Biol. 2010 Jun; 8(6): e1000408. Published online 2010 Jun 29. doi: 10.1371/journal.pbio.1000408

PMCID:: PMC2893954

Abstract Article PDF–2.2M

Select item 28226274.

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, Roberto Massa, Sarenur Basaran, Renato P. Munhoz, Ekaterina A. Rogaeva, Peter H. St George-Hyslop, Giorgio Bernardi, Toshitaka Kawarai

Brain. 2010 Feb; 133(2): 591–598. Published online 2010 Jan 28. doi: 10.1093/brain/awp325

PMCID:: PMC2822627

Abstract Article PDF–729K

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