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Genet."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0360","doi-asserted-by":"crossref","first-page":"2966","DOI":"10.1038\/sj.emboj.7601184","article-title":"Regulation of mitochondrial morphology through proteolytic cleavage of OPA1","volume":"25","author":"Ishihara","year":"2006","journal-title":"EMBO J."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0365","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1093\/brain\/awn216","article-title":"Seipinopathy: a novel endoplasmic reticulum stress-associated disease","volume":"132","author":"Ito","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.expneurol.2012.01.010_bb0370","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1001\/archneur.64.5.706","article-title":"Hereditary spastic paraplegia 3A associated with axonal neuropathy","volume":"64","author":"Ivanova","year":"2007","journal-title":"Arch. 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Genet."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0485","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1093\/brain\/awr148","article-title":"Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4","volume":"134","author":"Nicholson","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.expneurol.2012.01.010_bb0490","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1385\/NMM:8:1-2:217","article-title":"Pathomechanisms of mutant proteins in Charcot\u2013Marie\u2013Tooth disease","volume":"8","author":"Niemann","year":"2006","journal-title":"NeuroMolecular Med."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0495","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.nbd.2009.09.011","article-title":"GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance","volume":"36","author":"Niemann","year":"2009","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0500","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.cell.2005.08.003","article-title":"The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria","volume":"123","author":"Nolden","year":"2005","journal-title":"Cell"},{"key":"10.1016\/j.expneurol.2012.01.010_bb0505","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1038\/nature08280","article-title":"Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin","volume":"460","author":"Orso","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.expneurol.2012.01.010_bb0510","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1093\/brain\/awn328","article-title":"Hereditary spastic paraplegia is a novel phenotype for GJA12\/GJC2 mutations","volume":"132","author":"Orthmann-Murphy","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.expneurol.2012.01.010_bb0515","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/978-90-481-2813-6_9","article-title":"The role of mitochondrial network dynamics in the pathogenesis of Charcot\u2013Marie\u2013Tooth disease","volume":"652","author":"Palau","year":"2009","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0520","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1172\/JCI40979","article-title":"Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network","volume":"120","author":"Park","year":"2010","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0525","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/ng937","article-title":"SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia","volume":"31","author":"Patel","year":"2002","journal-title":"Nat. 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Genet."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0575","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1093\/hmg\/ddi003","article-title":"The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B","volume":"14","author":"Reid","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0580","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1242\/jcs.02782","article-title":"Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells","volume":"119","author":"Renvoise","year":"2006","journal-title":"J. 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J. Hum. Genet."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0610","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/jnr.20628","article-title":"SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot\u2013Marie\u2013Tooth disease","volume":"82","author":"Shirk","year":"2005","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0615","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1093\/brain\/awh048","article-title":"Phenotypic clustering in MPZ mutations","volume":"127","author":"Shy","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.expneurol.2012.01.010_bb0620","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1086\/379522","article-title":"Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia","volume":"73","author":"Simpson","year":"2003","journal-title":"Am. J. Hum. 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Neurosci."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0635","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1086\/518770","article-title":"Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin\/FGD4","volume":"81","author":"Stendel","year":"2007","journal-title":"Am. J. Hum. 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A."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0650","doi-asserted-by":"crossref","first-page":"20890","DOI":"10.1073\/pnas.0704154104","article-title":"The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology","volume":"104","author":"Szymanski","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.expneurol.2012.01.010_bb0655","doi-asserted-by":"crossref","first-page":"3544","DOI":"10.1093\/hmg\/ddl431","article-title":"A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition","volume":"15","author":"Tarrade","year":"2006","journal-title":"Hum. Mol. 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