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1)Alexander MR, Bernadett K, Linda G, et al. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry. 2012; 83: 6-14
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2)Kolb SJ, Kissel JT, Prior TW, et al. Mutant small heat shock protein B3 causes motor neuropathy. Neurology. 2010; 74: 502-6
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3)Blumen SC, Barkats M, Viollet L, et al. A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann Neurol. 2012; 71: 509-19
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4)Gess B, Young P, Senderek J, et al. HSJ1-related hereditary neuropathies. Neurology. 2014; 83: 1726-32
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5)Zhao Z, Hashiguchi A, Takashima H, et al. Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. Neurology. 2012; 78: 1644-9
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6)Vester A, Velez-Ruiz G, Antonellis A, et al. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat. 2013; 34: 191-9
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7)Zimon M, Baets J, Jordanova A, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet. 2012; 44: 1080-3
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8)Butterfield RJ, Stevenson TJ, Swoboda KJ, et al. Congenital lethal motor neuron disease with a novel defect in ribosome biogenesiss. Neurology. 2014; 82: 1322-30
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9)Summer CJ, dʼYdewalle C, Houlden H, et al. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet. 2013; 93: 976-83
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10)Hiel JA, van Engelen BG, Taylor AM, et al. Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. Neurology. 2006; 67: 346-9
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11)Kennerson ML, Nicholson GA, Garbern JY, et al. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet. 2010; 86: 343-52
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12)Al-Saif A, Al-Mohanna F, Bohlega S, A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol. 2011; 70: 913-9
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13)Li X, Hu Z, Zhang R, et al. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. Neurology. 2015; 84: 2430-7
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14)Harms MB, Ori-McKenney KM, Baloh RH, et al. Mutations in the tall domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012; 78: 1714-20
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15)Weedon MN, Hastings R, Ellard S, et al. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet. 2011; 89: 308-12
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16)Beetz C, Pieber TR, Auer-Grumbach M, et al. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012; 91: 139-45
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17)Pitceathly RD, Murphy SM, Hanna MG, et al. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology. 2012; 79: 1145-54
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18)Aure K, Dubourg O, Lombes A, et al. Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations. Neurology. 2013; 81: 1810-8
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19)Barwick KE, Wright J, Crosby AH, et al. Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet. 2012; 91: 1103-7
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20)Auer-Grumbach M, Weger M, Guelly C, et al. Fiblin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain. 2011; 134: 1839-52
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21)Dierick I, Baets J, Irobi J, et al. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain. 2008; 131: 1217-27
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