Video Upload Options

References

1. Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ,Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, IonasescuV, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Glycyl tRNAsynthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinalmuscular atrophy type V. Am J Hum Genet. 2003 May;72(5):1293-9.
2. Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, MyungK, Burgess S, Fischbeck KH, Green ED. Functional analyses of glycyl-tRNAsynthetase mutations suggest a key role for tRNA-charging enzymes in peripheralaxons. J Neurosci. 2006 Oct 11;26(41):10397-406.
3. Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H,Hartung HP. Phenotypic and genotypic heterogeneity in hereditary motorneuronopathy type V: a clinical, electrophysiological and genetic study. Brain.2000 Aug;123 ( Pt 8):1612-23.
4. Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E,Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM,Auer-Grumbach M. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012 Jul 13;91(1):139-45.doi: 10.1016/j.ajhg.2012.05.007.
5. Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D,Ruberg M, Brice A, LeGuern E. The G526R glycyl-tRNA synthetase gene mutation indistal hereditary motor neuropathy type V. Neurology. 2006 Jun 13;66(11):1721-6. Erratum in: Neurology. 2006 Aug 22;67(4):727.
6. Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditarymotor neuropathies. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R195-202. Review.
7. Ito D, Suzuki N. Molecular pathogenesis of seipin/BSCL2-related motor neurondiseases. Ann Neurol. 2007 Mar;61(3):237-50.
8. Ito D, Suzuki N. Seipinopathy: a novel endoplasmic reticulum stress-associateddisease. Brain. 2009 Jan;132(Pt 1):8-15. doi: 10.1093/brain/awn216.
9. Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L,Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E,Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M. Furtherevidence for genetic heterogeneity of distal HMN type V, CMT2 with predominanthand involvement and Silver syndrome. J Neurol Sci. 2007 Dec 15;263(1-2):100-6.
10. Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A,Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V,Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Phenotypic spectrum of disordersassociated with glycyl-tRNA synthetase mutations. Brain. 2005 Oct;128(Pt10):2304-14.
11. Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P,Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH,Wagner K. Heterozygous missense mutations in BSCL2 are associated with distalhereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6.