메뉴 건너뛰기




Volumn 261, Issue 5, 2014, Pages 970-982

Whole-exome sequencing in patients with inherited neuropathies: Outcome and challenges

(14)  Schabhüttl, Maria a   Wieland, Thomas b   Senderek, Jan c   Baets, Jonathan d,e,f   Timmerman, Vincent d,e   De Jonghe, Peter d,e,f   Reilly, Mary M g   Stieglbauer, Karl h   Laich, Eva i   Windhager, Reinhard a   Erwa, Wolfgang j   Trajanoski, Slave j   Strom, Tim M b,k   Auer Grumbach, Michaela a  


Author keywords

CMT; dHMN; HMSN; IPN; WES

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; FEMALE; GENE; GENE SEQUENCE; GENETIC PROCEDURES; GENETIC VARIABILITY; HUMAN; INHERITED PERIPHERAL NEUROPATHY; ITPR3 GENE; KLHL13 GENE; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; PERIPHERAL NEUROPATHY; PEX12 GENE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SH3BP4 GENE; WHOLE EXOME SEQUENCING; CHILD; DNA SEQUENCE; EXOME; GENETIC VARIATION; GENETICS; MIDDLE AGED; PERIPHERAL NERVOUS SYSTEM DISEASES; PRESCHOOL CHILD; PROCEDURES; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84901940918     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7289-8     Document Type: Article
Times cited : (58)

References (60)
  • 1
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease
    • Skre H (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 6:98-118
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 2
    • 0001046663 scopus 로고
    • Hereditary motor and sensory neuropathies
    • Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Saunders, Philadelphia
    • Dyck PJ, Chance P, Lebo R, Carney JA (1993) Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Peripheral neuropathy, 3rd edn. Saunders, Philadelphia, pp 1094-1136
    • (1993) Peripheral Neuropathy, 3rd Edn , pp. 1094-1136
    • Dyck, P.J.1    Chance, P.2    Lebo, R.3    Carney, J.A.4
  • 4
    • 0001140122 scopus 로고
    • Inherited neuronal atrophy and degeneration predominantly of lower motor neurons
    • Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Saunders, Philadelphia
    • Harding AE (1993) Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Peripheral neuropathy, 3rd edn. Saunders, Philadelphia, pp 1051-1064
    • (1993) Peripheral Neuropathy, 3rd Edn , pp. 1051-1064
    • Harding, A.E.1
  • 8
    • 0000157043 scopus 로고
    • Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons
    • Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Saunders, Philadelphia
    • Dyck PJ (1993) Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Peripheral neuropathy, 3rd edn. Saunders, Philadelphia, pp 1065-1093
    • (1993) Peripheral Neuropathy, 3rd Edn , pp. 1065-1093
    • Dyck, P.J.1
  • 19
    • 0344011468 scopus 로고    scopus 로고
    • Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene
    • Auer-Grumbach M, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K (2003) Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 61:1435-1437 (Pubitemid 37463388)
    • (2003) Neurology , vol.61 , Issue.10 , pp. 1435-1437
    • Auer-Grumbach, M.1    Strasser-Fuchs, S.2    Robl, T.3    Windpassinger, C.4    Wagner, K.5
  • 20
    • 17444373392 scopus 로고    scopus 로고
    • ALOHOMORA: A tool for linkage analysis using 10K SNP array data
    • Rüschendorf F, Nürnberg P (2005) ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics 21:2123-2125
    • (2005) Bioinformatics , vol.21 , pp. 2123-2125
    • Rüschendorf, F.1    Nürnberg, P.2
  • 21
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101
    • (2002) Nat Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 22
    • 0002622130 scopus 로고
    • Measurement of saturated very long chain fatty acids in plasma
    • Hommes F (ed) Wiley, New York
    • Moser HW, Moser AB (1991) Measurement of saturated very long chain fatty acids in plasma. In: Hommes F (ed) Techniques in diagnostic human biochemical genetics. Wiley, New York, pp 177-191
    • (1991) Techniques in Diagnostic Human Biochemical Genetics , pp. 177-191
    • Moser, H.W.1    Moser, A.B.2
  • 23
    • 0032440308 scopus 로고    scopus 로고
    • Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry
    • DOI 10.1016/S0378-4347(98)00186-8, PII S0378434798001868
    • Vreken P, van Lint AE, Bootsma AH, Overmars H, Wanders RJ, van Gennip AH (1998) Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry. J Chromatogr B Biomed Sci Appl 713:281-287 (Pubitemid 29034654)
    • (1998) Journal of Chromatography B: Biomedical Applications , vol.713 , Issue.2 , pp. 281-287
    • Vreken, P.1    Van Lint, A.E.M.2    Bootsma, A.H.3    Overmars, H.4    Wanders, R.J.A.5    Van Gennip, A.H.6
  • 26
    • 0025914556 scopus 로고
    • Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis
    • Cali JJ, Hsieh CL, Francke U, Russell DW (1991) Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266:7779-7783 (Pubitemid 21906434)
    • (1991) Journal of Biological Chemistry , vol.266 , Issue.12 , pp. 7779-7783
    • Cali, J.J.1    Hsieh, C.-L.2    Francke, U.3    Russell, D.W.4
  • 36
    • 43149114957 scopus 로고    scopus 로고
    • Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations
    • DOI 10.1212/01.wnl.0000311275.89032.22, PII 0000611420080506000007
    • Nicholson GA, Magdelaine C, Zhu D, Grew S, Ryan MM, Sturtz F, Vallat JM, Ouvrier RA (2008) Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology 70:1678-1681 (Pubitemid 351644134)
    • (2008) Neurology , vol.70 , Issue.19 PART 1 , pp. 1678-1681
    • Nicholson, G.A.1    Magdelaine, C.2    Zhu, D.3    Grew, S.4    Ryan, M.M.5    Sturtz, F.6    Vallat, J.-M.7    Ouvrier, R.A.8
  • 39
    • 0030951104 scopus 로고    scopus 로고
    • Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders
    • DOI 10.1038/ng0497-385
    • Chang CC, Lee WH, Moser H, Valle D, Gould SJ (1997) Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nat Genet 15:385-388 (Pubitemid 27147107)
    • (1997) Nature Genetics , vol.15 , Issue.4 , pp. 385-388
    • Chang, C.-C.1    Lee, W.-H.2    Moser, H.3    Valle, D.4    Gould, S.J.5
  • 41
    • 2942557317 scopus 로고    scopus 로고
    • Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder
    • Gootjes J, Skovby F, Christensen E, Wanders RJ, Ferdinandusse S (2004) Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. Neurology 62:2077-2081 (Pubitemid 38738224)
    • (2004) Neurology , vol.62 , Issue.11 , pp. 2077-2081
    • Gootjes, J.1    Skovby, F.2    Christensen, E.3    Wanders, R.J.A.4    Ferdinandusse, S.5
  • 42
    • 33748997392 scopus 로고    scopus 로고
    • Mutations in RYR1 in malignant hypertheraiia and central core disease
    • DOI 10.1002/humu.20356
    • Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P (2006) Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 27:977-989 (Pubitemid 44454050)
    • (2006) Human Mutation , vol.27 , Issue.10 , pp. 977-989
    • Robinson, R.1    Carpenter, D.2    Shaw, M.-A.3    Halsall, J.4    Hopkins, P.5
  • 43
    • 0022859352 scopus 로고
    • Isolation of a cDNA for human acid apha-glucosidase and detection of genetic heterogeneity for mRNA in three apha-glucosidase-deficient patients
    • Martiniuk F, Mehler M, Pellicer A, Tzall S, La Badie G, Hobart C, Ellenbogen A, Hirschhorn R (1986) Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients. Proc Natl Acad Sci USA 83:9641-9644 (Pubitemid 17223413)
    • (1986) Proceedings of the National Academy of Sciences of the United States of America , vol.83 , Issue.24 , pp. 9641-9644
    • Martiniuk, F.1    Mehler, M.2    Pellicer, A.3
  • 44
    • 0032008694 scopus 로고    scopus 로고
    • Adult-onset glycogen storage disease type II: Phenotypic and allelic heterogeneity in German patients
    • Vorgerd M, Burwinkel B, Reichmann H, Malin JP, Kilimann MW (1998) Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. Neurogenetics 1:205-211 (Pubitemid 128684242)
    • (1998) Neurogenetics , vol.1 , Issue.3 , pp. 205-211
    • Vorgerd, M.1    Burwinkel, B.2    Reichmann, H.3    Malin, J.-P.4    Kilimann, M.W.5
  • 45
    • 0026628784 scopus 로고
    • Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene
    • Fleischman RA (1992) Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. J Clin Invest 89:1713-1717
    • (1992) J Clin Invest , vol.89 , pp. 1713-1717
    • Fleischman, R.A.1
  • 48
    • 78049315502 scopus 로고    scopus 로고
    • Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
    • Buysse K, Vergult S, Mussche S, Ceuterick-de Groote C, Speleman F, Menten B, Lissens W, Van Coster R (2010) Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. Am J Med Genet A 152A:2802-2804
    • (2010) Am J Med Genet A , vol.152 A , pp. 2802-2804
    • Buysse, K.1    Vergult, S.2    Mussche, S.3    Ceuterick-de Groote, C.4    Speleman, F.5    Menten, B.6    Lissens, W.7    Van Coster, R.8
  • 53
    • 0041821401 scopus 로고    scopus 로고
    • Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
    • DOI 10.1093/brain/awg202
    • Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vílchez JJ (2003) Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 126:2023-2033 (Pubitemid 37059442)
    • (2003) Brain , vol.126 , Issue.9 , pp. 2023-2033
    • Sevilla, T.1    Cuesta, A.2    Chumillas, M.J.3    Mayordomo, F.4    Pedrola, L.5    Palau, F.6    Vilchez, J.J.7
  • 55
    • 0029826531 scopus 로고    scopus 로고
    • Eps15 is a component of clathrin-coated pits and vesicles and is located at the rim of coated pits
    • DOI 10.1074/jbc.271.46.28727
    • Tebar F, Sorkina T, Sorkin A, Ericsson M, Kirchhausen T (1996) Eps15 is a component of clathrin-coated pits and vesicles and is located at the rim of coated pits. J Biol Chem 271:28727-28730 (Pubitemid 26382562)
    • (1996) Journal of Biological Chemistry , vol.271 , Issue.46 , pp. 28727-28730
    • Tebar, F.1    Sorkina, T.2    Sorkin, A.3    Ericsson, M.4    Kirchhausen, T.5
  • 57
    • 0028096222 scopus 로고
    • Primary structure, ligand binding, and localization of the human type 3 inositol 1,4,5-trisphosphate receptor expressed in intestinal epithelium
    • Maranto AR (1994) Primary structure, ligand binding, and localization of the human type 3 inositol 1,4,5-trisphosphate receptor expressed in intestinal epithelium. J Biol Chem 269:1222-1230
    • (1994) J Biol Chem , vol.269 , pp. 1222-1230
    • Maranto, A.R.1
  • 58
    • 33845926094 scopus 로고    scopus 로고
    • Signaling proteins in the axoglial apparatus of sciatic nerve nodes of Ranvier
    • DOI 10.1002/glia.20448
    • Toews JC, Schram V, Weerth SH, Mignery GA, Russell JT (2007) Signaling proteins in the axoglial apparatus of sciatic nerve nodes of Ranvier. Glia 55:202-213 (Pubitemid 46036466)
    • (2007) GLIA , vol.55 , Issue.2 , pp. 202-213
    • Toews, J.C.1    Schram, V.2    Weerth, S.H.3    Mignery, G.A.4    Russell, J.T.5
  • 59
    • 34249305132 scopus 로고    scopus 로고
    • A Cul3-Based E3 Ligase Removes Aurora B from Mitotic Chromosomes, Regulating Mitotic Progression and Completion of Cytokinesis in Human Cells
    • DOI 10.1016/j.devcel.2007.03.019, PII S1534580707001190
    • Sumara I, Quadroni M, Frei C, Olma MH, Sumara G, Ricci R, Peter M (2007) A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells. Dev Cell 12:887-900 (Pubitemid 46805917)
    • (2007) Developmental Cell , vol.12 , Issue.6 , pp. 887-900
    • Sumara, I.1    Quadroni, M.2    Frei, C.3    Olma, M.H.4    Sumara, G.5    Ricci, R.6    Peter, M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.