참고문헌 (51)

1. Lancet Harding 1 1151 1983 10.1016/S0140-6736(83)92879-9 Classification of the hereditary ataxias and paraplegias 

   상세보기

2. J. Neurol. Sci. Finsterer 318 1 2012 10.1016/j.jns.2012.03.025 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance 

   상세보기

3. Lancet Neurol. Salinas 7 1127 2008 10.1016/S1474-4422(08)70258-8 Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms 

   상세보기

4. M.P. Adam, H.H. Ardinger, R.A. Pagon, S.E. Wallace, L.J.H. Bean, K. Stephens, A. Amemiya (Eds.), Gene Reviews((R)), Seattle (WA) Hedera 1993 Hereditary spastic paraplegia overview 

5. Mol. Neurodegener. Dong 13 36 2018 10.1186/s13024-018-0269-1 Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China 

   상세보기

6. Ann. Neurol. Helbig 80 2016 10.1002/ana.24762 A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia 

   상세보기

7. Ann. Neurol. Schule 79 646 2016 10.1002/ana.24611 Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients 

   상세보기

8. Curr. Neurol. Neurosci. Rep. Saputra 21 15 2021 10.1007/s11910-021-01099-x Challenges and controversies in the genetic diagnosis of hereditary spastic paraplegia 

   상세보기

9. Front. Neurol. D'Amore 9 2018 10.3389/fneur.2018.00981 Next generation molecular diagnosis of hereditary spastic paraplegias: an Italian cross-sectional study 

   상세보기

10. Neuroepidemiology Ruano 42 174 2014 10.1159/000358801 The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies 

    상세보기

11. Handb. Clin. Neurol. Blackstone 148 633 2018 10.1016/B978-0-444-64076-5.00041-7 Hereditary spastic paraplegia 

    상세보기

12. Expert. Rev. Neurother. Elsayed 19 409 2019 10.1080/14737175.2019.1608824 Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies 

    상세보기

13. Rev. Neurol. (Paris) Parodi 173 352 2017 10.1016/j.neurol.2017.03.034 Hereditary spastic paraplegia: more than an upper motor neuron disease 

    상세보기

14. Rev. Neurol. (Paris) Lallemant-Dudek 177 5 550 2020 10.1016/j.neurol.2020.07.001 Clinical and genetic update of hereditary spastic paraparesis 

    상세보기

15. Cerebellum de Souza 16 525 2017 10.1007/s12311-016-0803-z Hereditary spastic paraplegia: clinical and genetic hallmarks 

    상세보기

16. Bioinformatics Li 25 1754 2009 10.1093/bioinformatics/btp324 Fast and accurate short read alignment with Burrows-Wheeler transform 

    상세보기

17. Genome Res. McKenna 20 1297 2010 10.1101/gr.107524.110 The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data 

    상세보기

18. Bioinformatics Ye 25 2865 2009 10.1093/bioinformatics/btp394 Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads 

    상세보기

19. Nucleic Acids Res. Wang 38 2010 10.1093/nar/gkq603 ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data 

    상세보기

20. Science Novarino 343 506 2014 10.1126/science.1247363 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders 

    상세보기

21. Genet. Med. Richards 17 405 2015 10.1038/gim.2015.30 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology 

    상세보기

22. Neurol. Genet. Chrestian 3 2017 10.1212/NXG.0000000000000122 Clinical and genetic study of hereditary spastic paraplegia in Canada 

    상세보기

23. J. Neurol. Sci. Balicza 364 116 2016 10.1016/j.jns.2016.03.018 Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - an analysis of 58 probands 

    상세보기

24. Nat. Protoc. Kelley 10 845 2015 10.1038/nprot.2015.053 The Phyre2 web portal for protein modeling, prediction and analysis 

    상세보기

25. Biochim. Biophys. Acta Mol. basis Dis. Lim 1864 3221 2018 10.1016/j.bbadis.2018.07.009 Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia 

    상세보기

26. Brain Ito 132 8 2009 10.1093/brain/awn216 Seipinopathy: a novel endoplasmic reticulum stress-associated disease 

    상세보기

27. Hum. Mol. Genet. Errico 11 153 2002 10.1093/hmg/11.2.153 Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics 

    상세보기

28. Ann. Neurol. McDermott 54 748 2003 10.1002/ana.10757 Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation 

    상세보기

29. Ann. Clin. Transl. Neurol. Roda 4 347 2017 10.1002/acn3.404 De novo REEP2 missense mutation in pure hereditary spastic paraplegia 

    상세보기

30. Am. J. Hum. Genet. Esteves 94 268 2014 10.1016/j.ajhg.2013.12.005 Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia 

    상세보기

31. Am. J. Hum. Genet. Oates 92 965 2013 10.1016/j.ajhg.2013.04.018 Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia 

    상세보기

32. Orphanet. J. Rare Dis. Fjermestad 11 98 2016 10.1186/s13023-016-0469-0 Health survey of adults with hereditary spastic paraparesis compared to population study controls 

    상세보기

33. J. Neurol. Sci. Proukakis 306 62 2011 10.1016/j.jns.2011.03.043 Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males 

    상세보기

34. Clin. Genet. Sanchez-Ferrero 83 257 2013 10.1111/j.1399-0004.2012.01896.x g. Genetics of Spastic Paraplegia study, SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V 

    상세보기

35. J. Clin. Neuromuscul. Dis. Rinaldi 16 153 2015 10.1097/CND.0000000000000063 A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype 

    상세보기

36. Ann. Clin. Transl. Neurol. Lai 7 1862 2020 10.1002/acn3.51169 Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia 

    상세보기

37. Orphanet. J. Rare Dis. Peng 14 83 2019 10.1186/s13023-019-1053-1 Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review 

    상세보기

38. Cell Rep. Wang 16 79 2016 10.1016/j.celrep.2016.05.044 Defects in the CAPN1 gene result in alterations in cerebellar development and cerebellar ataxia in mice and humans 

    상세보기

39. Sci. Rep. Rehbach 9 9615 2019 10.1038/s41598-019-45246-4 Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neurons 

    상세보기

40. Hum. Mol. Genet. Havlicek 23 2527 2014 10.1093/hmg/ddt644 Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons 

    상세보기

41. Mol. Neurodegener. Zempel 10 68 2015 10.1186/s13024-015-0064-1 Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer disease and hereditary spastic paraplegia 

    상세보기

42. Hum. Mol. Genet. Qiang 28 1136 2019 10.1093/hmg/ddy419 Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse 

    상세보기

43. Ann. Neurol. Lim 78 679 2015 10.1002/ana.24488 Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts 

    상세보기

44. Signal Transduct. Target Ther. Jiang 6 74 2021 10.1038/s41392-020-00450-x The role of m6A modification in the biological functions and diseases 

    상세보기

45. Science Uhlen 347 2015 10.1126/science.1260419 Proteomics. Tissue-based map of the human proteome 

    상세보기

46. J. Neurol. Sci. Park 357 167 2015 10.1016/j.jns.2015.07.024 Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia 

    상세보기

47. J. Inherit. Metab. Dis. Sedel 30 855 2007 10.1007/s10545-007-0745-1 Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach 

    상세보기

48. Brain Coutelier 138 2191 2015 10.1093/brain/awv143 Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia 

    상세보기

49. Front. Neurol. Ma 11 499 2020 10.3389/fneur.2020.00499 Screening for REEP1 mutations in 31 Chinese hereditary spastic paraplegia families 

    상세보기

50. Transl. Neurodegener. Wei 8 19 2019 10.1186/s40035-019-0157-9 Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia 

    상세보기

51. Int. J. Neurosci. Du 128 146 2018 10.1080/00207454.2017.1378878 Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia 

    상세보기

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