연구동향 분석

Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy

박형준 김승민 신하영 강훈철 최병옥 서범천 김호진 최영철 이필휴 2014년

논문상세정보
인용/피인용
' Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • 의학
  • abcd1
  • adrenoleukodystrophy
  • adrenomyeloneuropathy
  • ataxia
  • verylongchainfattyacid
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
7,610 0

0.0%

' Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy' 의 참고문헌

  • 모야모야병이 동반된 성인형 부신백질이양증 1예
    김용철 Endocrinology and Metabolism 24 1 58-62 [2009]
  • X-linked adrenoleukodystrophy: spinocerebellar variant
    Tan EK Clin Neurol Neurosurg 101 137-140 [1999]
  • X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
    Kemp S Biochim Biophys Acta 1822 1465-1474 [2012]
  • X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
    Engelen M Orphanet J Rare Dis 7 51- [2012]
  • X-linked adrenoleukodystrophy
    Moser HW Nat Clin Pract Neurol 3 140-151 [2007]
  • The Genetically Modified Polysialylated Form of Neural Cell Adhesion Molecule-Positive Cells for Potential Treatment of X-Linked Adrenoleukodystrophy
    장지호 Yonsei Medical Journal 54 1 246-252 [2013]
  • Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein
    Ligtenberg MJ Am J Hum Genet 56 44-50 [1995]
  • Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
    Mosser J Nature 361 726-730 [1993]
  • Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation
    Soardi FC Arq Bras Endocrinol Metabol 54 738-743 [2010]
  • Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins
    Sobue G Ann Neurol 36 912-915 [1994]
  • Peroxisomal leukoencephalopathy
    Poll-The BT Semin Neurol 32 42-50 [2012]
  • Nerve conduction studies in adrenomyeloneuropathy
    Chaudhry V J Neurol Neurosurg Psychiatry 61 181-185 [1996]
  • Mutational analysis of patients with X-linked adrenoleukodystrophy
    Kok F Hum Mutat 6 104-115 [1995]
  • MRI of adrenoleukodystrophy involving predominantly the cerebellum and brain stem
    Waragai M Neuroradiology 38 788-791 [1996]
  • Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy
    Kobayashi T J Neurol Neurosurg Psychiatry 49 1438-1440 [1986]
  • Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy
    van Geel BM Ann Neurol 49 186-194 [2001]
  • Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy
    Matsumoto H Clin Neurol Neurosurg 112 131-136 [2010]
  • Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy
    Ochi K AJNR Am J Neuroradiol 19 1904- [1998]
  • Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene
    Sutovský S J Neurol Sci 263 149-153 [2007]
  • Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy
    Powers JM J Neuropathol Exp Neurol 59 89-102 [2000]
  • Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy
    Ohno T J Neurol 231 167-169 [1984]
  • Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy
    Boehm CD Mol Genet Metab 66 128-136 [1999]
  • Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: comparison with magnetic resonance imaging and clinical findings
    Restuccia D Muscle Nerve 20 1249-1257 [1997]
  • ABCD1 유전자 Trp77-Leu82del 돌연변이가 확인된 대뇌부신척수신경병증
    이규선 대한신경과학회지 29 4 356-360 [2011]
  • ABCD1 mutations and the Xlinked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations
    Kemp S Hum Mutat 18 499-515 [2001]
  • A case of adrenomyeloneuropathy confirmed by serum very long chain fatty acids level
    Park HJ J Korean Neurol Assoc 19 427-430 [2001]
  • A case of adrenomyeloneuropathy
    Suk SH J Korean Neurol Assoc 9 262-268 [1991]
  • A case of adrenomyeloneuropathy
    Jeong JP J Korean Neurol Assoc 19 431-434 [2001]