지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한자기공명의과학회 Investigative Magnetic Resonance Imaging Investigative Magnetic Resonance Imaging 제22권 제2호
- 발행연도
- 2018.1
- 수록면
- 119 - 122 (4page)
이용수
초록· 키워드
오류제보하기
Neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a rare maternally inherited mitochondrial disorder. Radiologic findings in NARP syndrome are varied; they include cerebral and cerebellar atrophy, basal ganglia abnormalities, and on rare occasions, leukoencephalopathy. This article describes an extremely rare case of NARP syndrome mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
목차
등록된 정보가 없습니다.
참고문헌 (8)
참고문헌 신청
Holt IJ / 1990 / A new mitochondrial disease associated with mitochondrial DNA heteroplasmy / Am J Hum Genet 46:428~433
Thorburn DR / Mitochondrial DNA-associated Leigh syndrome and NARP
Gelfand JM / 2011 / Heterogeneous patterns of tissue injury in NARP syndrome / J Neurol 258:440~448
Uziel G / 1997 / Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families / J Neurol Neurosurg Psychiatry 63:16~22
Rojo A / 2006 / NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study / Acta Neuropathol 111:610~616
Thorburn DR / Mitochondrial DNA-associated Leigh syndrome and NARP
Gelfand JM / 2011 / Heterogeneous patterns of tissue injury in NARP syndrome / J Neurol 258:440~448
Uziel G / 1997 / Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families / J Neurol Neurosurg Psychiatry 63:16~22
Rojo A / 2006 / NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study / Acta Neuropathol 111:610~616
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Dental treatment of a patient with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome under general anesthesia: a case report
International Journal of Disability and Oral Health
2022 .12
-
제1형 당뇨병, 소뇌 실조, 진행성 난청을 수반하는 MELAS 증후군 환자 1예
대한이비인후-두경부외과학회지
2023 .06
-
제1형 당뇨병이 발생하여 진단된 MELAS 증후군 1예
대한내과학회지
2015 .01
-
Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report
Journal of genetic medicine
2019 .01
-
Rare Phenotypic Manifestations of MELAS
Yonsei Medical Journal
2020 .01
-
The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
Yonsei Medical Journal
2019 .01
-
다양한 임상경과를 보인 멜라스(MELAS, mitochondrial encephalopathy, lactic acidosis, and stroke-like episode) 증후군 2례
대한유전성대사질환학회지
2016 .01
-
Dexmedetomidine as a non-triggering anesthetic agent in a patient with MELAS syndrome and systemic sepsis - A case report -
Anesthesia and Pain Medicine
2019 .01
-
Magnetic Resonance Imaging and Spectroscopy of the Brain in MELAS Syndrome
전남의대학술지
2023 .01
-
Wolff-Parkinson-White Syndrome in a Patient with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome Mimicking Juvenile Myoclonic Epilepsy
Journal of Clinical Neurology
2018 .01
-
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episode Syndrome Presenting with Prolonged Visual Aura
Journal of Clinical Neurology
2015 .01
-
Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS
Yonsei Medical Journal
2019 .01
-
Radiologic intervention
대한외과학회 학술대회 초록집
2016 .11
-
Vascular compression syndromes: a pictorial review
ULTRASONOGRAPHY
2022 .07
-
The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS
Yonsei Medical Journal
2019 .01
-
Concurrent SHORT syndrome and 3q duplication syndrome
Journal of genetic medicine
2019 .01
-
Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing
Annals of Laboratory Medicine
2020 .01
-
Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome 환자에서 뇌 대사감소
Research in Vestibular Science
2017 .01
-
Reversible Cerebral Vasoconstriction Syndrome and Posterior Reversible Encephalopathy Syndrome Presenting with Deep Intracerebral Hemorrhage in Young Women
Journal of Cerebrovascular and Endovascular Neurosurgery
2015 .01
-
Myotonic Dystrophy Type 1 With Cerebellar Ataxia and Cerebellar Atrophy
Journal of Clinical Neurology
2024 .09
이 논문의 저자 정보
최근 본 자료
댓글(0)
0