共 5 条
[1]
X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
[J].
Kemp, Stephan
;
Berger, Johannes
;
Aubourg, Patrick
.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE,
2012, 1822 (09)
:1465-1474

Kemp, Stephan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Dept Clin Chem, NL-1012 WX Amsterdam, Netherlands
Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat Neurol, NL-1012 WX Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Dept Clin Chem, NL-1012 WX Amsterdam, Netherlands

Berger, Johannes
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Ctr Brain Res, Vienna, Austria Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Dept Clin Chem, NL-1012 WX Amsterdam, Netherlands

Aubourg, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Kremlin Bicetre, AP HP, Dept Pediat Neurol, Le Kremlin Bicetre, France
Univ Paris 05, INSERM, UMR745, Paris, France Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Dept Clin Chem, NL-1012 WX Amsterdam, Netherlands
[2]
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing
[J].
Kim, Aryun
;
Kumar, Kishore R.
;
Davis, Ryan L.
;
Mallawaarachchi, Amali C.
;
Gayevskiy, Velimir
;
Minoche, Andre E.
;
Walls, Zachary
;
Kim, Han-Joon
;
Jang, Mihee
;
Cowley, Mark J.
;
Choi, Ji-Hyun
;
Shin, Chaewon
;
Sue, Carolyn M.
;
Jeon, Beomseok
.
CEREBELLUM,
2019, 18 (04)
:781-790

论文数: 引用数:
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机构:

Kumar, Kishore R.
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia
Univ Sydney, Kolling Inst, Dept Neurogenet, Fac Med & Hlth,Northern Clin Sch, St Leonards, NSW, Australia
Royal North Shore Hosp, St Leonards, NSW, Australia
Royal North Shore Hosp, Northern Sydney Local Hlth Dist, Dept Neurol, St Leonards, NSW, Australia
Concord Hosp, Mol Med Lab, Sydney, NSW, Australia Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Davis, Ryan L.
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia
Univ Sydney, Kolling Inst, Dept Neurogenet, Fac Med & Hlth,Northern Clin Sch, St Leonards, NSW, Australia
Royal North Shore Hosp, St Leonards, NSW, Australia Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Mallawaarachchi, Amali C.
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Div Genom & Epigenet, Sydney, NSW, Australia Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Gayevskiy, Velimir
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Minoche, Andre E.
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Walls, Zachary
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia
Univ Sydney, Fac Engn & Informat Technol, Sydney, NSW, Australia Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Kim, Han-Joon
论文数: 0 引用数: 0
h-index: 0
机构:
Seoul Natl Univ, Coll Med, Dept Neurol, Movement Disorder Ctr,Seoul Natl Univ Hosp, Seoul, South Korea Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Jang, Mihee
论文数: 0 引用数: 0
h-index: 0
机构:
Presbyterian Med Ctr, Dept Neurol, Jeonju, South Korea Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Cowley, Mark J.
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia
UNSW Sydney, St Vincents Clin Sch, Sydney, NSW, Australia
UNSW Sydney, Childrens Canc Inst, Sydney, NSW, Australia Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Choi, Ji-Hyun
论文数: 0 引用数: 0
h-index: 0
机构:
Seoul Natl Univ, Coll Med, Dept Neurol, Movement Disorder Ctr,Seoul Natl Univ Hosp, Seoul, South Korea Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Shin, Chaewon
论文数: 0 引用数: 0
h-index: 0
机构:
Kyung Hee Univ, Dept Neurol, Med Ctr, Seoul, South Korea Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Sue, Carolyn M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sydney, Kolling Inst, Dept Neurogenet, Fac Med & Hlth,Northern Clin Sch, St Leonards, NSW, Australia
Royal North Shore Hosp, St Leonards, NSW, Australia
Royal North Shore Hosp, Northern Sydney Local Hlth Dist, Dept Neurol, St Leonards, NSW, Australia Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea

Jeon, Beomseok
论文数: 0 引用数: 0
h-index: 0
机构:
Seoul Natl Univ, Coll Med, Dept Neurol, Movement Disorder Ctr,Seoul Natl Univ Hosp, Seoul, South Korea Chungbuk Natl Univ Hosp, Dept Neurol, Cheongju, South Korea
[3]
X-LINKED ADRENOLEUKODYSTROPHY PRESENTING AS NEUROLOGICALLY PURE FAMILIAL SPASTIC PARAPARESIS
[J].
MARIS, T
;
ANDROULIDAKIS, EJ
;
TZAGOURNISSAKIS, M
;
PAPAVASSILIOU, S
;
MOSER, H
;
PLAITAKIS, A
.
NEUROLOGY,
1995, 45 (06)
:1101-1104

MARIS, T
论文数: 0 引用数: 0
h-index: 0
机构: MT SINAI SCH MED,DEPT NEUROL,NEW YORK,NY 10029

ANDROULIDAKIS, EJ
论文数: 0 引用数: 0
h-index: 0
机构: MT SINAI SCH MED,DEPT NEUROL,NEW YORK,NY 10029

TZAGOURNISSAKIS, M
论文数: 0 引用数: 0
h-index: 0
机构: MT SINAI SCH MED,DEPT NEUROL,NEW YORK,NY 10029

PAPAVASSILIOU, S
论文数: 0 引用数: 0
h-index: 0
机构: MT SINAI SCH MED,DEPT NEUROL,NEW YORK,NY 10029

MOSER, H
论文数: 0 引用数: 0
h-index: 0
机构: MT SINAI SCH MED,DEPT NEUROL,NEW YORK,NY 10029

PLAITAKIS, A
论文数: 0 引用数: 0
h-index: 0
机构: MT SINAI SCH MED,DEPT NEUROL,NEW YORK,NY 10029
[4]
X-linked adrenoleukodystrophy
[J].
Moser, Hugo W.
;
Mahmood, Asif
;
Raymond, Gerald V.
.
NATURE CLINICAL PRACTICE NEUROLOGY,
2007, 3 (03)
:140-151

Moser, Hugo W.
论文数: 0 引用数: 0
h-index: 0
机构: Kennedy Krieger Inst, Neurogenet Res Ctr, Baltimore, MD 21205 USA

Mahmood, Asif
论文数: 0 引用数: 0
h-index: 0
机构: Kennedy Krieger Inst, Neurogenet Res Ctr, Baltimore, MD 21205 USA

Raymond, Gerald V.
论文数: 0 引用数: 0
h-index: 0
机构: Kennedy Krieger Inst, Neurogenet Res Ctr, Baltimore, MD 21205 USA
[5]
Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia
[J].
Zhan, Zi-xiong
;
Liao, Xin-xin
;
Du, Juan
;
Luo, Ying-ying
;
Hu, Zhao-ting
;
Wang, Jun-ling
;
Yan, Xin-xiang
;
Zhang, Jian-guo
;
Dai, Mei-zhi
;
Zhang, Peng
;
Xia, Kun
;
Tang, Bei-sha
;
Shen, Lu
.
EUROPEAN JOURNAL OF MEDICAL GENETICS,
2013, 56 (07)
:375-378

Zhan, Zi-xiong
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Liao, Xin-xin
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Du, Juan
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China
Cent S Univ, Neurodegenerat Disorders Res Ctr, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Luo, Ying-ying
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Hu, Zhao-ting
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Wang, Jun-ling
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China
Cent S Univ, Neurodegenerat Disorders Res Ctr, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Yan, Xin-xiang
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China
Cent S Univ, Neurodegenerat Disorders Res Ctr, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Zhang, Jian-guo
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Guangdong, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Dai, Mei-zhi
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Guangdong, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Zhang, Peng
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Guangdong, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Xia, Kun
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, State Key Lab Med Genet, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Tang, Bei-sha
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China
Cent S Univ, Neurodegenerat Disorders Res Ctr, Changsha 410008, Hunan, Peoples R China
Cent S Univ, State Key Lab Med Genet, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Shen, Lu
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China
Cent S Univ, Neurodegenerat Disorders Res Ctr, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China