共 7 条
Neurological Wilson's disease lethal for the son, asymptomatic in the father
被引:9
作者:

Denoyer, Yves
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h-index: 0
机构:
CHU Pontchaillou, Serv Neurol, F-35033 Rennes, France CHU Pontchaillou, Serv Neurol, F-35033 Rennes, France

Woimant, France
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Lariboisiere, F-75475 Paris, France CHU Pontchaillou, Serv Neurol, F-35033 Rennes, France

Bost, Muriel
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h-index: 0
机构:
CMR Wilson, Ctr Biol & Pathol Est, Lab Malad Hereditaires Metab & Neurogenet Mol, Bron, France CHU Pontchaillou, Serv Neurol, F-35033 Rennes, France

Edan, Gilles
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h-index: 0
机构:
CHU Pontchaillou, Serv Neurol, F-35033 Rennes, France CHU Pontchaillou, Serv Neurol, F-35033 Rennes, France

Drapier, Sophie
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h-index: 0
机构:
CHU Pontchaillou, Serv Neurol, F-35033 Rennes, France CHU Pontchaillou, Serv Neurol, F-35033 Rennes, France
机构:
[1] CHU Pontchaillou, Serv Neurol, F-35033 Rennes, France
[2] Hop Lariboisiere, F-75475 Paris, France
[3] CMR Wilson, Ctr Biol & Pathol Est, Lab Malad Hereditaires Metab & Neurogenet Mol, Bron, France
关键词:
MUTATIONS;
ATP7B;
GENE;
D O I:
10.1002/mds.25290
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
引用
收藏
页码:402 / 403
页数:2
相关论文
共 7 条
[1]
Genetics of Wilsons disease
[J].
Behari, Madhuri
;
Pardasani, Vibhor
.
PARKINSONISM & RELATED DISORDERS,
2010, 16 (10)
:639-644

Behari, Madhuri
论文数: 0 引用数: 0
h-index: 0
机构:
All India Inst Med Sci, Dept Neurol, New Delhi 110029, India All India Inst Med Sci, Dept Neurol, New Delhi 110029, India

Pardasani, Vibhor
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Human Behav & Allied Sci, Dept Neurol, New Delhi, India All India Inst Med Sci, Dept Neurol, New Delhi 110029, India
[2]
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
[J].
Gromadzka, G
;
Schmidt, HHJ
;
Genschel, J
;
Bochow, B
;
Rodo, M
;
Tarnacka, B
;
Litwin, T
;
Chabik, G
;
Czlonkowska, A
.
CLINICAL GENETICS,
2005, 68 (06)
:524-532

Gromadzka, G
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland

Schmidt, HHJ
论文数: 0 引用数: 0
h-index: 0
机构: Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland

Genschel, J
论文数: 0 引用数: 0
h-index: 0
机构: Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland

Bochow, B
论文数: 0 引用数: 0
h-index: 0
机构: Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland

Rodo, M
论文数: 0 引用数: 0
h-index: 0
机构: Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland

Tarnacka, B
论文数: 0 引用数: 0
h-index: 0
机构: Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland

Litwin, T
论文数: 0 引用数: 0
h-index: 0
机构: Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland

Chabik, G
论文数: 0 引用数: 0
h-index: 0
机构: Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland

Czlonkowska, A
论文数: 0 引用数: 0
h-index: 0
机构: Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland
[3]
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)
[J].
Panagiotakaki, E
;
Tzetis, M
;
Manolaki, N
;
Loudianos, G
;
Papatheodorou, A
;
Manesis, E
;
Nousia-Arvanitakis, S
;
Syriopoulou, V
;
Kanavakis, E
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2004, 131A (02)
:168-173

Panagiotakaki, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Athens, St Sophias Childrens Hosp, Athens 11527, Greece

Tzetis, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Athens, St Sophias Childrens Hosp, Athens 11527, Greece

Manolaki, N
论文数: 0 引用数: 0
h-index: 0
机构: Univ Athens, St Sophias Childrens Hosp, Athens 11527, Greece

Loudianos, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Athens, St Sophias Childrens Hosp, Athens 11527, Greece

Papatheodorou, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Athens, St Sophias Childrens Hosp, Athens 11527, Greece

Manesis, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Athens, St Sophias Childrens Hosp, Athens 11527, Greece

Nousia-Arvanitakis, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Athens, St Sophias Childrens Hosp, Athens 11527, Greece

Syriopoulou, V
论文数: 0 引用数: 0
h-index: 0
机构: Univ Athens, St Sophias Childrens Hosp, Athens 11527, Greece

Kanavakis, E
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Athens, St Sophias Childrens Hosp, Athens 11527, Greece Univ Athens, St Sophias Childrens Hosp, Athens 11527, Greece
[4]
Genotype phenotype correlation in Wilson's disease within families-a report on four south Indian families
[J].
Santhosh, S.
;
Shaji, R. V.
;
Eapen, C. E.
;
Jayanthi, V.
;
Malathi, S.
;
Finny, P.
;
Thomas, N.
;
Chandy, M.
;
Kurian, G.
;
Chandy, G. M.
.
WORLD JOURNAL OF GASTROENTEROLOGY,
2008, 14 (29)
:4672-4676

Santhosh, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India

Shaji, R. V.
论文数: 0 引用数: 0
h-index: 0
机构:
Christian Med Coll & Hosp, Dept Haematol, Vellore, Tamil Nadu, India Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India

Eapen, C. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India

Jayanthi, V.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanley Med Coll, Dept Med Gastroenterol, Madras, Tamil Nadu, India Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India

Malathi, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Child Hlth, Dept Pediat, Madras, Tamil Nadu, India Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India

Finny, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Christian Med Coll & Hosp, Dept Endocrinol, Vellore, Tamil Nadu, India Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India

Thomas, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Christian Med Coll & Hosp, Dept Endocrinol, Vellore, Tamil Nadu, India Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India

Chandy, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Christian Med Coll & Hosp, Dept Haematol, Vellore, Tamil Nadu, India Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India

Kurian, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India

Chandy, G. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India Christian Med Coll & Hosp, Dept Gastrointestinal Sci, Vellore, Tamil Nadu, India
[5]
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease:: results of a meta-analysis
[J].
Stapelbroek, JM
;
Bollen, CW
;
van Amstel, JKP
;
van Erpecum, KJ
;
van Hattum, J
;
van den Berg, LH
;
Klomp, LWJ
;
Houwen, RHJ
.
JOURNAL OF HEPATOLOGY,
2004, 41 (05)
:758-763

Stapelbroek, JM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Gastroenterol, Ctr Med, NL-3508 AB Utrecht, Netherlands

Bollen, CW
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Gastroenterol, Ctr Med, NL-3508 AB Utrecht, Netherlands

van Amstel, JKP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Gastroenterol, Ctr Med, NL-3508 AB Utrecht, Netherlands

van Erpecum, KJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Gastroenterol, Ctr Med, NL-3508 AB Utrecht, Netherlands

van Hattum, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Gastroenterol, Ctr Med, NL-3508 AB Utrecht, Netherlands

van den Berg, LH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Gastroenterol, Ctr Med, NL-3508 AB Utrecht, Netherlands

Klomp, LWJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Gastroenterol, Ctr Med, NL-3508 AB Utrecht, Netherlands

Houwen, RHJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Gastroenterol, Ctr Med, NL-3508 AB Utrecht, Netherlands
[6]
Wilson disease - Description of 282 patients evaluated over 3 decades
[J].
Taly, Arun B.
;
Meenakshi-Sundaram, S.
;
Sinha, Sanjib
;
Swamy, H. S.
;
Arunodaya, G. R.
.
MEDICINE,
2007, 86 (02)
:112-121

Taly, Arun B.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India

Meenakshi-Sundaram, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India

Sinha, Sanjib
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India

Swamy, H. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India

Arunodaya, G. R.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India
[7]
Wilson disease.
[J].
Woimant, F.
;
Chaine, P.
;
Favrole, P.
;
Mikol, J.
;
Chappuis, P.
.
REVUE NEUROLOGIQUE,
2006, 162 (6-7)
:773-781

Woimant, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Lariboisiere, Ctr Natl Reference B Pepin Malad Wilson, Serv Neurol, F-75475 Paris, France Hop Lariboisiere, Ctr Natl Reference B Pepin Malad Wilson, Serv Neurol, F-75475 Paris, France

Chaine, P.
论文数: 0 引用数: 0
h-index: 0
机构: Hop Lariboisiere, Ctr Natl Reference B Pepin Malad Wilson, Serv Neurol, F-75475 Paris, France

Favrole, P.
论文数: 0 引用数: 0
h-index: 0
机构: Hop Lariboisiere, Ctr Natl Reference B Pepin Malad Wilson, Serv Neurol, F-75475 Paris, France

Mikol, J.
论文数: 0 引用数: 0
h-index: 0
机构: Hop Lariboisiere, Ctr Natl Reference B Pepin Malad Wilson, Serv Neurol, F-75475 Paris, France

Chappuis, P.
论文数: 0 引用数: 0
h-index: 0
机构: Hop Lariboisiere, Ctr Natl Reference B Pepin Malad Wilson, Serv Neurol, F-75475 Paris, France