共 6 条
[1]
A genetic study of Wilson's disease in the United Kingdom
[J].
Coffey, Alison J.
;
Durkie, Miranda
;
Hague, Stephen
;
McLay, Kirsten
;
Emmerson, Jennifer
;
Lo, Christine
;
Klaffke, Stefanie
;
Joyce, Christopher J.
;
Dhawan, Anil
;
Hadzic, Nedim
;
Mieli-Vergani, Giorgina
;
Kirk, Richard
;
Allen, K. Elizabeth
;
Nicholl, David
;
Wong, Siew
;
Griffiths, William
;
Smithson, Sarah
;
Giffin, Nicola
;
Taha, Ali
;
Connolly, Sally
;
Gillett, Godfrey T.
;
Tanner, Stuart
;
Bonham, Jim
;
Sharrack, Basil
;
Palotie, Aarno
;
Rattray, Magnus
;
Dalton, Ann
;
Bandmann, Oliver
.
BRAIN,
2013, 136
:1476-1487

Coffey, Alison J.
论文数: 0 引用数: 0
h-index: 0
机构: Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Durkie, Miranda
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Hague, Stephen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Dept Neurosci, Sheffield Inst Translat Neurosci SITraN, Sheffield S10 2HQ, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

McLay, Kirsten
论文数: 0 引用数: 0
h-index: 0
机构:
Genome Anal Ctr, Norwich NR4 7UH, Norfolk, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Emmerson, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构: Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Lo, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Dept Neurosci, Sheffield Inst Translat Neurosci SITraN, Sheffield S10 2HQ, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Klaffke, Stefanie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Dept Neurosci, Sheffield Inst Translat Neurosci SITraN, Sheffield S10 2HQ, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Joyce, Christopher J.
论文数: 0 引用数: 0
h-index: 0
机构: Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Dhawan, Anil
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll Hosp London, London SE5 9RS, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Hadzic, Nedim
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll Hosp London, London SE5 9RS, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Mieli-Vergani, Giorgina
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll Hosp London, London SE5 9RS, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Kirk, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Allen, K. Elizabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Nicholl, David
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham City Hosp, Dept Neurol, Birmingham B18 7QH, W Midlands, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Wong, Siew
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham City Hosp, Dept Neurol, Birmingham B18 7QH, W Midlands, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Griffiths, William
论文数: 0 引用数: 0
h-index: 0
机构:
Addenbrookes Hosp, Cambridge CB2 0QQ, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Smithson, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Clin Genet, Bristol BS1 3NU, Avon, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Giffin, Nicola
论文数: 0 引用数: 0
h-index: 0
机构:
Royal United Hosp, Dept Neurol, Bath BA1 3NG, Avon, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Taha, Ali
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Crosshouse, Kilmarnock KA2 0BE, Scotland Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Connolly, Sally
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Sheffield S10 2TH, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Gillett, Godfrey T.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Teaching Hosp, Dept Clin Chem, Sheffield S5 7AU, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Tanner, Stuart
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Sheffield S10 2TH, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Bonham, Jim
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Sheffield S10 2TH, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Sharrack, Basil
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Dept Neurosci, Sheffield Inst Translat Neurosci SITraN, Sheffield S10 2HQ, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Palotie, Aarno
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland
Broad Inst MIT & Harvard, Program Med & Populat Genet & Genet Anal Platform, Cambridge, MA 02142 USA
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Univ Cent Hosp, Helsinki, Finland Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Rattray, Magnus
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Dept Neurosci, Sheffield Inst Translat Neurosci SITraN, Sheffield S10 2HQ, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Dalton, Ann
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England

Bandmann, Oliver
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sheffield, Dept Neurosci, Sheffield Inst Translat Neurosci SITraN, Sheffield S10 2HQ, S Yorkshire, England Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England
[2]
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders
[J].
Fieten, Hille
;
Gill, Yadvinder
;
Martin, Alan J.
;
Concilli, Mafalda
;
Dirksen, Karen
;
van Steenbeek, Frank G.
;
Spee, Bart
;
van den Ingh, Ted S. G. A. M.
;
Martens, Ellen C. C. P.
;
Festa, Paola
;
Chesi, Giancarlo
;
van de Sluis, Bart
;
Houwen, Roderick H. J. H.
;
Watson, Adrian L.
;
Aulchenko, Yurii S.
;
Hodgkinson, Victoria L.
;
Zhu, Sha
;
Petris, Michael J.
;
Polishchuk, Roman S.
;
Leegwater, Peter A. J.
;
Rothuizen, Jan
.
DISEASE MODELS & MECHANISMS,
2016, 9 (01)
:25-38

Fieten, Hille
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Gill, Yadvinder
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Martin, Alan J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Concilli, Mafalda
论文数: 0 引用数: 0
h-index: 0
机构:
WALTHAM Ctr Pet Nutr, Melton Mowbray LE14 4RT, Leics, England Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Dirksen, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

van Steenbeek, Frank G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Spee, Bart
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

van den Ingh, Ted S. G. A. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Telethon Inst Genet & Med TIGEM, Via Campi Flegrei 34, I-80078 Pozzuoli, NA, Italy Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Martens, Ellen C. C. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Festa, Paola
论文数: 0 引用数: 0
h-index: 0
机构:
WALTHAM Ctr Pet Nutr, Melton Mowbray LE14 4RT, Leics, England Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Chesi, Giancarlo
论文数: 0 引用数: 0
h-index: 0
机构:
WALTHAM Ctr Pet Nutr, Melton Mowbray LE14 4RT, Leics, England Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

van de Sluis, Bart
论文数: 0 引用数: 0
h-index: 0
机构:
TCCI Consultancy BV, Cicerolaan 1, NL-3584 AJ Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Houwen, Roderick H. J. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Mol Genet Sect, Dept Pediat, NL-9713 AV Groningen, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Watson, Adrian L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Aulchenko, Yurii S.
论文数: 0 引用数: 0
h-index: 0
机构:
Wilhelmina Childrens Hosp, Univ Med Ctr, Dept Pediat Gastroenterol, Lundlaan 6, NL-3584 EA Utrecht, Netherlands
Novosibirsk State Univ, Novosibirsk 630090, Russia Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Hodgkinson, Victoria L.
论文数: 0 引用数: 0
h-index: 0
机构:
Russian Acad Sci, Inst Cytol & Genet, Novosibirsk 630090, Russia
Univ Missouri, Dept Biochem, Columbia, MO 65211 USA Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Zhu, Sha
论文数: 0 引用数: 0
h-index: 0
机构:
Russian Acad Sci, Inst Cytol & Genet, Novosibirsk 630090, Russia
Univ Missouri, Dept Biochem, Columbia, MO 65211 USA Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Petris, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
Russian Acad Sci, Inst Cytol & Genet, Novosibirsk 630090, Russia
Univ Missouri, Dept Biochem, Columbia, MO 65211 USA
Univ Missouri, Christopher S Bond Life Sci Ctr, Columbia, MO 65211 USA Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Polishchuk, Roman S.
论文数: 0 引用数: 0
h-index: 0
机构:
WALTHAM Ctr Pet Nutr, Melton Mowbray LE14 4RT, Leics, England Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Leegwater, Peter A. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands

Rothuizen, Jan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands Univ Utrecht, Dept Clin Sci Compan Anim, Fac Vet Med, Yalelaan 104, NL-3584 CM Utrecht, Netherlands
[3]
A Golgi localization signal identified in the Menkes recombinant protein
[J].
Francis, MJ
;
Jones, EE
;
Levy, ER
;
Ponnambalam, S
;
Chelly, J
;
Monaco, AP
.
HUMAN MOLECULAR GENETICS,
1998, 7 (08)
:1245-1252

Francis, MJ
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Jones, EE
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Levy, ER
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Ponnambalam, S
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Chelly, J
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Monaco, AP
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
[4]
Small amounts of functional ATP7A protein permit mild phenotype
[J].
Moller, Lisbeth Birk
.
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY,
2015, 31
:173-177

Moller, Lisbeth Birk
论文数: 0 引用数: 0
h-index: 0
机构:
Rigshosp, Kennedy Ctr, Ctr Appl Human Genet, DK-2600 Glostrup, Denmark Rigshosp, Kennedy Ctr, Ctr Appl Human Genet, DK-2600 Glostrup, Denmark
[5]
Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis
[J].
Telianidis, Jonathon
;
Hung, Ya Hui
;
Materia, Stephanie
;
La Fontaine, Sharon
.
FRONTIERS IN AGING NEUROSCIENCE,
2013, 5

Telianidis, Jonathon
论文数: 0 引用数: 0
h-index: 0
机构:
Deakin Univ, Sch Life & Environm Sci, Strateg Res Ctr Mol & Med Res, Burwood, Vic 3125, Australia
Deakin Univ, Sch Life & Environm Sci, Ctr Cellular & Mol Biol, Burwood, Vic 3125, Australia Deakin Univ, Sch Life & Environm Sci, Strateg Res Ctr Mol & Med Res, Burwood, Vic 3125, Australia

Hung, Ya Hui
论文数: 0 引用数: 0
h-index: 0
机构:
Florey Inst Neurosci & Mental Hlth, Oxidat Biol Unit, Parkville, Vic, Australia
Univ Melbourne, Ctr Res Neurosci, Parkville, Vic 3052, Australia Deakin Univ, Sch Life & Environm Sci, Strateg Res Ctr Mol & Med Res, Burwood, Vic 3125, Australia

Materia, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Deakin Univ, Sch Life & Environm Sci, Strateg Res Ctr Mol & Med Res, Burwood, Vic 3125, Australia
Deakin Univ, Sch Life & Environm Sci, Ctr Cellular & Mol Biol, Burwood, Vic 3125, Australia Deakin Univ, Sch Life & Environm Sci, Strateg Res Ctr Mol & Med Res, Burwood, Vic 3125, Australia

La Fontaine, Sharon
论文数: 0 引用数: 0
h-index: 0
机构:
Deakin Univ, Sch Life & Environm Sci, Strateg Res Ctr Mol & Med Res, Burwood, Vic 3125, Australia
Deakin Univ, Sch Life & Environm Sci, Ctr Cellular & Mol Biol, Burwood, Vic 3125, Australia Deakin Univ, Sch Life & Environm Sci, Strateg Res Ctr Mol & Med Res, Burwood, Vic 3125, Australia
[6]
An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome
[J].
Tumer, Zeynep
.
HUMAN MUTATION,
2013, 34 (03)
:417-429

Tumer, Zeynep
论文数: 0 引用数: 0
h-index: 0
机构:
Copenhagen Univ Hosp, Kennedy Ctr, Rigshosp, DK-2600 Glostrup, Denmark Copenhagen Univ Hosp, Kennedy Ctr, Rigshosp, DK-2600 Glostrup, Denmark