共 7 条
[1]
LATE-ONSET RESPIRATORY FAILURE DUE TO TK2 MUTATIONS CAUSING MULTIPLE mtDNA DELETIONS
[J].
Alston, Charlotte L.
;
Schaefer, Andrew M.
;
Raman, Pravrutha
;
Solaroli, Nicola
;
Krishnan, Kim J.
;
Blakely, Emma L.
;
He, Langping
;
Craig, Kate
;
Roberts, Mark
;
Vyas, Aashish
;
Nixon, John
;
Horvath, Rita
;
Turnbull, Douglass M.
;
Karlsson, Anna
;
Gorman, Grainne S.
;
Taylor, Robert W.
.
NEUROLOGY,
2013, 81 (23)
:2051-2053

Alston, Charlotte L.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Schaefer, Andrew M.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Raman, Pravrutha
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Solaroli, Nicola
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Inst, Stockholm, Sweden Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Krishnan, Kim J.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Blakely, Emma L.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

He, Langping
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Craig, Kate
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Roberts, Mark
论文数: 0 引用数: 0
h-index: 0
机构:
Hope Hosp, Salford M6 8HD, Lancs, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Vyas, Aashish
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Preston Hosp, Preston, Lancs, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Nixon, John
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Preston Hosp, Preston, Lancs, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Horvath, Rita
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Turnbull, Douglass M.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

论文数: 引用数:
h-index:
机构:

Gorman, Grainne S.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

论文数: 引用数:
h-index:
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[2]
Adult cases of mitochondrial DNA depletion due to TK2 defect An expanding spectrum
[J].
Behin, A.
;
Jardel, C.
;
Claeys, K. G.
;
Fagart, J.
;
Louha, M.
;
Romero, N. B.
;
Laforet, P.
;
Eymard, B.
;
Lombes, A.
.
NEUROLOGY,
2012, 78 (09)
:644-648

Behin, A.
论文数: 0 引用数: 0
h-index: 0
机构:
GH Pitie Salpetriere, APHP, Ctr Reference Pathol Neuromusculaire Paris Est, Inst Myol, Paris, France GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France

Jardel, C.
论文数: 0 引用数: 0
h-index: 0
机构:
GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France
Hop La Pitie Salpetriere, INSERM, UMRS 975, Paris, France
Hop La Pitie Salpetriere, CNRS, UMR 7225, Paris, France GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France

Claeys, K. G.
论文数: 0 引用数: 0
h-index: 0
机构:
GH Pitie Salpetriere, APHP, Lab Pathol Musculaire Risler, Inst Myol, Paris, France
RWTH Univ Hosp Aachen, Inst Neuropathol, Aachen, Germany
RWTH Univ Hosp Aachen, Neurol Klin, Aachen, Germany GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France

Fagart, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Fac Med Paris Sud, INSERM, UMRS 693, Le Kremlin Bicetre, France GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France

Louha, M.
论文数: 0 引用数: 0
h-index: 0
机构:
GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France

Romero, N. B.
论文数: 0 引用数: 0
h-index: 0
机构:
GH Pitie Salpetriere, APHP, Lab Pathol Musculaire Risler, Inst Myol, Paris, France GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France

Laforet, P.
论文数: 0 引用数: 0
h-index: 0
机构:
GH Pitie Salpetriere, APHP, Ctr Reference Pathol Neuromusculaire Paris Est, Inst Myol, Paris, France GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France

Eymard, B.
论文数: 0 引用数: 0
h-index: 0
机构:
GH Pitie Salpetriere, APHP, Ctr Reference Pathol Neuromusculaire Paris Est, Inst Myol, Paris, France
Hop La Pitie Salpetriere, UPMC, Paris, France GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France

Lombes, A.
论文数: 0 引用数: 0
h-index: 0
机构:
GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France
Hop La Pitie Salpetriere, INSERM, UMRS 975, Paris, France
Hop La Pitie Salpetriere, CNRS, UMR 7225, Paris, France
Hop La Pitie Salpetriere, UPMC, Paris, France GH Pitie Salpetriere, APHP, Unite Cardiogenet & Myogenet Mol & Cellulaire, Paris, France
[3]
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene
[J].
Chanprasert, Sirisak
;
Wang, Jing
;
Weng, Shao-Wen
;
Enns, Gregory M.
;
Boue, Daniel R.
;
Wong, Brenda L.
;
Mendell, Jerry R.
;
Perry, Deborah A.
;
Sahenk, Zarife
;
Craigen, William J.
;
Climent Alcala, Francisco J.
;
Pascual, Juan M.
;
Melancon, Serge
;
Zhang, Victor Wei
;
Scaglia, Fernando
;
Wong, Lee-Jun C.
.
MOLECULAR GENETICS AND METABOLISM,
2013, 110 (1-2)
:153-161

Chanprasert, Sirisak
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA

Wang, Jing
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA

Weng, Shao-Wen
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA
Chang Gung Univ, Coll Med, Kaohsiung Med Ctr, Dept Internal Med,Chang Gung Mem Hosp, Kaohsiung, Taiwan Baylor Coll Med, Houston, TX 77030 USA

Enns, Gregory M.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA USA Baylor Coll Med, Houston, TX 77030 USA

Boue, Daniel R.
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH USA
Nationwide Childrens Hosp, Clin Neuromuscular Lab, Columbus, OH USA Baylor Coll Med, Houston, TX 77030 USA

Wong, Brenda L.
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Pediat Neurol, Cincinnati, OH 45229 USA Baylor Coll Med, Houston, TX 77030 USA

Mendell, Jerry R.
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Res Inst, Columbus, OH USA Baylor Coll Med, Houston, TX 77030 USA

Perry, Deborah A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp & Med Ctr, Dept Pathol, Omaha, NE USA Baylor Coll Med, Houston, TX 77030 USA

Sahenk, Zarife
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH USA
Nationwide Childrens Hosp, Clin Neuromuscular Lab, Columbus, OH USA Baylor Coll Med, Houston, TX 77030 USA

Craigen, William J.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA
Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA

Climent Alcala, Francisco J.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp La Paz, Madrid, Spain Baylor Coll Med, Houston, TX 77030 USA

Pascual, Juan M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas SW Med Ctr Dallas, Dallas, TX 75390 USA Baylor Coll Med, Houston, TX 77030 USA

Melancon, Serge
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Div Med Genet, Montreal, PQ, Canada Baylor Coll Med, Houston, TX 77030 USA

Zhang, Victor Wei
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA

Scaglia, Fernando
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA
Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA

Wong, Lee-Jun C.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA
[4]
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene
[J].
Mancuso, M
;
Filosto, M
;
Bonilla, E
;
Hirano, M
;
Shanske, S
;
Vu, TH
;
DiMauro, S
.
ARCHIVES OF NEUROLOGY,
2003, 60 (07)
:1007-1009

Mancuso, M
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

Filosto, M
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

Bonilla, E
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

Hirano, M
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

Shanske, S
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

Vu, TH
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

DiMauro, S
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA
[5]
TK2 MUTATION PRESENTING AS INDOLENT MYOPATHY
[J].
Paradas, Carmen
;
Rios, Purificacion Gutierrez
;
Rivas, Eloy
;
Carbonell, Pilar
;
Hirano, Michio
;
DiMauro, Salvatore
.
NEUROLOGY,
2013, 80 (05)
:504-506

论文数: 引用数:
h-index:
机构:

Rios, Purificacion Gutierrez
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10027 USA Univ Seville, CSIC, Hosp Univ Virgen del Rocio,Inst Biomed Sevilla, Unidad Enfermedades Neuromusculares,Serv Neurol, Seville, Spain

Rivas, Eloy
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain Univ Seville, CSIC, Hosp Univ Virgen del Rocio,Inst Biomed Sevilla, Unidad Enfermedades Neuromusculares,Serv Neurol, Seville, Spain

Carbonell, Pilar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Seville, CSIC, Hosp Univ Virgen del Rocio,Inst Biomed Sevilla, Unidad Enfermedades Neuromusculares,Serv Neurol, Seville, Spain Univ Seville, CSIC, Hosp Univ Virgen del Rocio,Inst Biomed Sevilla, Unidad Enfermedades Neuromusculares,Serv Neurol, Seville, Spain

Hirano, Michio
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10027 USA Univ Seville, CSIC, Hosp Univ Virgen del Rocio,Inst Biomed Sevilla, Unidad Enfermedades Neuromusculares,Serv Neurol, Seville, Spain

DiMauro, Salvatore
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Neurol, Med Ctr, New York, NY 10027 USA Univ Seville, CSIC, Hosp Univ Virgen del Rocio,Inst Biomed Sevilla, Unidad Enfermedades Neuromusculares,Serv Neurol, Seville, Spain
[6]
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
[J].
Tyynismaa, Henna
;
Sun, Ren
;
Ahola-Erkkila, Sofia
;
Almusa, Henrikki
;
Poyhonen, Rosanna
;
Korpela, Mari
;
Honkaniemi, Jari
;
Isohanni, Pirjo
;
Paetau, Anders
;
Wang, Liya
;
Suomalainen, Anu
.
HUMAN MOLECULAR GENETICS,
2012, 21 (01)
:66-75

Tyynismaa, Henna
论文数: 0 引用数: 0
h-index: 0
机构:
Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland

Sun, Ren
论文数: 0 引用数: 0
h-index: 0
机构:
Biomed Ctr, SLU, Sect Vet Med Biochem, Dept Anat Physiol & Biochem, SE-75123 Uppsala, Sweden Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland

Ahola-Erkkila, Sofia
论文数: 0 引用数: 0
h-index: 0
机构:
Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland

Almusa, Henrikki
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki 00290, Finland Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland

Poyhonen, Rosanna
论文数: 0 引用数: 0
h-index: 0
机构:
Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland

Korpela, Mari
论文数: 0 引用数: 0
h-index: 0
机构:
Helsinki Univ Cent Hosp, Dept Neurol, Helsinki 00290, Finland Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland

Honkaniemi, Jari
论文数: 0 引用数: 0
h-index: 0
机构:
Tampere Univ Hosp, Tampere 33520, Finland Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland

Isohanni, Pirjo
论文数: 0 引用数: 0
h-index: 0
机构:
Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland

Paetau, Anders
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Dept Pathol, Helsinki 00290, Finland Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland

Wang, Liya
论文数: 0 引用数: 0
h-index: 0
机构:
Biomed Ctr, SLU, Sect Vet Med Biochem, Dept Anat Physiol & Biochem, SE-75123 Uppsala, Sweden Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland

Suomalainen, Anu
论文数: 0 引用数: 0
h-index: 0
机构:
Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland
Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki 00290, Finland
Helsinki Univ Cent Hosp, Dept Neurol, Helsinki 00290, Finland Biomedicum Helsinki, Res Programs Unit, Mol Neurol, Helsinki 00290, Finland
[7]
Reversion of mtDNA depletion in a patient with TK2 deficiency
[J].
Vilà, MR
;
Segovia-Silvestre, T
;
Gámez, J
;
Marina, A
;
Naini, AB
;
Meseguer, A
;
Lombès, A
;
Bonilla, E
;
DiMauro, S
;
Hirano, M
;
Andreu, AL
.
NEUROLOGY,
2003, 60 (07)
:1203-1205

Vilà, MR
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain

Segovia-Silvestre, T
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain

Gámez, J
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain

Marina, A
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain

Naini, AB
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain

Meseguer, A
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain

Lombès, A
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain

Bonilla, E
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain

DiMauro, S
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain

Hirano, M
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain

Andreu, AL
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain