共 5 条
[1]
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
[J].
Bénit, P
;
Chretien, D
;
Kadhom, N
;
de Lonlay-Debeney, P
;
Cormier-Daire, V
;
Cabral, A
;
Peudenier, S
;
Rustin, P
;
Munnich, A
;
Rötig, A
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001, 68 (06)
:1344-1352

Bénit, P
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Serv Genet, INSERM, U393, F-75015 Paris, France

Chretien, D
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Serv Genet, INSERM, U393, F-75015 Paris, France

Kadhom, N
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Serv Genet, INSERM, U393, F-75015 Paris, France

de Lonlay-Debeney, P
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Serv Genet, INSERM, U393, F-75015 Paris, France

Cormier-Daire, V
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Serv Genet, INSERM, U393, F-75015 Paris, France

Cabral, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Serv Genet, INSERM, U393, F-75015 Paris, France

Peudenier, S
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Serv Genet, INSERM, U393, F-75015 Paris, France

Rustin, P
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Serv Genet, INSERM, U393, F-75015 Paris, France

Munnich, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Serv Genet, INSERM, U393, F-75015 Paris, France

Rötig, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Serv Genet, INSERM, U393, F-75015 Paris, France
[2]
Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts
[J].
Chretien, D
;
Bénit, P
;
Chol, M
;
Lebon, S
;
Rötig, A
;
Munnich, A
;
Rustin, P
.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,
2003, 301 (01)
:222-224

Chretien, D
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France

Bénit, P
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France

Chol, M
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France

Lebon, S
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France

Rötig, A
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France

Munnich, A
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France

Rustin, P
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
[3]
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies
[J].
Hoefs, Saskia J. G.
;
Skjeldal, Ola H.
;
Rodenburg, Richard J.
;
Nedregaard, Bard
;
van Kaauwen, Edwin P. M.
;
Spiekerkoetter, Ute
;
von Kleist-Retzow, Juergen-Christoph
;
Smeitink, Jan A. M.
;
Nijtmans, Leo G.
;
van den Heuvel, Lambert P.
.
MOLECULAR GENETICS AND METABOLISM,
2010, 100 (03)
:251-256

Hoefs, Saskia J. G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

Skjeldal, Ola H.
论文数: 0 引用数: 0
h-index: 0
机构:
Innlandet Hosp Thrust, Dept Med Res, Brumuddal, Norway
Innlandet Hosp Thrust, Dept Pediat, Brumuddal, Norway Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

Rodenburg, Richard J.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

Nedregaard, Bard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oslo, Rikshosp, Oslo Univ Hosp, Neuroradiol Dept, N-0027 Oslo, Norway Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

van Kaauwen, Edwin P. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

Spiekerkoetter, Ute
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Univ Childrens Hosp, Dept Gen Pediat, Cologne, Germany Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

von Kleist-Retzow, Juergen-Christoph
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Univ Childrens Hosp, Dept Gen Pediat, Cologne, Germany Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

Smeitink, Jan A. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

Nijtmans, Leo G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

van den Heuvel, Lambert P.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands
[4]
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects
[J].
Pagniez-Mammeri, Helene
;
Lombes, Anne
;
Brivet, Michele
;
Ogier-de Baulny, Helene
;
Landrieu, Pierre
;
Legrand, Alain
;
Slama, Abdelhamid
.
MOLECULAR GENETICS AND METABOLISM,
2009, 96 (04)
:196-200

Pagniez-Mammeri, Helene
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France
Univ Paris 05, Lab Biochim Metab & Clin, EA 3617, Fac Sci Pharmaceut & Biol, Paris, France Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France

Lombes, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U582, Paris, France Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France

Brivet, Michele
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France

Ogier-de Baulny, Helene
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, APHP, Serv Neurol Pediat & Malad Metab, F-75019 Paris, France Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France

Landrieu, Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bicetre, APHP, Serv Neuropediat, F-94275 Le Kremlin Bicetre, France Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France

Legrand, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France
Univ Paris 05, Lab Biochim Metab & Clin, EA 3617, Fac Sci Pharmaceut & Biol, Paris, France Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France

Slama, Abdelhamid
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France Hop Bicetre, APHP, Biochim Lab, F-94275 Le Kremlin Bicetre, France
[5]
BIOCHEMICAL AND MOLECULAR INVESTIGATIONS IN RESPIRATORY-CHAIN DEFICIENCIES
[J].
RUSTIN, P
;
CHRETIEN, D
;
BOURGERON, T
;
GERARD, B
;
ROTIG, A
;
SAUDUBRAY, JM
;
MUNNICH, A
.
CLINICA CHIMICA ACTA,
1994, 228 (01)
:35-51

RUSTIN, P
论文数: 0 引用数: 0
h-index: 0
机构: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Tour Lavoisier, 75743 Paris Cedex 15, 149, rue de Sèvres

CHRETIEN, D
论文数: 0 引用数: 0
h-index: 0
机构: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Tour Lavoisier, 75743 Paris Cedex 15, 149, rue de Sèvres

BOURGERON, T
论文数: 0 引用数: 0
h-index: 0
机构: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Tour Lavoisier, 75743 Paris Cedex 15, 149, rue de Sèvres

GERARD, B
论文数: 0 引用数: 0
h-index: 0
机构: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Tour Lavoisier, 75743 Paris Cedex 15, 149, rue de Sèvres

ROTIG, A
论文数: 0 引用数: 0
h-index: 0
机构: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Tour Lavoisier, 75743 Paris Cedex 15, 149, rue de Sèvres

SAUDUBRAY, JM
论文数: 0 引用数: 0
h-index: 0
机构: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Tour Lavoisier, 75743 Paris Cedex 15, 149, rue de Sèvres

MUNNICH, A
论文数: 0 引用数: 0
h-index: 0
机构: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Tour Lavoisier, 75743 Paris Cedex 15, 149, rue de Sèvres