共 6 条
[1]
Aguglia U, 2000, ANN NEUROL, V47, P260, DOI 10.1002/1531-8249(200002)47:2<260::AID-ANA21>3.0.CO
[2]
2-V
[3]
The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone
[J].
Anttonen, AK
;
Mahjneh, I
;
Hämäläinen, RH
;
Lagier-Tourenne, C
;
Kopra, O
;
Waris, L
;
Anttonen, M
;
Joensuu, T
;
Kalimo, H
;
Paetau, A
;
Tranebjaerg, L
;
Chaigne, D
;
Koenig, M
;
Eeg-Olofsson, O
;
Udd, B
;
Somer, M
;
Somer, H
;
Lehesjoki, AE
.
NATURE GENETICS,
2005, 37 (12)
:1309-1311

Anttonen, AK
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Mahjneh, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Hämäläinen, RH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Lagier-Tourenne, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Kopra, O
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Waris, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Anttonen, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Joensuu, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Kalimo, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Paetau, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Tranebjaerg, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Chaigne, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Koenig, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Eeg-Olofsson, O
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Udd, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Somer, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Somer, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

Lehesjoki, AE
论文数: 0 引用数: 0
h-index: 0
机构: Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland
[4]
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders
[J].
Jones, B
;
Jones, EL
;
Bonney, SA
;
Patel, HN
;
Mensenkamp, AR
;
Eichenbaum-Voline, S
;
Rudling, M
;
Myrdal, U
;
Annesi, G
;
Naik, S
;
Meadovvs, N
;
Quattrone, A
;
Islam, SA
;
Naoumova, RP
;
Angelin, B
;
Infante, R
;
Levy, E
;
Roy, CC
;
Freemont, PS
;
Scott, J
;
Shoulders, CC
.
NATURE GENETICS,
2003, 34 (01)
:29-31

Jones, B
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h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Jones, EL
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h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Bonney, SA
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Patel, HN
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Mensenkamp, AR
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Eichenbaum-Voline, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Rudling, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Myrdal, U
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Annesi, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Naik, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Meadovvs, N
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Quattrone, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Islam, SA
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Naoumova, RP
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Angelin, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Infante, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Levy, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Roy, CC
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Freemont, PS
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Scott, J
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

Shoulders, CC
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England
[5]
Homozygosity mapping of Marinesco-Sjogren syndrome to 5q31
[J].
Lagier-Tourenne, C
;
Tranebjærg, L
;
Chaigne, D
;
Gribaa, M
;
Dollfus, H
;
Silvestri, G
;
Bétard, C
;
Warter, JM
;
Koenig, M
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2003, 11 (10)
:770-778

Lagier-Tourenne, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg 1, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries BP10142, F-67404 Illkirch Graffenstaden, CU Strasbourg, France

Tranebjærg, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg 1, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries BP10142, F-67404 Illkirch Graffenstaden, CU Strasbourg, France

Chaigne, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg 1, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries BP10142, F-67404 Illkirch Graffenstaden, CU Strasbourg, France

Gribaa, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg 1, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries BP10142, F-67404 Illkirch Graffenstaden, CU Strasbourg, France

Dollfus, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg 1, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries BP10142, F-67404 Illkirch Graffenstaden, CU Strasbourg, France

Silvestri, G
论文数: 0 引用数: 0
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机构: Univ Strasbourg 1, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries BP10142, F-67404 Illkirch Graffenstaden, CU Strasbourg, France

Bétard, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg 1, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries BP10142, F-67404 Illkirch Graffenstaden, CU Strasbourg, France

Warter, JM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg 1, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries BP10142, F-67404 Illkirch Graffenstaden, CU Strasbourg, France

Koenig, M
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Strasbourg 1, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries BP10142, F-67404 Illkirch Graffenstaden, CU Strasbourg, France Univ Strasbourg 1, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries BP10142, F-67404 Illkirch Graffenstaden, CU Strasbourg, France
[6]
Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
[J].
Senderek, J
;
Krieger, M
;
Stendel, C
;
Bergmann, C
;
Moser, M
;
Breitbach-Faller, N
;
Rudnik-Schöneborn, S
;
Blaschek, A
;
Wolf, NI
;
Harting, I
;
North, K
;
Smith, J
;
Muntoni, F
;
Brockington, M
;
Quijano-Roy, S
;
Renault, F
;
Herrmann, R
;
Hendershot, LM
;
Schröder, JM
;
Lochmüller, H
;
Topaloglu, H
;
Voit, T
;
Weis, J
;
Ebinger, F
;
Zerres, K
.
NATURE GENETICS,
2005, 37 (12)
:1312-1314

Senderek, J
论文数: 0 引用数: 0
h-index: 0
机构:
Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Krieger, M
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机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Stendel, C
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h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Bergmann, C
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h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Moser, M
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Breitbach-Faller, N
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Rudnik-Schöneborn, S
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Blaschek, A
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Wolf, NI
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Harting, I
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

North, K
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Smith, J
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Muntoni, F
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Brockington, M
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Quijano-Roy, S
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Renault, F
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Herrmann, R
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Hendershot, LM
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Schröder, JM
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Lochmüller, H
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Topaloglu, H
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Voit, T
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Weis, J
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Ebinger, F
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

Zerres, K
论文数: 0 引用数: 0
h-index: 0
机构: Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany