共 5 条
[1]
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
[J].
Lefevre, C
;
Jobard, F
;
Caux, F
;
Bouadjar, B
;
Karaduman, A
;
Heilig, R
;
Lakhdar, H
;
Wollenberg, A
;
Verret, JL
;
Weissenbach, J
;
Özgüc, M
;
Lathrop, M
;
Prud'homme, JF
;
Fischer, J
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001, 69 (05)
:1002-1012

Lefevre, C
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Jobard, F
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Caux, F
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Bouadjar, B
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

论文数: 引用数:
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机构:

Heilig, R
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Lakhdar, H
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Wollenberg, A
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Verret, JL
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Weissenbach, J
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Özgüc, M
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Lathrop, M
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Prud'homme, JF
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France

Fischer, J
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France
[2]
Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene
[J].
Redaelli, Chiara
;
Coleman, Rosalind A.
;
Moro, Laura
;
Dacou-Voutetakis, Catherine
;
Elsayed, Solaf Mohamed
;
Prati, Daniele
;
Colli, Agostino
;
Mela, Donatella
;
Colombo, Roberto
;
Tavian, Daniela
.
ORPHANET JOURNAL OF RARE DISEASES,
2010, 5

Redaelli, Chiara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy

Coleman, Rosalind A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Nutr, Chapel Hill, NC USA Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy

Moro, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Piemonte Orientale, DiSCAFF Dept, Novara, Italy Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy

Dacou-Voutetakis, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Athens, Dept Paediat, GR-10679 Athens, Greece Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy

Elsayed, Solaf Mohamed
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Med Genet, Cairo, Egypt Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy

Prati, Daniele
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Alessandro Manzoni, Dept Transfus Med & Hematol, Lecce, Italy
Osped Maggiore Policlin, IRCCS Fdn Ca Granda, Ctr Transfus Med Cellular Therapy & CryoBiol, Milan, Italy Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy

Colli, Agostino
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Alessandro Manzoni, Dept Internal Med, Lecce, Italy Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy

Mela, Donatella
论文数: 0 引用数: 0
h-index: 0
机构:
Santa Corona Hosp, Dept Internal Med, Pietra Ligure, Italy Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy

Colombo, Roberto
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ, Gemelli Hosp, Inst Biochem & Clin Biochem, Rome, Italy Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy

Tavian, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy
[3]
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene
[J].
Reilich, Peter
;
Horvath, Rita
;
Krause, Sabine
;
Schramm, Nicolai
;
Turnbull, Doug M.
;
Trenell, Michael
;
Hollingsworth, Kieren G.
;
Gorman, Grainne S.
;
Hans, Volkmar H.
;
Reimann, Jens
;
MacMillan, Andree
;
Turner, Lesley
;
Schollen, Annette
;
Witte, Gregor
;
Czermin, Birgit
;
Holinski-Feder, Elke
;
Walter, Maggie C.
;
Schoser, Benedikt
;
Lochmueller, Hanns
.
JOURNAL OF NEUROLOGY,
2011, 258 (11)
:1987-1997

Reilich, Peter
论文数: 0 引用数: 0
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机构:
Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Horvath, Rita
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Newcastle Univ, Inst Ageing & Hlth, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Ctr Med Genet, Munich, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Krause, Sabine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Schramm, Nicolai
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Dept Clin Radiol, Munich, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Turnbull, Doug M.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Ageing & Hlth, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Trenell, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Ageing & Hlth, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Hollingsworth, Kieren G.
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Gorman, Grainne S.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Ageing & Hlth, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Hans, Volkmar H.
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Reimann, Jens
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Bonn, Dept Neurol, Bonn, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

MacMillan, Andree
论文数: 0 引用数: 0
h-index: 0
机构:
Mem Univ, Prov Med Genet Program, St John, NF, Canada Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Turner, Lesley
论文数: 0 引用数: 0
h-index: 0
机构:
Mem Univ, Prov Med Genet Program, St John, NF, Canada
Mem Univ, Fac Med, St John, NF, Canada Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Schollen, Annette
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Inst Clin Chem, Munich, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Witte, Gregor
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Dept Biochem, Gene Ctr, Ctr Integrated Prot Sci, Munich, Germany
Univ Munich, Munich Ctr Adv Photon, Munich, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Czermin, Birgit
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Med Genet, Munich, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Holinski-Feder, Elke
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Med Genet, Munich, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Walter, Maggie C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Schoser, Benedikt
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Lochmueller, Hanns
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
[4]
Inherited ichthyoses/generalized Mendelian disorders of cornification
[J].
Schmuth, Matthias
;
Martinz, Verena
;
Janecke, Andreas R.
;
Fauth, Christine
;
Schossig, Anna
;
Zschocke, Johannes
;
Gruber, Robert
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2013, 21 (02)
:123-133

Schmuth, Matthias
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Dept Dermatol & Venereol, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Dermatol & Venereol, A-6020 Innsbruck, Austria

Martinz, Verena
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h-index: 0
机构:
Med Univ Innsbruck, Dept Dermatol & Venereol, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Dermatol & Venereol, A-6020 Innsbruck, Austria

Janecke, Andreas R.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Div Human Genet, A-6020 Innsbruck, Austria
Med Univ Innsbruck, Dept Pediat 2, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Dermatol & Venereol, A-6020 Innsbruck, Austria

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Schossig, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Div Human Genet, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Dermatol & Venereol, A-6020 Innsbruck, Austria

Zschocke, Johannes
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Div Human Genet, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Dermatol & Venereol, A-6020 Innsbruck, Austria

Gruber, Robert
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h-index: 0
机构:
Med Univ Innsbruck, Dept Dermatol & Venereol, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Dermatol & Venereol, A-6020 Innsbruck, Austria
[5]
Intracellular Lipid Droplet-Associated Proteins: Unique Members and Their Biological Functions
[J].
Yamaguchi, Tomohiro
.
BIOLOGICAL & PHARMACEUTICAL BULLETIN,
2010, 33 (03)
:342-345

Yamaguchi, Tomohiro
论文数: 0 引用数: 0
h-index: 0
机构:
Showa Univ, Sch Pharmaceut Sci, Shinagawa Ku, Tokyo 1428555, Japan Showa Univ, Sch Pharmaceut Sci, Shinagawa Ku, Tokyo 1428555, Japan