共 8 条
[1]
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy
[J].
Campagna, Filomena
;
Nanni, Luisa
;
Quagliarini, Fabiana
;
Pennisi, Elena
;
Michailidis, Constantine
;
Pierelli, Francesco
;
Bruno, Claudio
;
Casali, Carlo
;
DiMauro, Salvatore
;
Arca, Marcello
.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,
2008, 377 (03)
:843-846

Campagna, Filomena
论文数: 0 引用数: 0
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机构:
Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy

Nanni, Luisa
论文数: 0 引用数: 0
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机构:
Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy

Quagliarini, Fabiana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy

Pennisi, Elena
论文数: 0 引用数: 0
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机构:
Osped San Filippo Neri, Rome, Italy Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy

Michailidis, Constantine
论文数: 0 引用数: 0
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机构:
Univ Roma La Sapienza, Polo Pontino Neurol Unit, I-00161 Rome, Italy Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy

Pierelli, Francesco
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Polo Pontino Neurol Unit, I-00161 Rome, Italy Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy

Bruno, Claudio
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Giannina Gaslini, Muscular & Neurodegenerat Dis Unit, I-16148 Genoa, Italy Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy

Casali, Carlo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Polo Pontino Neurol Unit, I-00161 Rome, Italy Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy

DiMauro, Salvatore
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Med Ctr, Dept Neurol, New York, NY USA Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy

Arca, Marcello
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy Univ Roma La Sapienza, Dept Clin & Therapeut Med, I-00161 Rome, Italy
[2]
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
[J].
Fischer, Judith
;
Lefevre, Caroline
;
Morava, Eva
;
Mussini, Jean-Marie
;
Laforet, Pascal
;
Negre-Salvayre, Anne
;
Lathrop, Mark
;
Salvayre, Robert
.
NATURE GENETICS,
2007, 39 (01)
:28-30

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

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

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

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

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

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

Salvayre, Robert
论文数: 0 引用数: 0
h-index: 0
机构: Ctr Natl Genotypage, F-91057 Evry, France
[3]
Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase
[J].
Higashi, Masahiro
;
Hirano, Ken-ichi
;
Kobayashi, Kazuhiro
;
Ikeda, Yoshihiko
;
Issiki, Ami
;
Otsuka, Tetsuo
;
Suzuki, Akira
;
Yamaguchi, Satoshi
;
Zaima, Nobuhiro
;
Hamada, Seiki
;
Hanada, Hironori
;
Suzuki, Chieko
;
Nakamura, Hiroshi
;
Nagasaka, Hironori
;
Miyata, Toshiyuki
;
Miyamoto, Yoshihiro
;
Kobayashi, Kunihisa
;
Naito, Hiroaki
;
Toda, Tatsushi
.
INTERNATIONAL JOURNAL OF CARDIOLOGY,
2015, 192
:30-32

Higashi, Masahiro
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Hirano, Ken-ichi
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutrit Therap, Suita, Osaka 5650874, Japan
Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Suita, Osaka 5650871, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Kobayashi, Kazuhiro
论文数: 0 引用数: 0
h-index: 0
机构:
Kobe Univ, Grad Sch Med, Div Neurol Mol Brain Sci, Kobe, Hyogo 6500017, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Ikeda, Yoshihiko
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cerebral & Cardiovasc Ctr, Dept Pathol, Osaka 5658565, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Issiki, Ami
论文数: 0 引用数: 0
h-index: 0
机构:
Saitama Univ, Saitama Med Ctr, Dept Cardiol, Saitama 3508550, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Otsuka, Tetsuo
论文数: 0 引用数: 0
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机构:
Wakinosawa Clin, Mutsu, Aomori 0395331, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

论文数: 引用数:
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Yamaguchi, Satoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutrit Therap, Suita, Osaka 5650874, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Zaima, Nobuhiro
论文数: 0 引用数: 0
h-index: 0
机构:
Kinki Univ, Grad Sch Agr, Dept Appl Biol Chem, Nara 6318505, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Hamada, Seiki
论文数: 0 引用数: 0
h-index: 0
机构:
MI Clin, Toyonaka, Osaka 5650004, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Hanada, Hironori
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cerebral & Cardiovasc Ctr, Dept Mol Pathogenesis, Suita, Osaka 5658565, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Suzuki, Chieko
论文数: 0 引用数: 0
h-index: 0
机构:
Aomori Prefectural Cent Hosp, Dept Neurol, Aomori 0308553, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Nakamura, Hiroshi
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Org, Hiroshima Nishi Med Ctr, Ootake 7390696, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Nagasaka, Hironori
论文数: 0 引用数: 0
h-index: 0
机构:
Takarazuka City Hosp, Dept Pediat, Takarazuka, Hyogo 6650827, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Miyata, Toshiyuki
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cerebral & Cardiovasc Ctr, Dept Mol Pathogenesis, Suita, Osaka 5658565, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Miyamoto, Yoshihiro
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cerebral & Cardiovasc Ctr, Dept Prevent Cardiol, Osaka 5658565, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Kobayashi, Kunihisa
论文数: 0 引用数: 0
h-index: 0
机构:
Fukuoka Univ, Chikushi Hosp, Dept Endocrinol & Diabet Mellitus, Chikushino, Fukuoka 8188502, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Naito, Hiroaki
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h-index: 0
机构:
Natl Cerebral & Cardiovasc Ctr, Osaka 5658565, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan

Toda, Tatsushi
论文数: 0 引用数: 0
h-index: 0
机构:
Kobe Univ, Grad Sch Med, Div Neurol Mol Brain Sci, Kobe, Hyogo 6500017, Japan Natl Cerebral & Cardiovasc Ctr, Dept Radiol, Suita, Osaka 5658565, Japan
[4]
Triglyceride Deposit Cardiomyovasculopathy
[J].
Hirano, Ken-ichi
;
Ikeda, Yoshihiko
;
Zaima, Nobuhiro
;
Sakata, Yasuhiko
;
Matsumiya, Goro
.
NEW ENGLAND JOURNAL OF MEDICINE,
2008, 359 (22)
:2396-2398

论文数: 引用数:
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Ikeda, Yoshihiko
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cardiovasc Ctr, Osaka 5658565, Japan Osaka Univ, Suita, Osaka 5650871, Japan

Zaima, Nobuhiro
论文数: 0 引用数: 0
h-index: 0
机构:
Hamamatsu Univ Sch Med, Hamamatsu, Shizuoka 4313192, Japan Osaka Univ, Suita, Osaka 5650871, Japan

Sakata, Yasuhiko
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Suita, Osaka 5650871, Japan Osaka Univ, Suita, Osaka 5650871, Japan

Matsumiya, Goro
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Suita, Osaka 5650871, Japan Osaka Univ, Suita, Osaka 5650871, Japan
[5]
Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy
[J].
Hirano, Ken-ichi
;
Tanaka, Tatsuya
;
Ikeda, Yoshihiko
;
Yamaguchi, Satoshi
;
Zaima, Nobuhiro
;
Kobayashi, Kazuhiro
;
Suzuki, Akira
;
Sakata, Yasuhiko
;
Sakata, Yasushi
;
Kobayashi, Kunihisa
;
Toda, Tatsushi
;
Fukushima, Norihide
;
Ishibashi-Ueda, Hatsue
;
Tavian, Daniela
;
Nagasaka, Hironori
;
Hui, Shu-Ping
;
Chiba, Hitoshi
;
Sawa, Yoshiki
;
Hori, Masatsugu
.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,
2014, 443 (02)
:574-579

Hirano, Ken-ichi
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan
Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Suita, Osaka 5650871, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Tanaka, Tatsuya
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Ctr Med Res & Educ, Suita, Osaka 5650871, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Ikeda, Yoshihiko
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cerebral & Cardiovasc Ctr, Dept Pathol, Suita, Osaka 5658565, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Yamaguchi, Satoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan
Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Suita, Osaka 5650871, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Zaima, Nobuhiro
论文数: 0 引用数: 0
h-index: 0
机构:
Kinki Univ, Dept Appl Biochem, Nara 3327204, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Kobayashi, Kazuhiro
论文数: 0 引用数: 0
h-index: 0
机构:
Kobe Univ, Grad Sch Med, Div Neurol Mol Brain Sci, Chuo Ku, Kobe, Hyogo 6500017, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Suzuki, Akira
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan
Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Suita, Osaka 5650871, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Sakata, Yasuhiko
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Suita, Osaka 5650871, Japan
Tohoku Univ, Grad Sch Med, Dept Cardiovasc Med, Aoba Ku, Sendai, Miyagi 9808574, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Sakata, Yasushi
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Suita, Osaka 5650871, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Kobayashi, Kunihisa
论文数: 0 引用数: 0
h-index: 0
机构:
Fukuoka Univ, Chikushi Hosp, Dept Endocrinol & Diabet Mellitus, Fukuoka 8188502, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Toda, Tatsushi
论文数: 0 引用数: 0
h-index: 0
机构:
Kobe Univ, Grad Sch Med, Div Neurol Mol Brain Sci, Chuo Ku, Kobe, Hyogo 6500017, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Fukushima, Norihide
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Dept Cardiovasc Surg, Suita, Osaka 5650871, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Ishibashi-Ueda, Hatsue
论文数: 0 引用数: 0
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机构:
Natl Cerebral & Cardiovasc Ctr, Dept Pathol, Suita, Osaka 5658565, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Tavian, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, CRIBENS, Lab Cellular Biochem & Mol Biol, I-20123 Milan, Italy Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Nagasaka, Hironori
论文数: 0 引用数: 0
h-index: 0
机构:
Takarazuka City Hosptial, Dept Pediat, Takarazuka, Hyogo 6650827, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Hui, Shu-Ping
论文数: 0 引用数: 0
h-index: 0
机构:
Hokkaido Univ, Fac Hlth Sci, Sapporo, Hokkaido 0600812, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Chiba, Hitoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Hokkaido Univ, Fac Hlth Sci, Sapporo, Hokkaido 0600812, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Sawa, Yoshiki
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Dept Cardiovasc Surg, Suita, Osaka 5650871, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan

Hori, Masatsugu
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Suita, Osaka 5650871, Japan Osaka Univ, Grad Sch Med, Lab Cardiovasc Dis Novel Noninvas & Nutr Therapeu, Suita, Osaka 5650874, Japan
[6]
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings
[J].
Missaglia, Sara
;
Tasca, Elisabetta
;
Angelini, Corrado
;
Moro, Laura
;
Tavian, Daniela
.
MOLECULAR GENETICS AND METABOLISM,
2015, 115 (2-3)
:110-117

Missaglia, Sara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Lab Cellular Biochem & Mol Biol, CRIBENS, I-20145 Milan, Italy Univ Cattolica Sacro Cuore, Lab Cellular Biochem & Mol Biol, CRIBENS, I-20145 Milan, Italy

Tasca, Elisabetta
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Osped San Camillo IRCCS, Venice, Italy Univ Cattolica Sacro Cuore, Lab Cellular Biochem & Mol Biol, CRIBENS, I-20145 Milan, Italy

Angelini, Corrado
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Osped San Camillo IRCCS, Venice, Italy Univ Cattolica Sacro Cuore, Lab Cellular Biochem & Mol Biol, CRIBENS, I-20145 Milan, Italy

Moro, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Piemonte Orientale, Dept Pharmaceut Sci, Novara, Italy Univ Cattolica Sacro Cuore, Lab Cellular Biochem & Mol Biol, CRIBENS, I-20145 Milan, Italy

Tavian, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Lab Cellular Biochem & Mol Biol, CRIBENS, I-20145 Milan, Italy
Univ Cattolica Sacro Cuore, Dept Psychol, I-20145 Milan, Italy Univ Cattolica Sacro Cuore, Lab Cellular Biochem & Mol Biol, CRIBENS, I-20145 Milan, Italy
[7]
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
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

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.
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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
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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
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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
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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

Lochmueller, Hanns
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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
[8]
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function
[J].
Tavian, Daniela
;
Missaglia, Sara
;
Redaelli, Chiara
;
Pennisi, Elena M.
;
Invernici, Gloria
;
Wessalowski, Ruediger
;
Maiwald, Robert
;
Arca, Marcello
;
Coleman, Rosalind A.
.
HUMAN MOLECULAR GENETICS,
2012, 21 (24)
:5318-5328

Tavian, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy

Missaglia, Sara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy

Redaelli, Chiara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy

Pennisi, Elena M.
论文数: 0 引用数: 0
h-index: 0
机构:
ACO San Filippo Neri, UOC Neurol, I-00135 Rome, Italy Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy

Invernici, Gloria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy

Wessalowski, Ruediger
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dusseldorf, Clin Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy

Maiwald, Robert
论文数: 0 引用数: 0
h-index: 0
机构:
MVZ Lab Med Microbiol & Human Genet, D-41061 Monchengladbach, Germany Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy

Arca, Marcello
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Dept Internal Med & Appl Sci, I-00161 Rome, Italy Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 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 27599 USA Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20145 Milan, Italy