共 98 条
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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
[J].
Byrne, Susan
;
Jansen, Lara
;
U-King-Im, Jean-Marie
;
Siddiqui, Ata
;
Lidov, Hart G. W.
;
Bodi, Istvan
;
Smith, Luke
;
Mein, Rachael
;
Cullup, Thomas
;
Dionisi-Vici, Carlo
;
Al-Gazali, Lihadh
;
Al-Owain, Mohammed
;
Bruwer, Zandre
;
Al Thihli, Khalid
;
El-Garhy, Rana
;
Flanigan, Kevin M.
;
Manickam, Kandamurugu
;
Zmuda, Erik
;
Banks, Wesley
;
Gershoni-Baruch, Ruth
;
Mandel, Hanna
;
Dagan, Efrat
;
Raas-Rothschild, Annick
;
Barash, Hila
;
Filloux, Francis
;
Creel, Donnell
;
Harris, Michael
;
Hamosh, Ada
;
Koelker, Stefan
;
Ebrahimi-Fakhari, Darius
;
Hoffmann, Georg F.
;
Manchester, David
;
Boyer, Philip J.
;
Manzur, Adnan Y.
;
Lourenco, Charles Marques
;
Pilz, Daniela T.
;
Kamath, Arveen
;
Prabhakar, Prab
;
Rao, Vamshi K.
;
Rogers, R. Curtis
;
Ryan, Monique M.
;
Brown, Natasha J.
;
McLean, Catriona A.
;
Said, Edith
;
Schara, Ulrike
;
Stein, Anja
;
Sewry, Caroline
;
Travan, Laura
;
Wijburg, Frits A.
;
Zenker, Martin
.
BRAIN,
2016, 139
:765-781

Byrne, Susan
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Jansen, Lara
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, IoPPN, Dept Basic & Clin Neurosci, London WC2R 2LS, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

U-King-Im, Jean-Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Dept Neuroradiol, London, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Siddiqui, Ata
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Dept Neuroradiol, London, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Lidov, Hart G. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Dept Pathol, Boston, MA 02115 USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Bodi, Istvan
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Dept Clin Neuropathol, London WC2R 2LS, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Smith, Luke
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Muscle Signalling Sect, Randall Div Cell & Mol Biophys, London WC2R 2LS, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Mein, Rachael
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, Viapath, London SE1 9RT, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Cullup, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Reg Mol Genet Lab, Great Ormond St, London WC1N 3JH, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Dionisi-Vici, Carlo
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Childrens Res Hosp, Dept Paediat Med, Div Metab, Rome, Italy Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Al-Gazali, Lihadh
论文数: 0 引用数: 0
h-index: 0
机构:
United Arab Emirates Univ, Fac Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Al-Owain, Mohammed
论文数: 0 引用数: 0
h-index: 0
机构:
Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Bruwer, Zandre
论文数: 0 引用数: 0
h-index: 0
机构:
Sultan Qaboos Univ Hosp, Genet & Dev Med Clin, Muscat, Oman Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Al Thihli, Khalid
论文数: 0 引用数: 0
h-index: 0
机构:
Sultan Qaboos Univ Hosp, Genet & Dev Med Clin, Muscat, Oman Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

El-Garhy, Rana
论文数: 0 引用数: 0
h-index: 0
机构:
Ain Shams Univ, Cairo, Egypt Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Flanigan, Kevin M.
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Ctr Gene Therapy, Columbus, OH USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Manickam, Kandamurugu
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Res Inst, Ctr Human & Mol Genet, Columbus, OH USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Zmuda, Erik
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Res Inst, Ctr Human & Mol Genet, Columbus, OH USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Banks, Wesley
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Res Inst, Ctr Human & Mol Genet, Columbus, OH USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Gershoni-Baruch, Ruth
论文数: 0 引用数: 0
h-index: 0
机构:
Rambam Hlth Care Campus, Inst Human Genet, Haifa, Israel
Techn Fac Med, Haifa, Israel Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Mandel, Hanna
论文数: 0 引用数: 0
h-index: 0
机构:
Techn Fac Med, Haifa, Israel
Meyer Childrens Hosp, Rambam Hlth Care Campus, Metab Dis Unit, Haifa, Israel Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Dagan, Efrat
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Haifa, Dept Nursing, IL-31999 Haifa, Israel Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Raas-Rothschild, Annick
论文数: 0 引用数: 0
h-index: 0
机构:
Chaim Sheba Med Ctr, Inst Genet, Inst Rare Dis, IL-52621 Tel Hashomer, Israel
Tel Aviv Univ, Sackler Sch Med, Ramat Aviv, Israel Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Barash, Hila
论文数: 0 引用数: 0
h-index: 0
机构:
Chaim Sheba Med Ctr, Inst Genet, Inst Rare Dis, IL-52621 Tel Hashomer, Israel
Tel Aviv Univ, Sackler Sch Med, Ramat Aviv, Israel Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Filloux, Francis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Sch Med, Div Pediat Neurol, Salt Lake City, UT USA
Primary Childrens Med Ctr, Salt Lake City, UT 84103 USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Creel, Donnell
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Sch Med, Moran Eye Ctr, Salt Lake City, UT USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

论文数: 引用数:
h-index:
机构:

Hamosh, Ada
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Koelker, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Div Child Neurol & Metab Med, Heidelberg, Germany Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Ebrahimi-Fakhari, Darius
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Div Child Neurol & Metab Med, Heidelberg, Germany Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Hoffmann, Georg F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Div Child Neurol & Metab Med, Heidelberg, Germany Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Manchester, David
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Sch Med, Dept Pediat, Sect Clin Genet & Metab, Aurora, CO USA
Childrens Hosp Colorado, Aurora, CO USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Boyer, Philip J.
论文数: 0 引用数: 0
h-index: 0
机构:
E Carolina Univ, Brody Sch Med, Dept Pathol, Brody Med Sci Bldg, Greenville, NC 27834 USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Manzur, Adnan Y.
论文数: 0 引用数: 0
h-index: 0
机构:
ICH, Dubowitz Neuromuscular Ctr, London, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Lourenco, Charles Marques
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Sch Med Ribeirao Preto, Med Genet Unit, BR-05508 Sao Paulo, Brazil Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Pilz, Daniela T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Kamath, Arveen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Prabhakar, Prab
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Dept Paediat Neurol, Great Ormond St, London WC1N 3JH, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Rao, Vamshi K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nebraska Med Ctr, Omaha, NE USA
Childrens Hosp & Med Ctr, Omaha, NE USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Rogers, R. Curtis
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, Greenville, SC USA Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Ryan, Monique M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Royal Childrens Hosp & Paediat, Dept Neurol, Melbourne, Australia
Murdoch Childrens Res Inst, Melbourne, Australia Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Brown, Natasha J.
论文数: 0 引用数: 0
h-index: 0
机构:
Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia
Univ Melbourne, Dept Paediat, Parkville, Vic 3052, Australia
Austin Hlth, Dept Clin Genet, Heidelberg, Vic, Australia Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

McLean, Catriona A.
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred Hlth, Dept Anat Pathol, Heidelberg, Vic, Australia Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Said, Edith
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Malta, Dept Anat & Cell Biol, Msida, Malta
Mater dei Hosp, Med Genet Sect, Msida, Malta Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

论文数: 引用数:
h-index:
机构:

Stein, Anja
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Duisburg Essen, Univ Childrens Hosp, Dept Neonatol, Essen, Germany Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Sewry, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Child Hlth, Dubowitz Neuromuscular Ctr, 30 Guilford St, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, 30 Guilford St, London WC1N 3JH, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Travan, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Wijburg, Frits A.
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Zenker, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England
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Axonal autophagosomes use the ride-on service for retrograde transport toward the soma
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Cheng, Xiu-Tang
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AUTOPHAGY,
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Cheng, Xiu-Tang
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机构:
NINDS, Synapt Funct Sect, NIH, Bethesda, MD 20892 USA NINDS, Synapt Funct Sect, NIH, Bethesda, MD 20892 USA

Zhou, Bing
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h-index: 0
机构:
NINDS, Synapt Funct Sect, NIH, Bethesda, MD 20892 USA NINDS, Synapt Funct Sect, NIH, Bethesda, MD 20892 USA

Lin, Mei-Yao
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机构:
NINDS, Synapt Funct Sect, NIH, Bethesda, MD 20892 USA NINDS, Synapt Funct Sect, NIH, Bethesda, MD 20892 USA

Cai, Qian
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机构:
Rutgers State Univ, Dept Cell Biol & Neurosci, Piscataway, NJ USA NINDS, Synapt Funct Sect, NIH, Bethesda, MD 20892 USA

Sheng, Zu-Hang
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NINDS, Synapt Funct Sect, NIH, Bethesda, MD 20892 USA NINDS, Synapt Funct Sect, NIH, Bethesda, MD 20892 USA
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Mem Univ Newfoundland, Div Biomed Sci, Fac Med, St John, NF A1B 3V6, Canada Mem Univ Newfoundland, Div Biomed Sci, Fac Med, St John, NF A1B 3V6, Canada

Mearow, Karen
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Mem Univ Newfoundland, Div Biomed Sci, Fac Med, St John, NF A1B 3V6, Canada Mem Univ Newfoundland, Div Biomed Sci, Fac Med, St John, NF A1B 3V6, Canada
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Loss of Autophagy in Pro-opiomelanocortin Neurons Perturbs Axon Growth and Causes Metabolic Dysregulation
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Coupe, Berengere
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机构:
Univ So Calif, Childrens Hosp Los Angeles, Neurosci Program, Saban Res Inst, Los Angeles, CA 90027 USA Univ So Calif, Childrens Hosp Los Angeles, Neurosci Program, Saban Res Inst, Los Angeles, CA 90027 USA

Ishii, Yuko
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Univ So Calif, Childrens Hosp Los Angeles, Neurosci Program, Saban Res Inst, Los Angeles, CA 90027 USA Univ So Calif, Childrens Hosp Los Angeles, Neurosci Program, Saban Res Inst, Los Angeles, CA 90027 USA

Dietrich, Marcelo O.
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Yale Univ, Sch Med, Comparat Med Sect, Program Integrat Cell Signaling & Neurobiol Metab, New Haven, CT 06520 USA
Univ Fed Rio Grande do Sul, Dept Biochem, BR-90035 Porto Alegre, RS, Brazil Univ So Calif, Childrens Hosp Los Angeles, Neurosci Program, Saban Res Inst, Los Angeles, CA 90027 USA

Komatsu, Masaaki
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Tokyo Metropolitan Inst Med Sci, Lab Frontier Sci, Bunkyo Ku, Tokyo 1138613, Japan
Juntendo Univ, Sch Med, Dept Biochem, Bunkyo Ku, Tokyo 1138421, Japan
Japan Sci & Technol Corp, PRESTO, Kawaguchi, Saitama 3320012, Japan Univ So Calif, Childrens Hosp Los Angeles, Neurosci Program, Saban Res Inst, Los Angeles, CA 90027 USA

Horvath, Tamas L.
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Yale Univ, Sch Med, Comparat Med Sect, Program Integrat Cell Signaling & Neurobiol Metab, New Haven, CT 06520 USA Univ So Calif, Childrens Hosp Los Angeles, Neurosci Program, Saban Res Inst, Los Angeles, CA 90027 USA

Bouret, Sebastien G.
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Univ So Calif, Childrens Hosp Los Angeles, Neurosci Program, Saban Res Inst, Los Angeles, CA 90027 USA
Univ Lille 2, Jean Pierre Aubert Res Ctr, INSERM, U837, F-59045 Lille, France Univ So Calif, Childrens Hosp Los Angeles, Neurosci Program, Saban Res Inst, Los Angeles, CA 90027 USA
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Autophagy is inhibited by ubiquitin ligase activity in the nervous system
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Crawley, Oliver
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Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA

Opperman, Karla J.
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Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA

Desbois, Muriel
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Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA

Adrados, Isabel
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Scripps Res Inst, Dept Mol Med, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA

Borgen, Melissa A.
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h-index: 0
机构:
Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA

Giles, Andrew C.
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h-index: 0
机构:
Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA

Duckett, Derek R.
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Scripps Res Inst, Dept Mol Med, Jupiter, FL 33458 USA
H Lee Moffitt Canc Ctr & Res Inst, Dept Drug Discovery, Tampa, FL 33612 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA

Grill, Brock
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Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA
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Crawley, Oliver
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Scripps Res Inst, Dept Neurosci, Jupiter, FL 10550 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 10550 USA

Giles, Andrew C.
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Scripps Res Inst, Dept Neurosci, Jupiter, FL 10550 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 10550 USA

Desbois, Muriel
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Scripps Res Inst, Dept Neurosci, Jupiter, FL 10550 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 10550 USA

Kashyap, Sudhanva
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Scripps Res Inst, Dept Neurosci, Jupiter, FL 10550 USA Scripps Res Inst, Dept Neurosci, Jupiter, FL 10550 USA

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Grill, Brock
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
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Dionisi-Vici, Carlo
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Brandmeier, Birgit
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Smith, Frances
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Urry, Zoe
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Simpson, Michael A.
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Yau, Shu
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Bertini, Enrico
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McClelland, Verity
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Al-Owain, Mohammed
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Koelker, Stefan
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Koerner, Christian
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Hoffmann, Georg F.
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Wijburg, Frits A.
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ten Hoedt, Amber E.
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Rogers, R. Curtis
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Manchester, David
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Miyata, Rie
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Hayashi, Masaharu
;
Said, Elizabeth
;
Soler, Doriette
;
Kroisel, Peter M.
;
Windpassinger, Christian
;
Filloux, Francis M.
;
Al-Kaabi, Salwa
;
Hertecant, Jozef
;
Del Campo, Miguel
;
Buk, Stefan
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Bodi, Istvan
;
Goebel, Hans-Hilmar
;
Sewry, Caroline A.
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Abbs, Stephen
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Mohammed, Shehla
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Josifova, Dragana
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Gautel, Mathias
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Jungbluth, Heinz
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NATURE GENETICS,
2013, 45 (01)
:83-+

Cullup, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, DNA Lab, London SE1 9RT, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Kho, Ay Lin
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, British Heart Fdn Ctr Res Excellence, Div Cardiovasc, London WC2R 2LS, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Dionisi-Vici, Carlo
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Ist Ricovero & Cure Carattere Sci, Div Metab, Rome, Italy
Bambino Gesu Pediat Hosp, Ist Ricovero & Cure Carattere Sci, Mol Med Lab, Rome, Italy Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Brandmeier, Birgit
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Randall Div Cell & Mol Biophys, London WC2R 2LS, England
Kings Coll London, British Heart Fdn Ctr Res Excellence, Div Cardiovasc, London WC2R 2LS, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Smith, Frances
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, DNA Lab, London SE1 9RT, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Urry, Zoe
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London WC2R 2LS, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Simpson, Michael A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London WC2R 2LS, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Yau, Shu
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, DNA Lab, London SE1 9RT, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Bertini, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Ist Ricovero & Cure Carattere Sci, Mol Med Lab, Rome, Italy Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

McClelland, Verity
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Al-Owain, Mohammed
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia
Alfaisal Univ, Fac Med, Riyadh, Saudi Arabia Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Koelker, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Div Inherited Metab Dis, Heidelberg, Germany Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Koerner, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Div Inherited Metab Dis, Heidelberg, Germany Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Hoffmann, Georg F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Div Inherited Metab Dis, Heidelberg, Germany Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Wijburg, Frits A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

ten Hoedt, Amber E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Rogers, R. Curtis
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, Greenville, SC USA Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Manchester, David
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Dept Pediat Clin Genet & Metab, Sch Med, Childrens Hosp Colorado, Aurora, CO USA Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Miyata, Rie
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Kita Shakai Hoken Hosp, Dept Pediat, Tokyo, Japan Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Hayashi, Masaharu
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Metropolitan Inst Med Sci, Dept Brain Dev & Neural Regenerat, Tokyo 113, Japan Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Said, Elizabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Mater Dei Hosp, Med Genet Sect, Msida, Malta
Univ Malta, Dept Anat & Cell Biol, Msida, Malta Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Soler, Doriette
论文数: 0 引用数: 0
h-index: 0
机构:
Mater Hosp, Dept Paediat, Msida, Malta Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Kroisel, Peter M.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Graz, Inst Human Genet, Graz, Austria Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Windpassinger, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Graz, Inst Human Genet, Graz, Austria Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Filloux, Francis M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Sch Med, Div Pediat Neurol, Salt Lake City, UT USA Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Al-Kaabi, Salwa
论文数: 0 引用数: 0
h-index: 0
机构:
Tawam Hosp, Dept Pediat, Al Ain, U Arab Emirates Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Hertecant, Jozef
论文数: 0 引用数: 0
h-index: 0
机构:
Tawam Hosp, Dept Pediat, Al Ain, U Arab Emirates Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Del Campo, Miguel
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Valle De Hebron, Dept Genet, Barcelona, Spain Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Buk, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll Hosp London, Dept Clin Neuropathol, Acad Neurosci Ctr, London, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Bodi, Istvan
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll Hosp London, Dept Clin Neuropathol, Acad Neurosci Ctr, London, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Goebel, Hans-Hilmar
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Gutenberg Univ Mainz, Dept Neuropathol, Med Ctr, Mainz, Germany Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Sewry, Caroline A.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dubowitz Neuromuscular Ctr, Inst Child Hlth, London, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Abbs, Stephen
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, DNA Lab, London SE1 9RT, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Mohammed, Shehla
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, Dept Clin Genet, London SE1 9RT, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Josifova, Dragana
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, Dept Clin Genet, London SE1 9RT, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Gautel, Mathias
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Randall Div Cell & Mol Biophys, London WC2R 2LS, England
Kings Coll London, British Heart Fdn Ctr Res Excellence, Div Cardiovasc, London WC2R 2LS, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England

Jungbluth, Heinz
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England
Kings Coll London, Inst Psychiat, Clin Neurosci Div, London WC2R 2LS, England Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Dept Paediat Neurol, Evelina Childrens Hosp, London, England
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NATURE COMMUNICATIONS,
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Davies, Alexandra K.
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h-index: 0
机构:
Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England

Ltzhak, Daniel N.
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h-index: 0
机构:
Max Planck Inst Biochem, Dept Prote & Signal Transduct, D-82152 Martinsried, Germany Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England

Edgar, James R.
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h-index: 0
机构:
Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England

Archuleta, Tara L.
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h-index: 0
机构:
Vanderbilt Univ, Dept Biol Sci, Nashville, TN 37235 USA
Vanderbilt Univ, Ctr Struct Biol, Nashville, TN 37235 USA Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England

Hirst, Jennifer
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h-index: 0
机构:
Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England

Jackson, Lauren P.
论文数: 0 引用数: 0
h-index: 0
机构:
Vanderbilt Univ, Dept Biol Sci, Nashville, TN 37235 USA
Vanderbilt Univ, Ctr Struct Biol, Nashville, TN 37235 USA Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England

Robinson, Margaret S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England

Borner, Georg H. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Max Planck Inst Biochem, Dept Prote & Signal Transduct, D-82152 Martinsried, Germany Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England
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Cuitino, Loreto
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Jarnik, Michal
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Hoffmann, Victoria
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Morris, H. Douglas
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Han, Tae-Un
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PLOS GENETICS,
2018, 14 (04)

De Pace, Raffaella
论文数: 0 引用数: 0
h-index: 0
机构:
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Skirzewski, Miguel
论文数: 0 引用数: 0
h-index: 0
机构:
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Mol Neurobiol, NIH, Bethesda, MD USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

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Mattera, Rafael
论文数: 0 引用数: 0
h-index: 0
机构:
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Mercurio, Jeffrey
论文数: 0 引用数: 0
h-index: 0
机构:
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Foster, Arianne M.
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h-index: 0
机构:
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Cuitino, Loreto
论文数: 0 引用数: 0
h-index: 0
机构:
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Jarnik, Michal
论文数: 0 引用数: 0
h-index: 0
机构:
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Hoffmann, Victoria
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Div Vet Resources, Bldg 10, Bethesda, MD 20892 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Morris, H. Douglas
论文数: 0 引用数: 0
h-index: 0
机构:
NINDS, NIH Mouse Imaging Facil, NIH Magnet Resonance Facil, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Han, Tae-Un
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h-index: 0
机构:
Natl Inst Deafness & Other Commun Disorders, Lab Commun Disorders, NIH, Bethesda, MD USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Mancini, Grazia M. S.
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h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Buonanno, Andre A. S.
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h-index: 0
机构:
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Mol Neurobiol, NIH, Bethesda, MD USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA

Bonifacino, Juan S.
论文数: 0 引用数: 0
h-index: 0
机构:
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Neurobiol Branch, NIH, Bethesda, MD 20746 USA
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NATURE REVIEWS MOLECULAR CELL BIOLOGY,
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Dikic, Ivan
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机构:
Goethe Univ, Sch Med, Inst Biochem 2, Frankfurt, Germany
Goethe Univ, Buchmann Inst Mol Life Sci, Frankfurt, Germany Goethe Univ, Sch Med, Inst Biochem 2, Frankfurt, Germany

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