共 50 条
[41]
Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations
[J].
Kwon, Hye Mi
;
Kim, Hyun Su
;
Kim, Sang Beom
;
Park, Jae Hong
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Nam, Da Eun
;
Lee, Ah Jin
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Nam, Soo Hyun
;
Hwang, Soohyun
;
Chung, Ki Wha
;
Choi, Byung-Ok
.
LIFE-BASEL,
2021, 11 (06)

Kwon, Hye Mi
论文数: 0 引用数: 0
h-index: 0
机构:
Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea

Kim, Hyun Su
论文数: 0 引用数: 0
h-index: 0
机构:
Sungkyunkwan Univ, Samsung Med Ctr, Dept Radiol, Sch Med, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea

Kim, Sang Beom
论文数: 0 引用数: 0
h-index: 0
机构:
Kyung Hee Univ, Kyung Hee Univ Hosp Gangdong, Dept Neurol, Coll Med, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea

Park, Jae Hong
论文数: 0 引用数: 0
h-index: 0
机构:
Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea

Nam, Da Eun
论文数: 0 引用数: 0
h-index: 0
机构:
Kongju Natl Univ, Dept Biol Sci, Gongju 32588, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea

Lee, Ah Jin
论文数: 0 引用数: 0
h-index: 0
机构:
Kongju Natl Univ, Dept Biol Sci, Gongju 32588, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea

Nam, Soo Hyun
论文数: 0 引用数: 0
h-index: 0
机构:
Samsung Med Ctr, Inst Stem Cell & Regenerat Med, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea

Hwang, Soohyun
论文数: 0 引用数: 0
h-index: 0
机构:
Sungkyunkwan Univ, Samsung Med Ctr, Dept Pathol & Translat Med, Sch Med, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea

论文数: 引用数:
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机构:

Choi, Byung-Ok
论文数: 0 引用数: 0
h-index: 0
机构:
Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea
Samsung Med Ctr, Inst Stem Cell & Regenerat Med, Seoul 06351, South Korea
Sungkyunkwan Univ, Dept Hlth Sci & Technol, SAIHST, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea
[42]
Demyelinating Charcot-Marie-Tooth neuropathy associated withFBLN5mutations
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Brozkova, D. Safka
;
Stojkovic, T.
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Haberlova, J.
;
Mazanec, R.
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Windhager, R.
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Rosenegger, P. Fernandes
;
Hacker, S.
;
Zuchner, S.
;
Kochanski, A.
;
Leonard-Louis, S.
;
Francou, B.
;
Latour, P.
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Senderek, J.
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Seeman, P.
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Auer-Grumbach, M.
.
EUROPEAN JOURNAL OF NEUROLOGY,
2020, 27 (12)
:2568-2574

Brozkova, D. Safka
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic
Motol Univ Hosp, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

Stojkovic, T.
论文数: 0 引用数: 0
h-index: 0
机构:
G H Pitie Salpetriere, APHP, Inst Myol, Ctr Reference Malad Neuromusculaires Nord Est Ile, Paris, France Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

Haberlova, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic
Motol Univ Hosp, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

Mazanec, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Motol Univ Hosp, Prague, Czech Republic
Charles Univ Prague, Fac Med 2, Dept Neurol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

论文数: 引用数:
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Rosenegger, P. Fernandes
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Orthopaed & Trauma Surg, A-1090 Vienna, Austria Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

论文数: 引用数:
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机构:

Zuchner, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Dr John T Macdonald Fdn, John P Hussman Inst Human Genom, Miller Sch Med,Dept Human Genet, Miami, FL USA Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

Kochanski, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Polish Acad Sci, Mossakowski Med Res Ctr, Neuromuscular Unit, Warsaw, Poland Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

Leonard-Louis, S.
论文数: 0 引用数: 0
h-index: 0
机构:
G H Pitie Salpetriere, Unite Pathol Neuromusculaire, Ctr Reference Malad Neuromusculaires Nord Est Ile, APHP, Paris, France Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

Francou, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Kremlin Bicetre, Serv Genet Mol Pharmacogenet & Hormonol, APHP, Paris, France Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

Latour, P.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Lyon, Serv Biochim & Biol Mol Grand Est, GH Est, Bron, France Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

Senderek, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, Munich, Germany Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

Seeman, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic
Motol Univ Hosp, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic

Auer-Grumbach, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Orthopaed & Trauma Surg, A-1090 Vienna, Austria Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic
[43]
Efficacy of exogenous pyruvate in TremblerJ mouse model of Charcot-Marie-Tooth neuropathy
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Sahenk, Zarife
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Yalvac, Mehmet E.
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Amornvit, Jakkrit
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Arnold, William David
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Chen, Lei
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Shontz, Kimberly M.
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Lewis, Sarah
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BRAIN AND BEHAVIOR,
2018, 8 (10)

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机构:

Yalvac, Mehmet E.
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h-index: 0
机构:
Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA

Amornvit, Jakkrit
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h-index: 0
机构:
Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA
Chulalongkorn Univ, King Chulalongkorn Mem Hosp, Bangkok, Thailand
Chulalongkorn Univ, Dept Med, Fac Med, Bangkok, Thailand Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA

Arnold, William David
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h-index: 0
机构:
Ohio State Univ, Dept Neurol, Columbus, OH 43210 USA
Ohio State Univ, Dept Phys Med & Rehabil, Columbus, OH 43210 USA Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA

Chen, Lei
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h-index: 0
机构:
Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA

Shontz, Kimberly M.
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h-index: 0
机构:
Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA

Lewis, Sarah
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h-index: 0
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Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA Nationwide Childrens Hosp, Res Inst, Ctr Gene Therapy, Columbus, OH 43205 USA
[44]
Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A
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Graf, WD
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机构: UNIV WASHINGTON,DEPT PEDIAT,DIV CONGENITAL DEFECTS,SEATTLE,WA 98195

Chance, PF
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WASHINGTON,DEPT PEDIAT,DIV CONGENITAL DEFECTS,SEATTLE,WA 98195

Lensch, MW
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h-index: 0
机构: UNIV WASHINGTON,DEPT PEDIAT,DIV CONGENITAL DEFECTS,SEATTLE,WA 98195

Eng, LJ
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h-index: 0
机构: UNIV WASHINGTON,DEPT PEDIAT,DIV CONGENITAL DEFECTS,SEATTLE,WA 98195

Lipe, HP
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h-index: 0
机构: UNIV WASHINGTON,DEPT PEDIAT,DIV CONGENITAL DEFECTS,SEATTLE,WA 98195

Thomas, TD
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AUTONOMIC FUNCTION IN HEREDITARY MOTOR AND SENSORY NEUROPATHY (CHARCOT-MARIE-TOOTH DISEASE)
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INGALL, TJ
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UNIV SYDNEY, DEPT MED, SYDNEY, NSW 2006, AUSTRALIA UNIV SYDNEY, DEPT MED, SYDNEY, NSW 2006, AUSTRALIA

MCLEOD, JG
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h-index: 0
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UNIV SYDNEY, DEPT MED, SYDNEY, NSW 2006, AUSTRALIA UNIV SYDNEY, DEPT MED, SYDNEY, NSW 2006, AUSTRALIA
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.
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Lupski, James R.
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Dinh, Huyen
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Jing, Chyn
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Zhang, Feng
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Stankiewicz, Pawel
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Halperin, John J.
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Yang, Chengyong
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Gehman, Curtis
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Lupski, James R.
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h-index: 0
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Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
Texas Childrens Hosp, Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Reid, Jeffrey G.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Gonzaga-Jauregui, Claudia
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h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Deiros, David Rio
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Chen, David C. Y.
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h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Nazareth, Lynne
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h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Bainbridge, Matthew
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Dinh, Huyen
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h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Jing, Chyn
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h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Wheeler, David A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

McGuire, Amy L.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Zhang, Feng
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h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Stankiewicz, Pawel
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h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Halperin, John J.
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h-index: 0
机构:
Atlantic Neurosci Inst, Summit, NJ USA
Mt Sinai Sch Med, New York, NY USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Yang, Chengyong
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h-index: 0
机构:
Life Technol, Carlsbad, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Gehman, Curtis
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h-index: 0
机构:
Life Technol, Carlsbad, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Guo, Danwei
论文数: 0 引用数: 0
h-index: 0
机构:
Life Technol, Carlsbad, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Irikat, Rola K.
论文数: 0 引用数: 0
h-index: 0
机构:
Life Technol, Carlsbad, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Tom, Warren
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h-index: 0
机构:
Life Technol, Carlsbad, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Fantin, Nick J.
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h-index: 0
机构:
Life Technol, Carlsbad, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Muzny, Donna M.
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h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Gibbs, Richard A.
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h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
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Body mass index and progression of pediatric Charcot-Marie-Tooth disease
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JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM,
2020, 25 (04)
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Donlevy, Gabrielle
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h-index: 0
机构:
Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia
Childrens Hosp Westmead, Westmead, NSW, Australia Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia

Garnett, Sarah
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h-index: 0
机构:
Childrens Hosp Westmead, Westmead, NSW, Australia Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia

Cornett, Kayla
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h-index: 0
机构:
Childrens Hosp Westmead, Westmead, NSW, Australia
Univ Sydney, Discipline Child & Adolescent Hlth, Sydney Med Sch, Sydney, NSW, Australia
Univ Sydney, Sch Hlth Sci, Sydney, NSW, Australia Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia

Burns, Joshua
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h-index: 0
机构:
Childrens Hosp Westmead, Westmead, NSW, Australia
Univ Sydney, Sch Hlth Sci, Sydney, NSW, Australia Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia

Menezes, Manoj
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h-index: 0
机构:
Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia
Childrens Hosp Westmead, Westmead, NSW, Australia Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia
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Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy
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Thomas, Florian P.
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h-index: 0
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St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA
St Louis Univ, Inst Mol Virol, Dept Phys Therapy & Athlet Training, St Louis, MO 63104 USA St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

Guergueltcheva, Velina
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h-index: 0
机构:
Med Univ Sofia, Dept Neurol, Sofia, Bulgaria
Univ Hosp Sofiamed, Neurol Clin, Sofia, Bulgaria St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

Gondim, Francisco A. A.
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h-index: 0
机构:
Univ Fed Ceara, Div Neurol, Fortaleza, Ceara, Brazil St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

Tournev, Ivailo
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h-index: 0
机构:
Med Univ Sofia, Dept Neurol, Sofia, Bulgaria
New Bulgarian Univ, Dept Cognit Sci & Psychol, Sofia, Bulgaria St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

Rao, Chitharanjan V.
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h-index: 0
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Univ Med Ctr Princeton, Dept Neurol, Princeton, NJ USA St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

Ishpekova, Boryana
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h-index: 0
机构:
Med Univ Sofia, Dept Neurol, Sofia, Bulgaria St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

Kinsella, Laurence J.
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h-index: 0
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St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

Pan, Yi
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h-index: 0
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St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

Geller, Thomas J.
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h-index: 0
机构:
St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

Litvinenko, Ivan
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h-index: 0
机构:
Med Univ Sofia, Dept Pediat, Sofia, Bulgaria St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

De Jonghe, Peter
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h-index: 0
机构:
Univ Hosp Antwerpen UZA, Div Neurol, Antwerp, Belgium
Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

Scherer, Steven S.
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h-index: 0
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Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA 19104 USA St Louis Univ, Sch Med, Dept Neurol, 1438 South Grand Blvd, St Louis, MO 63104 USA

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Surgical Treatment of Scoliosis in Patients with Charcot-Marie-Tooth Disease
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Farzad Omidi Kashani
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h-index: 0
机构: Orthopedicdepartment,ImamRezaHospital,MashhadUniversityofMedicalSciences

Ibrahim Ghayem Hasankhani
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h-index: 0
机构: Orthopedicdepartment,ImamRezaHospital,MashhadUniversityofMedicalSciences

Mahdi Banaii
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Kuruvilla, A
论文数: 0 引用数: 0
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机构: Rush Presbyterian St Lukes Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA

Costa, JL
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机构: Rush Presbyterian St Lukes Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA

Wright, RB
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机构: Rush Presbyterian St Lukes Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA

Yoder, DM
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机构: Rush Presbyterian St Lukes Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA

Andriacchi, TP
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机构: Rush Presbyterian St Lukes Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA