共 7 条
[1]
Chorein detection for the diagnosis of chorea-acanthocytosis
[J].
Dobson-Stone, C
;
Velayos-Baeza, A
;
Filippone, LA
;
Westbury, S
;
Storch, A
;
Erdmann, T
;
Wroe, SJ
;
Leenders, KL
;
Lang, AE
;
Dotti, MT
;
Federico, A
;
Mohiddin, SA
;
Fananapazir, L
;
Daniels, G
;
Danek, A
;
Monaco, AP
.
ANNALS OF NEUROLOGY,
2004, 56 (02)
:299-302

Dobson-Stone, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Velayos-Baeza, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Filippone, LA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Westbury, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Storch, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Erdmann, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Wroe, SJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Leenders, KL
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Lang, AE
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Dotti, MT
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Federico, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Mohiddin, SA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Fananapazir, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Daniels, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Danek, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Monaco, AP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
[2]
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
[J].
Dobson-Stone, C
;
Danek, A
;
Rampoldi, L
;
Hardie, RJ
;
Chalmers, RM
;
Wood, NW
;
Bohlega, S
;
Dotti, MT
;
Federico, A
;
Shizuka, M
;
Tanaka, M
;
Watanabe, M
;
Ikeda, Y
;
Brin, M
;
Goldfarb, LG
;
Karp, BI
;
Mohiddin, S
;
Fananapazir, L
;
Storch, A
;
Fryer, AE
;
Maddison, P
;
Sibon, I
;
Trevisol-Bittencourt, PC
;
Singer, C
;
Caballero, IR
;
Aasly, JO
;
Schmierer, K
;
Dengler, R
;
Hiersemenzel, LP
;
Zeviani, M
;
Meiner, V
;
Lossos, A
;
Johnson, S
;
Mercado, FC
;
Sorrentino, G
;
Dupré, N
;
Rouleau, GA
;
Volkmann, J
;
Arpa, J
;
Lees, A
;
Geraud, G
;
Chouinard, S
;
Németh, A
;
Monaco, AP
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2002, 10 (11)
:773-+

Dobson-Stone, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Danek, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Rampoldi, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Hardie, RJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Chalmers, RM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Wood, NW
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Bohlega, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Dotti, MT
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Federico, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Shizuka, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Tanaka, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Watanabe, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Ikeda, Y
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Brin, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Goldfarb, LG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Karp, BI
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Mohiddin, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Fananapazir, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Storch, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Fryer, AE
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Maddison, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Sibon, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Trevisol-Bittencourt, PC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Singer, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Caballero, IR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Aasly, JO
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Schmierer, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Dengler, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Hiersemenzel, LP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Zeviani, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Meiner, V
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Lossos, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Johnson, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Mercado, FC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Sorrentino, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Dupré, N
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Rouleau, GA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Volkmann, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Arpa, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Lees, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Geraud, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Chouinard, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Németh, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Monaco, AP
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
[3]
KAGEL M C, 1992, Dysphagia, V7, P106, DOI 10.1007/BF02493441
[4]
Early clinical heterogeneity in choreoacanthocytosis
[J].
Lossos, A
;
Dobson-Stone, C
;
Monaco, AP
;
Soffer, D
;
Rahamim, E
;
Newman, JP
;
Mohiddin, S
;
Fananapazir, L
;
Lerer, I
;
Linetsky, E
;
Reches, A
;
Argov, Z
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Abramsky, O
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Gadoth, N
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Sadeh, M
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Gomori, JM
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Boher, M
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Meiner, V
.
ARCHIVES OF NEUROLOGY,
2005, 62 (04)
:611-614

Lossos, A
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Dobson-Stone, C
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Monaco, AP
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Soffer, D
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Rahamim, E
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Newman, JP
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Mohiddin, S
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Fananapazir, L
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Lerer, I
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Linetsky, E
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Reches, A
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Argov, Z
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Abramsky, O
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Gadoth, N
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Sadeh, M
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Gomori, JM
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Boher, M
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

Meiner, V
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Hebrew Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel
[5]
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
[J].
Rampoldi, L
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Dobson-Stone, C
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Rubio, JP
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Danek, A
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Chalmers, RM
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Wood, NW
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Verellen, C
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Ferrer, X
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Malandrini, A
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Fabrizi, GM
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Brown, R
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Vance, J
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Pericak-Vance, M
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Németh, AH
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Monaco, AP
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NATURE GENETICS,
2001, 28 (02)
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Rampoldi, L
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Dobson-Stone, C
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Rubio, JP
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Danek, A
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Chalmers, RM
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Wood, NW
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Verellen, C
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Ferrer, X
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Malandrini, A
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Fabrizi, GM
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Brown, R
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Vance, J
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Pericak-Vance, M
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Rudolf, G
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Carrè, S
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Alonso, E
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Manfredi, M
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Németh, AH
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England

Monaco, AP
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h-index: 0
机构: Wellcome Trust Ctr Human Genet, Oxford, England
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Schneider, S. A.
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Schneider, S. A.
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机构: UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England

Aggarwal, A.
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h-index: 0
机构: UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England

Bhatt, M.
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h-index: 0
机构: UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England

Dupont, E.
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h-index: 0
机构: UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England

Tisch, S.
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h-index: 0
机构: UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England

Limousin, P.
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h-index: 0
机构: UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England

Lee, P.
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h-index: 0
机构: UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England

Quinn, N.
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h-index: 0
机构: UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England

Bhatia, K. P.
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Neurologic phenotypes associated with acanthocytosis
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Walker, R. H.
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NEUROLOGY,
2007, 68 (02)
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Walker, R. H.
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机构: James J Peters Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA

Jung, H. H.
论文数: 0 引用数: 0
h-index: 0
机构: James J Peters Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA

Dobson-Stone, C.
论文数: 0 引用数: 0
h-index: 0
机构: James J Peters Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA

Rampoldi, L.
论文数: 0 引用数: 0
h-index: 0
机构: James J Peters Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA

Sano, A.
论文数: 0 引用数: 0
h-index: 0
机构: James J Peters Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA

Tison, F.
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h-index: 0
机构: James J Peters Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA

Danek, A.
论文数: 0 引用数: 0
h-index: 0
机构: James J Peters Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA