共 16 条
[1]
BROOK, 1992, CELL, V69, P385
[2]
MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER
[J].
BROOK, JD
;
MCCURRACH, ME
;
HARLEY, HG
;
BUCKLER, AJ
;
CHURCH, D
;
ABURATANI, H
;
HUNTER, K
;
STANTON, VP
;
THIRION, JP
;
HUDSON, T
;
SOHN, R
;
ZEMELMAN, B
;
SNELL, RG
;
RUNDLE, SA
;
CROW, S
;
DAVIES, J
;
SHELBOURNE, P
;
BUXTON, J
;
JONES, C
;
JUVONEN, V
;
JOHNSON, K
;
HARPER, PS
;
SHAW, DJ
;
HOUSMAN, DE
.
CELL,
1992, 68 (04)
:799-808

BROOK, JD
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

MCCURRACH, ME
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

HARLEY, HG
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

BUCKLER, AJ
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

CHURCH, D
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

ABURATANI, H
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

HUNTER, K
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

STANTON, VP
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

THIRION, JP
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

HUDSON, T
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

SOHN, R
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

ZEMELMAN, B
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

SNELL, RG
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

RUNDLE, SA
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

CROW, S
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

DAVIES, J
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

SHELBOURNE, P
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

BUXTON, J
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

JONES, C
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

JUVONEN, V
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

JOHNSON, K
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

HARPER, PS
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

SHAW, DJ
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

HOUSMAN, DE
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES
[3]
Huntington and DRPLA proteins selectively interact with the enzyme GAPDH
[J].
Burke, JR
;
Enghild, JJ
;
Martin, ME
;
Jou, YS
;
Myers, RM
;
Roses, AD
;
Vance, JM
;
Strittmatter, WJ
.
NATURE MEDICINE,
1996, 2 (03)
:347-350

Burke, JR
论文数: 0 引用数: 0
h-index: 0
机构: DUKE UNIV, MED CTR, DEPT PATHOL, DURHAM, NC 27710 USA

Enghild, JJ
论文数: 0 引用数: 0
h-index: 0
机构: DUKE UNIV, MED CTR, DEPT PATHOL, DURHAM, NC 27710 USA

Martin, ME
论文数: 0 引用数: 0
h-index: 0
机构: DUKE UNIV, MED CTR, DEPT PATHOL, DURHAM, NC 27710 USA

Jou, YS
论文数: 0 引用数: 0
h-index: 0
机构: DUKE UNIV, MED CTR, DEPT PATHOL, DURHAM, NC 27710 USA

Myers, RM
论文数: 0 引用数: 0
h-index: 0
机构: DUKE UNIV, MED CTR, DEPT PATHOL, DURHAM, NC 27710 USA

Roses, AD
论文数: 0 引用数: 0
h-index: 0
机构: DUKE UNIV, MED CTR, DEPT PATHOL, DURHAM, NC 27710 USA

Vance, JM
论文数: 0 引用数: 0
h-index: 0
机构: DUKE UNIV, MED CTR, DEPT PATHOL, DURHAM, NC 27710 USA

Strittmatter, WJ
论文数: 0 引用数: 0
h-index: 0
机构: DUKE UNIV, MED CTR, DEPT PATHOL, DURHAM, NC 27710 USA
[4]
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
[J].
Campuzano, V
;
Montermini, L
;
Molto, MD
;
Pianese, L
;
Cossee, M
;
Cavalcanti, F
;
Monros, E
;
Rodius, F
;
Duclos, F
;
Monticelli, A
;
Zara, F
;
Canizares, J
;
Koutnikova, H
;
Bidichandani, SI
;
Gellera, C
;
Brice, A
;
Trouillas, P
;
DeMichele, G
;
Filla, A
;
DeFrutos, R
;
Palau, F
;
Patel, PI
;
DiDonato, S
;
Mandel, JL
;
Cocozza, S
;
Koenig, M
;
Pandolfo, M
.
SCIENCE,
1996, 271 (5254)
:1423-1427

Campuzano, V
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Montermini, L
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Molto, MD
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Pianese, L
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Cossee, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Cavalcanti, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Monros, E
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Rodius, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Duclos, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Monticelli, A
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Zara, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Canizares, J
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Koutnikova, H
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Bidichandani, SI
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Gellera, C
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Brice, A
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Trouillas, P
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

DeMichele, G
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Filla, A
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

DeFrutos, R
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Palau, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Patel, PI
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

DiDonato, S
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Mandel, JL
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Cocozza, S
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Koenig, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Pandolfo, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE
[5]
Clinical and genetic abnormalities in patients with Friedreich's ataxia
[J].
Durr, A
;
Cossee, M
;
Agid, Y
;
Campuzano, V
;
Mignard, C
;
Penet, C
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Mandel, JL
;
Brice, A
;
Koenig, M
.
NEW ENGLAND JOURNAL OF MEDICINE,
1996, 335 (16)
:1169-1175

Durr, A
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE

Cossee, M
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE

Agid, Y
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE

Campuzano, V
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE

Mignard, C
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE

Penet, C
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE

Mandel, JL
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE

Brice, A
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE

Koenig, M
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE
[6]
ADULT-ONSET SPINOCEREBELLAR DYSFUNCTION CAUSED BY A MUTATION IN THE GENE FOR THE ALPHA-TOCOPHEROL-TRANSFER PROTEIN
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GOTODA, T
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ARITA, M
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ARAI, H
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INOUE, K
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YOKOTA, T
;
FUKUO, Y
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YAZAKI, Y
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YAMADA, N
.
NEW ENGLAND JOURNAL OF MEDICINE,
1995, 333 (20)
:1313-1318

GOTODA, T
论文数: 0 引用数: 0
h-index: 0
机构: UNIV TOKYO, FAC MED, DEPT INTERNAL MED 3, TOKYO 113, JAPAN

ARITA, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV TOKYO, FAC MED, DEPT INTERNAL MED 3, TOKYO 113, JAPAN

ARAI, H
论文数: 0 引用数: 0
h-index: 0
机构: UNIV TOKYO, FAC MED, DEPT INTERNAL MED 3, TOKYO 113, JAPAN

INOUE, K
论文数: 0 引用数: 0
h-index: 0
机构: UNIV TOKYO, FAC MED, DEPT INTERNAL MED 3, TOKYO 113, JAPAN

YOKOTA, T
论文数: 0 引用数: 0
h-index: 0
机构: UNIV TOKYO, FAC MED, DEPT INTERNAL MED 3, TOKYO 113, JAPAN

FUKUO, Y
论文数: 0 引用数: 0
h-index: 0
机构: UNIV TOKYO, FAC MED, DEPT INTERNAL MED 3, TOKYO 113, JAPAN

YAZAKI, Y
论文数: 0 引用数: 0
h-index: 0
机构: UNIV TOKYO, FAC MED, DEPT INTERNAL MED 3, TOKYO 113, JAPAN

YAMADA, N
论文数: 0 引用数: 0
h-index: 0
机构: UNIV TOKYO, FAC MED, DEPT INTERNAL MED 3, TOKYO 113, JAPAN
[7]
CAG EXPANSIONS IN A NOVEL GENE FOR MACHADO-JOSEPH DISEASE AT CHROMOSOME 14Q32.1
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KAWAGUCHI, Y
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OKAMOTO, T
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TANIWAKI, M
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AIZAWA, M
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INOUE, M
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KAWAKAMI, H
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NAKAMURA, S
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NISHIMURA, M
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AKIGUCHI, I
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KIMURA, J
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NARUMIYA, S
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KAKIZUKA, A
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NATURE GENETICS,
1994, 8 (03)
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KAWAGUCHI, Y
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

OKAMOTO, T
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

TANIWAKI, M
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

AIZAWA, M
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

论文数: 引用数:
h-index:
机构:

KATAYAMA, S
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

KAWAKAMI, H
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

论文数: 引用数:
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机构:

NISHIMURA, M
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

AKIGUCHI, I
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

KIMURA, J
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

NARUMIYA, S
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

KAKIZUKA, A
论文数: 0 引用数: 0
h-index: 0
机构: KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN
[8]
UNSTABLE EXPANSION OF CAG REPEAT IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA)
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KOIDE, R
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IKEUCHI, T
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ONODERA, O
;
TANAKA, H
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IGARASHI, S
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ENDO, K
;
TAKAHASHI, H
;
KONDO, R
;
ISHIKAWA, A
;
HAYASHI, T
;
SAITO, M
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TOMODA, A
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MIIKE, T
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NAITO, H
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IKUTA, F
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TSUJI, S
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NATURE GENETICS,
1994, 6 (01)
:9-13

KOIDE, R
论文数: 0 引用数: 0
h-index: 0
机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

IKEUCHI, T
论文数: 0 引用数: 0
h-index: 0
机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

ONODERA, O
论文数: 0 引用数: 0
h-index: 0
机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

论文数: 引用数:
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IGARASHI, S
论文数: 0 引用数: 0
h-index: 0
机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

ENDO, K
论文数: 0 引用数: 0
h-index: 0
机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

TAKAHASHI, H
论文数: 0 引用数: 0
h-index: 0
机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

KONDO, R
论文数: 0 引用数: 0
h-index: 0
机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

ISHIKAWA, A
论文数: 0 引用数: 0
h-index: 0
机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

HAYASHI, T
论文数: 0 引用数: 0
h-index: 0
机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

SAITO, M
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h-index: 0
机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

TOMODA, A
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MIIKE, T
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机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

NAITO, H
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IKUTA, F
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TSUJI, S
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机构: NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN
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LASPADA, AR
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WILSON, EM
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LUBAHN, DB
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