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Studies

7874 Unclassified

3797 Research

2345 Reviews

2100 Case Reports

487 Other Trials

413 Advanced Trials

201 Early Trials

53 Meta-Analysis

Guidelines

37 Guidelines

18 Cochrane

15 Consensuses

Congresses

1561 Abstracts

1

Research

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Lupski J R, de Oca-Luna R M, Slaugenhaupt S, Pentao L, Guzzetta V ...

Cell Vol 66(2)

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Date 26 Jul 1991

Institutional score
39.78
Impact
3197.10

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Date 26 Jul 1991

Institutional score
39.78
Impact
3197.10
2

Research

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.

Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T ...

Cell Vol 105(5)

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Date 01 Jun 2001

Institutional score
128.24
Impact
3197.10

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Date 01 Jun 2001

Institutional score
128.24
Impact
3197.10
3

Research

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Landouré Guida, Zdebik Anselm A, Martinez Tara L, Burnett Barrington G, Stanescu Horia C ...

Nature genetics Vol 42(2)

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Date 01 Feb 2010

Institutional score
323.39
Impact
2459.31

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Date 01 Feb 2010

Institutional score
323.39
Impact
2459.31
4

Research

Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

Roa B B, Garcia C A, Pentao L, Killian J M, Trask B J ...

Nature genetics Vol 5(2)

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Date 01 Oct 1993

Institutional score
39.78
Impact
2459.31

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Date 01 Oct 1993

Institutional score
39.78
Impact
2459.31
5

Research

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.

Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen B W, Chen K L ...

Nature genetics Vol 1(3)

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Date 01 Jun 1992

Institutional score
16.98
Impact
2459.31

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Date 01 Jun 1992

Institutional score
16.98
Impact
2459.31
6

Research

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.

Valentijn L J, Bolhuis P A, Zorn I, Hoogendijk J E, van den Bosch N ...

Nature genetics Vol 1(3)

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Date 01 Jun 1992

Institutional score
0.00
Impact
2459.31

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Date 01 Jun 1992

Institutional score
0.00
Impact
2459.31
7

Research

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

Patel P I, Roa B B, Welcher A A, Schoener-Scott R, Trask B J ...

Nature genetics Vol 1(3)

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Date 01 Jun 1992

Institutional score
39.78
Impact
2459.31

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Date 01 Jun 1992

Institutional score
39.78
Impact
2459.31
8

Research

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

Valentijn L J, Baas F, Wolterman R A, Hoogendijk J E, van den Bosch N H ...

Nature genetics Vol 2(4)

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Date 01 Dec 1992

Institutional score
37.95
Impact
2459.31

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Date 01 Dec 1992

Institutional score
37.95
Impact
2459.31
9

Research

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.

Kulkens T, Bolhuis P A, Wolterman R A, Kemp S, te Nijenhuis S ...

Nature genetics Vol 5(1)

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Date 01 Sep 1993

Institutional score
37.95
Impact
2459.31

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Date 01 Sep 1993

Institutional score
37.95
Impact
2459.31
10

Research

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Evgrafov Oleg V, Mersiyanova Irena, Irobi Joy, Van Den Bosch Ludo, Dierick Ines ...

Nature genetics Vol 36(6)

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Date 01 Jun 2004

Institutional score
0.00
Impact
2459.31

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Date 01 Jun 2004

Institutional score
0.00
Impact
2459.31

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