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Studies

14647 Unclassified

9521 Research

3961 Reviews

3682 Advanced Trials

2315 Case Reports

809 Other Trials

644 Early Trials

165 Meta-Analysis

Guidelines

45 Cochrane

41 Guidelines

30 Consensuses

Congresses

3056 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

Sequencing ancient calcified dental plaque shows changes in oral microbiota with dietary shifts of the Neolithic and Industrial revolutions.

Adler Christina J, Dobney Keith, Weyrich Laura S, Kaidonis John, Walker Alan W ...

Nature genetics Vol 45(4)

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Date 01 Apr 2013

Institutional score
25.56
Impact
2459.31

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Date 01 Apr 2013

Institutional score
25.56
Impact
2459.31
4

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
5

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
6

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
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

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
9

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
10

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

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