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All Pubmed data courtesy of the U.S. National Library of Medicine. Library last updated 19 December 2020.
Clinical trials databases last updated 1 December 2020 (clinicaltrials.gov) and 1 December 2020 (ictrp)
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1625 Abstracts
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
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
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
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
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
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
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
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
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
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
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