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Items: 1 to 20 of 130

1.

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S.

Am J Hum Genet. 2011 Aug 12;89(2):308-12. doi: 10.1016/j.ajhg.2011.07.002.

2.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T.

J Med Genet. 2012 Mar;49(3):179-83. doi: 10.1136/jmedgenet-2011-100542.

PMID:
22368300
3.

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C.

Brain. 2016 Jan;139(Pt 1):62-72. doi: 10.1093/brain/awv311.

PMID:
26497905
4.

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

Fiorillo C, Moro F, Yi J, Weil S, Brisca G, Astrea G, Severino M, Romano A, Battini R, Rossi A, Minetti C, Bruno C, Santorelli FM, Vallee R.

Hum Mutat. 2014 Mar;35(3):298-302. doi: 10.1002/humu.22491.

5.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

6.

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

Tsurusaki Y, Saitoh S, Tomizawa K, Sudo A, Asahina N, Shiraishi H, Ito J, Tanaka H, Doi H, Saitsu H, Miyake N, Matsumoto N.

Neurogenetics. 2012 Nov;13(4):327-32. doi: 10.1007/s10048-012-0337-6.

PMID:
22847149
7.

A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.

Tsai PC, Huang YH, Guo YC, Wu HT, Lin KP, Tsai YS, Liao YC, Liu YT, Liu TT, Kao LS, Yet SF, Fann MJ, Soong BW, Lee YC.

Neurology. 2014 Sep 2;83(10):903-12. doi: 10.1212/WNL.0000000000000758.

PMID:
25098539
8.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M.

J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2.

9.

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

Punetha J, Monges S, Franchi ME, Hoffman EP, Cirak S, Tesi-Rocha C.

Pediatr Neurol. 2015 Feb;52(2):239-44. doi: 10.1016/j.pediatrneurol.2014.09.003.

10.

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.

Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH.

Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05.

11.

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.

Engeholm M, Sekler J, Schöndorf DC, Arora V, Schittenhelm J, Biskup S, Schell C, Gasser T.

BMC Neurol. 2014 Jun 3;14:118. doi: 10.1186/1471-2377-14-118.

12.

Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.

Peeters K, Bervoets S, Chamova T, Litvinenko I, De Vriendt E, Bichev S, Kancheva D, Mitev V, Kennerson M, Timmerman V, De Jonghe P, Tournev I, MacMillan J, Jordanova A.

Hum Mutat. 2015 Mar;36(3):287-91. doi: 10.1002/humu.22744.

PMID:
25512093
13.

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.

Sivera R, Espinós C, Vílchez JJ, Mas F, Martínez-Rubio D, Chumillas MJ, Mayordomo F, Muelas N, Bataller L, Palau F, Sevilla T.

J Peripher Nerv Syst. 2010 Dec;15(4):334-44. doi: 10.1111/j.1529-8027.2010.00286.x.

PMID:
21199105
14.

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

Latour P, Thauvin-Robinet C, Baudelet-Méry C, Soichot P, Cusin V, Faivre L, Locatelli MC, Mayençon M, Sarcey A, Broussolle E, Camu W, David A, Rousson R.

Am J Hum Genet. 2010 Jan;86(1):77-82. doi: 10.1016/j.ajhg.2009.12.005.

15.
16.

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age.

Eschbach J, Sinniger J, Bouitbir J, Fergani A, Schlagowski AI, Zoll J, Geny B, René F, Larmet Y, Marion V, Baloh RH, Harms MB, Shy ME, Messadeq N, Weydt P, Loeffler JP, Ludolph AC, Dupuis L.

Neurobiol Dis. 2013 Oct;58:220-30. doi: 10.1016/j.nbd.2013.05.015.

17.

A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family.

Sun A, Liu X, Zheng M, Sun Q, Huang Y, Fan D.

Neurol Res. 2015 Sep;37(9):782-7. doi: 10.1179/1743132815Y.0000000055.

PMID:
26000875
18.

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE; Care4Rare Canada Consortium., Dyment DA, McMillan HJ.

Neuromuscul Disord. 2015 Oct;25(10):794-9. doi: 10.1016/j.nmd.2015.07.017.

PMID:
26298607
19.

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.

Hong YB, Kang J, Kim JH, Lee J, Kwak G, Hyun YS, Nam SH, Hong HD, Choi YR, Jung SC, Koo H, Lee JE, Choi BO, Chung KW.

Hum Mutat. 2016 May;37(5):473-80. doi: 10.1002/humu.22959.

PMID:
26786738
20.

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.

Brain. 2007 Apr;130(Pt 4):1062-75.

PMID:
17347251

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