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Items: 1 to 20 of 250

1.

Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.

Rougeot C, Chabrier S, Camdessanche JP, Prieur F, d'Anjou MC, Latour P.

Neuropediatrics. 2008 Jun;39(3):184-7. doi: 10.1055/s-0028-1085467. Epub 2008 Nov 7.

PMID:
18991200
2.

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. Epub 2007 Mar 8.

PMID:
17347251
3.

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM.

Brain. 2003 Mar;126(Pt 3):642-9.

PMID:
12566285
4.

Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).

Sahin-Calapoglu N, Tan M, Soyoz M, Calapoglu M, Ozcelik N.

Neuromolecular Med. 2009;11(2):106-13. doi: 10.1007/s12017-009-8062-5. Epub 2009 Apr 19.

PMID:
19381883
5.

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vílchez JJ.

Brain. 2003 Sep;126(Pt 9):2023-33. Epub 2003 Jun 23.

PMID:
12821518
6.

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V.

Neurology. 2002 Dec 24;59(12):1865-72.

PMID:
12499475
7.

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P.

Neuromuscul Disord. 2003 Nov;13(9):720-8.

PMID:
14561495
8.

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.

Kabzińska D, Niemann A, Drac H, Huber N, Potulska-Chromik A, Hausmanowa-Petrusewicz I, Suter U, Kochański A.

Neurogenetics. 2011 May;12(2):145-53. doi: 10.1007/s10048-011-0276-7. Epub 2011 Mar 2.

PMID:
21365284
9.

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.

Kabzińska D, Kochański A, Drac H, Rowińska-Marcińska K, Ryniewicz B, Pedrola L, Palau F, Hausmanowa-Petrusewicz I.

J Neurol Sci. 2006 Feb 15;241(1-2):7-11. Epub 2005 Dec 15.

PMID:
16343542
10.

GDAP1 mutations in Czech families with early-onset CMT.

Baránková L, Vyhnálková E, Züchner S, Mazanec R, Sakmaryová I, Vondrácek P, Merlini L, Bojar M, Nelis E, De Jonghe P, Seeman P.

Neuromuscul Disord. 2007 Jun;17(6):482-9. Epub 2007 Apr 11.

PMID:
17433678
11.

Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.

Chung KW, Hyun YS, Lee HJ, Jung HK, Koo H, Yoo JH, Kim SB, Park CI, Kim HN, Choi BO.

J Peripher Nerv Syst. 2011 Jun;16(2):143-6. doi: 10.1111/j.1529-8027.2011.00329.x.

PMID:
21692914
12.

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
13.

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.

Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O.

Neuromuscul Disord. 2003 May;13(4):341-6.

PMID:
12868504
14.

A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.

Bouhouche A, Birouk N, Benomar A, Ouazzani R, Chkili T, Yahyaoui M.

Can J Neurol Sci. 2007 Nov;34(4):421-6.

PMID:
18062449
15.

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinós C, Palau F.

Brain. 2008 Nov;131(Pt 11):3051-61. doi: 10.1093/brain/awn228. Epub 2008 Sep 23.

PMID:
18812441
16.

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.

Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E.

Arch Neurol. 2003 Apr;60(4):598-604.

PMID:
12707075
17.

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.

Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM.

Nat Genet. 2002 Jan;30(1):21-2. Epub 2001 Dec 17.

PMID:
11743579
18.

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.

Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H.

Clin Genet. 2008 Sep;74(3):274-8. doi: 10.1111/j.1399-0004.2008.01018.x. Epub 2008 May 19.

PMID:
18492089
19.

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.

Kabzińska D, Kochański A, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I.

Neuropediatrics. 2005 Jun;36(3):206-9.

PMID:
15944907
20.

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT.

J Med Genet. 2010 Oct;47(10):712-6. doi: 10.1136/jmg.2010.077909. Epub 2010 Aug 3.

PMID:
20685671

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