Palau F - Search Results

1

Molecular analysis of the Friedreich's ataxia locus.

Chamberlain S, Koenig M, Richter A, Palau F, Pandolfo M. Chamberlain S, et al. Among authors: palau f. Adv Neurol. 1993;61:193-204. Adv Neurol. 1993. PMID: 8421969 Review. No abstract available.

2

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.

Palau F, De Michele G, Vilchez JJ, Pandolfo M, Monrós E, Cocozza S, Smeyers P, Lopez-Arlandis J, Campanella G, Di Donato S, et al. Palau F, et al. Ann Neurol. 1995 Mar;37(3):359-62. doi: 10.1002/ana.410370312. Ann Neurol. 1995. PMID: 7695235

3

Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.

Monrós E, Cañizares J, Moltó MD, Rodius F, Montermini L, Cossée M, Martínez F, Prieto F, de Frutos R, Koenig M, Pandolfo M, Bertranpetit J, Palau F. Monrós E, et al. Among authors: palau f. Eur J Hum Genet. 1996;4(4):191-8. doi: 10.1159/000472198. Eur J Hum Genet. 1996. PMID: 8875184

4

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Campuzano V, et al. Among authors: palau f. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916

5

Intronic GAA triplet repeat expansion in Friedreich's ataxia presenting with pure sensory ataxia.

Berciano J, Combarros O, De Castro M, Palau F. Berciano J, et al. Among authors: palau f. J Neurol. 1997 Jun;244(6):390-1. doi: 10.1007/s004150050109. J Neurol. 1997. PMID: 9249627 No abstract available.

6

Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).

Palau F. Palau F. Int J Mol Med. 2001 Jun;7(6):581-9. doi: 10.3892/ijmm.7.6.581. Int J Mol Med. 2001. PMID: 11351269 Review.

7

Classical Friedreich's ataxia and its genotype.

Martin J, Martin L, Löfgren A, D'Hooghe M, Storm K, Balemans W, Palau F, Van Broeckhoven C. Martin J, et al. Among authors: palau f. Eur Neurol. 1999;42(2):109-15. doi: 10.1159/000069420. Eur Neurol. 1999. PMID: 10473983

8

[Genetic analysis of Friedreich's ataxia using polymorphic DNA markers].

Palau F, Vílchez JJ, Beneyto M, López Arlandis JM, Castellano FM, Badía L, Prieto F. Palau F, et al. Med Clin (Barc). 1990 May 5;94(17):651-4. Med Clin (Barc). 1990. PMID: 1974690 Spanish.

9

Prenatal diagnosis of Friedreich ataxia: improved accuracy by using new genetic flanking markers.

Monros E, Smeyers P, Ramos MA, Prieto F, Palau F. Monros E, et al. Among authors: palau f. Prenat Diagn. 1995 Jun;15(6):551-4. doi: 10.1002/pd.1970150608. Prenat Diagn. 1995. PMID: 7659688

10

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. Nelis E, et al. Among authors: palau f. Neurology. 2002 Dec 24;59(12):1865-72. doi: 10.1212/01.wnl.0000036272.36047.54. Neurology. 2002. PMID: 12499475

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