Participación personal en investigación a nivel internacional

1. Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.
 Berghoff C, Berghoff M, Leal A, Morera B, Contreras C, Barrantes R, Rautenstrauss B, Del Valle G, Heuss D.
 Neurol Res. 2009 Apr;31(3):283-8. Epub 2008 Sep 29.
 PMID: 18826755 [PubMed - indexed for MEDLINE]

2. Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.
 Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T.
 Rev Biol Trop. 2008 Mar;56(1):1-11.
 PMID: 18624224 [PubMed - indexed for MEDLINE]


3. Gene symbol: CLCN1. Disease: Myotonia congenita.
 Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T.
 Hum Genet. 2008 Feb;123(1):104-5. No abstract available. 
 PMID: 18386321 [PubMed - indexed for MEDLINE]


4. Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.
 Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T.
 Hum Genet. 2007 Nov;122(3-4):413. No abstract available. 
 PMID: 17717708 [PubMed - indexed for MEDLINE]


5. Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.
 Berghoff C, Berghoff M, Leal A, Morera B, Barrantes R, Reis A, Neundörfer B, Rautenstrauss B, Del Valle G, Heuss D.
 Neuromuscul Disord. 2004 May;14(5):301-6.
 PMID: 15099588 [PubMed - indexed for MEDLINE]


6. Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
 Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schlötzer-Schrehardt U, Neundörfer B, Reis A, Rautenstrauss B, Heuss D.
 Neurogenetics. 2003 Aug;4(4):191-7. Epub 2003 Jul 5.
 PMID: 12845552 [PubMed - indexed for MEDLINE]


7. [Intergenerational study of the mutation that causes Myotonic Dystrophy Type 1 in Costa Rica].
 Morales Montero F, Cuenca Berger P, Brian Gago R, Sittenfeld M, del Valle G.
 Rev Neurol. 2003 Jan 1-15;36(1):20-5. Spanish. 
 PMID: 12577208 [PubMed - indexed for MEDLINE] Free Article 

 8. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
 Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B.
 Am J Hum Genet. 2001 Jan;68(1):269-74. Epub 2000 Dec 7.
 PMID: 11112660 [PubMed - indexed for MEDLINE] Free PMC Article 
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9. [Dural arteriovenous malformations].
 Chaverri D, Del Valle G, Zaragoza E, Fernández de Molina A, Gobernado JM, Gimeno A.
 Rev Clin Esp. 1984 Jan 31;172(2):87-9. Spanish. No abstract available. 
 PMID: 6718780 [PubMed - indexed for MEDLINE