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Alejandro Leal

Research Profile

Geographic Areas

Costa Rica

Disorders

Charcot-Marie-Tooth Disease

Concepts & Ideas

Anatomy

Chemicals & Drugs

Procedures

DNA Mutational Analysis

Physiology

Phenomena

Polymorphism, Single-Stranded Conformational

Co-author Network

Publications

TOP 3
Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R Lupski; Arif B Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Michael Sereda; Ruth Martha Stassart; Klaus-Armin Nave; André Reis; Gerd Meyer zu Horste; Bernd Rautenstrauss
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Corinna Berghoff; Martin Berghoff; Alejandro Leal; Bernal Morera; Carlos Contreras; Ramiro Barrantes; Bernd Rautenstrauss; Gerardo Del Valle; Dieter Heuss
Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.
Alejandro Leal
Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution.

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All Publications

2009: Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R Lupski; Arif B Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Michael Sereda; Ruth Martha Stassart; Klaus-Armin Nave; André Reis; Gerd Meyer zu Horste; Bernd Rautenstrauss
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Neurogenetics 2009;10(4):275-87.
2009: Corinna Berghoff; Martin Berghoff; Alejandro Leal; Bernal Morera; Carlos Contreras; Ramiro Barrantes; Bernd Rautenstrauss; Gerardo Del Valle; Dieter Heuss
Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.
Neurological research 2009;31(3):283-8.
2004: Alejandro Leal
Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution.
Revista de biología tropical 2004;52(3):475-83.
2004: Corinna Berghoff; Martin Berghoff; Alejandro Leal; Bernal Morera; Ramiro Barrantes; André Reis; Bernhard Neundörfer; Bernd Rautenstrauss; Gerardo Del Valle; Dieter Heuss
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.
Neuromuscular disorders : NMD 2004;14(5):301-6.
2003: Alejandro Leal; Corinna Berghoff; Martin Berghoff; Gerardo Del Valle; Carlos Contreras; Olga Montoya; Erick Hernández; Ramiro Barrantes; Ursula Schlötzer-Schrehardt; Bernhard Neundörfer; André Reis; Bernd Rautenstrauss; Dieter Heuss
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.
Neurogenetics 2003;4(4):191-7.
2003: Alejandro Leal; Sabine Endele; Corinna Stengel; Kathrin Huehne; Joachim Loetterle; Ramiro Barrantes; Andreas Winterpacht; Bernd Rautenstrauss
A novel myosin heavy chain gene in human chromosome 19q13.3.
Gene 2003;312():165-71.
2001: Alejandro Leal; Bernal Morera; Dieter Heuss; C Kayser; Martin Berghoff; R Villegas; E Hernández; M Méndez; H C Hennies; Bernhard Neundörfer; Ramiro Barrantes; André Reis; Bernd Rautenstrauss
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
American journal of human genetics 2001;68(1):269-74.