Laia Pedrola

1. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
   2001/12/17 by Ana Cuesta, Laia Pedrola, Teresa Sevilla +11 · 297 citations
   Biochemistry, Genetics and Molecular Biology · Neuroscience · #Allele #Biology #Gene #Genetics #Hereditary Neurological Disorders #Locus (genetics) #Mutant #Mutation #Neurological diseases and metabolism #Nuclear Structure and Function #Phenotype #Tooth disease
2. A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot–Marie–Tooth type 4 disease
   2005/12/16 by Dagmara Kabzińska, Andrzej Kochański, H Drac +8 · 9 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Biology #Caveolin-1 and cellular processes #Coding region #Degenerative disease #Disease #Ganglioside #Gene #Gene mutation #Genetics #Hereditary Neurological Disorders #Medicine #Mutation #Neurogenetic and Muscular Disorders Research #Pathology #Tooth disease
3. GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
   2005/03/16 by Laia Pedrola, Antonio Espert, Xingyao Wu +3 · 182 citations
   Neuroscience · #Hereditary Neurological Disorders #Genetic Neurodegenerative Diseases #Neurological diseases and metabolism #Biology #Mitochondrion #Degenerative disease #Disease #Genetics #Type (biology) #Cell biology #Central nervous system disease #Neuroscience #Internal medicine
4. Mutations in GDAP1
   2002/12/24 by Eva Nelis, Sevim Erdem‐Özdamar, Peter Van den Bergh +14 · 158 citations
   Neuroscience · Medicine · Biochemistry, Genetics and Molecular Biology · #Hereditary Neurological Disorders #Peripheral Neuropathies and Disorders #Caveolin-1 and cellular processes #Missense mutation #Exon #Nerve biopsy #Nonsense mutation #Mutation #Locus (genetics) #Phenotype #Pathology #Genetics #Biology #Medicine #Molecular biology #Gene #Peripheral neuropathy #Endocrinology