Allie Moosa

Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor

Sek Mardy, Yuichi Miura, Fumio Endo et al. · The American Journal of Human Genetics · 1999 · 157 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +16

The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria): Case Reports of 23 New Patients

K. Michael Gibson, Ernst Christensen, Cornelis Jakobs et al. · PEDIATRICS · 1997 · 143 citations · Full text

Medicine, Neurology, Pediatrics +13

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of theTRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutantTRKA andPKLR genes in a family with CIPA and pyruvate kinase deficiency

Yasuhiro Indo, Sek Mardy, Yuichi Miura et al. · Human Mutation · 2001 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Improved neurological outcome in children with chronic renal disease from infancy

Abdelaziz Y. Elzouki, James E. Carroll, Duśan Butinar et al. · Pediatric Nephrology · 1994 · 61 citations

Medicine, Neurology, Pediatrics +14

X‐linked spastic paraplegia: evidence for homogeneity with a variable phenotype

Jack Goldblatt, Robea Ballo, Brenda Sachs et al. · Clinical Genetics · 1989 · 44 citations

Life Sciences, Genetics, Molecular Genetics +16