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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
AMYOTROPHIC lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord1,2. Its cause is unknown and it is uniformly fatal, typically within five… Expand
A Drosophila gene encoding a protein resembling the human beta-amyloid protein precursor.
- D. R. Rosen, L. Martin-Morris, L. Luo, K. White
- Biology, Medicine
- Proceedings of the National Academy of Sciences…
- 1 April 1989
We have isolated genomic and cDNA clones for a Drosophila gene resembling the human beta-amyloid precursor protein (APP). This gene produces a nervous system-enriched 6.5-kilobase transcript.… Expand
vnd, a gene required for early neurogenesis of Drosophila, encodes a homeodomain protein.
The development of the central nervous system in Drosophila is initiated by the segregation of neuroblasts, the neural progenitors, from the embryonic neuroectoderm. This process is guided by at… Expand
Preanesthetic sedation of preschool children using intranasal midazolam.
Molecular analysis of the locus elav in Drosophila melanogaster: a gene whose embryonic expression is neural specific.
The embryonic lethal abnormal visual system (elav) locus in Drosophila melanogaster, a vital gene mapping within the 1B5‐1B9 region of the X‐chromosome has been cloned and analysed. Previous… Expand
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
Familial amyotrophic lateral sclerosis (FALS), a degenerative disorder of motor neurons, is associated with mutations in the Cu/Zn superoxide dismutase gene SOD1 in some affected families. We confirm… Expand
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
- G. Sjöberg, C. Saavedra-Matiz, +4 authors T. Sejersen
- Medicine, Biology
- Human molecular genetics
- 1 November 1999
In some myopathies of distal onset, the intermediate filament desmin is abnormally accumulated in skeletal and cardiac muscle. We report the first point mutation in desmin cosegregating with an… Expand
Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.
- D. R. Rosen, P. Sapp, +6 authors R. Brown
- Biology, Medicine
- American journal of medical genetics
- 15 May 1994
Amyotrophic lateral sclerosis (ALS: Lou Gehrig's Disease) is a lethal neurodegenerative disease of upper and lower motorneurons in the brain and spinal cord. We previously reported linkage of a gene… Expand
Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures
Article abstract Several aspects of pyridoxine-dependent seizure (PDS) suggest a mutation affecting glutamate decarboxylase (GAD) as a possible cause. To examine the possibility of GAD linkage with… Expand
A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter
Objective: To establish genetic linkage between polymorphic microsatellite loci and a disease locus responsible for an autosomal recessive type of nonsyndromic mental retardation (MR). Background:… Expand