Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

1987 • 45,673 citations

Identification and characterization of a spinal muscular atrophy-determining gene

1995 • 3,722 citations

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

1998 • 3,377 citations

Detection of specific polymerase chain reaction product by utilizing the 5'----3' exonuclease activity of Thermus aquaticus DNA polymerase.

1991 • 2,688 citations

El escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis

1994 • 2,090 citations

Selective loss of glial glutamate transporter GLT‐1 in amyotrophic lateral sclerosis

1995 • 1,430 citations

Kainic acid as a tool in neurobiology

1978 • 1,314 citations

Decreased Glutamate Transport by the Brain and Spinal Cord in Amyotrophic Lateral Sclerosis

1992 • 1,170 citations

An excitatory amino-acid transporter with properties of a ligand-gated chloride channel

1995 • 1,124 citations

Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex

1994 • 988 citations

Excitatory amino acid transporter 5, a retinal glutamate transporter coupled to a chloride conductance

1997 • 909 citations

Aberrant RNA Processing in a Neurodegenerative Disease: the Cause for Absent EAAT2, a Glutamate Transporter, in Amyotrophic Lateral Sclerosis

1998 • 663 citations

Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis

1990 • 630 citations

Frameshift Mutants of β Amyloid Precursor Protein and Ubiquitin-B in Alzheimer's and Down Patients

1998 • 558 citations

RNA surveillance: unforeseen consequences for gene expression, inherited genetic disorders and cancer

1999 • 400 citations

Glutamate transporter gene expression in amyotrophic lateral sclerosis motor cortex

1996 • 237 citations

Reduction of GluR2 RNA editing, a molecular change that increases calcium influx through AMPA receptors, selective in the spinal ventral gray of patients with amyotrophic lateral sclerosis

1999 • 194 citations

The RNA of the glutamate transporter EAAT2 is variably spliced in amyotrophic lateral sclerosis and normal individuals

1999 • 128 citations

Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis

1998 • 113 citations

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

2000 • 84 citations

Identification of alternative splicing forms of GLT-1 mRNA in the spinal cord of amyotrophic lateral sclerosis patients

1998 • 81 citations

Alternative splicing of the glutamate transporter EAAT2 (GLT-1)

1998 • 56 citations

Exon Skipping Caused by a Base Substitution at a Splice Site in the GTP Cyclohydrolase I Gene in a Japanese Family with Hereditary Progressive Dystonia/DOPA-Responsive Dystonia

1995 • 48 citations

Ribonuclease Activity of Human Cerebrospinal Fluid

1977 • 19 citations

INVITED REVIEW - Inherited skeletal muscle disorders

1999 • 3 citations