The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1993 • 6,762 citations

Motor Neuron Degeneration in Mice that Express a Human Cu,Zn Superoxide Dismutase Mutation

1994 • 3,959 citations

Strategies for multilocus linkage analysis in humans.

1984 • 2,600 citations

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

1994 • 2,090 citations

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

2000 • 1,771 citations

Faster sequential genetic linkage computations.

1993 • 1,378 citations

Alignment of whole genomes

1999 • 918 citations

Ras and Rho GTPases

2000 • 779 citations

Pfam: multiple sequence alignments and HMM-profiles of protein domains

1998 • 739 citations

Analysis of Human Genetic Linkage.

1987 • 709 citations

Signal-dependent membrane targeting by pleckstrin homology (PH) domains

2000 • 692 citations

Avoiding Recomputation in Linkage Analysis

1994 • 679 citations

JunctophilinsA Novel Family of Junctional Membrane Complex Proteins

2000 • 589 citations

Analysis of Human Genetic Linkage

1992 • 555 citations

PRIMARY LATERAL SCLEROSIS: CLINICAL FEATURES, NEUROPATHOLOGY AND DIAGNOSTIC CRITERIA

1992 • 413 citations

Linkage of a Gene Causing Familial Amyotrophic Lateral Sclerosis to Chromosome 21 and Evidence of Genetic-Locus Heterogeneity

1991 • 373 citations

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

2001 • 343 citations

SMART: identification and annotation of domains from signalling and extracellular protein sequences

1999 • 325 citations

REGULATED mRNA STABILITY

1990 • 279 citations

The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu,Zn superoxide dismutase becomes fragmented in early, preclinical stages of the disease.

1996 • 224 citations

From Charcot to SOD1

1999 • 224 citations

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

1996 • 211 citations

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35

1994 • 202 citations

C-terminal Truncations Destabilize the Cystic Fibrosis Transmembrane Conductance Regulator without Impairing Its Biogenesis

1999 • 201 citations

Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34

1998 • 188 citations

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

1998 • 169 citations

HEREDITARY MOTOR SYSTEM DISEASES (CHRONIC JUVENILE AMYOTROPHIC LATERAL SCLEROSIS)

1990 • 167 citations

Vps9p Is a Guanine Nucleotide Exchange Factor Involved in Vesicle-mediated Vacuolar Protein Transport

1999 • 135 citations

Primary Lateral Sclerosis

1988 • 121 citations

A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice

1998 • 93 citations

Primary Lateral Sclerosis

1981 • 83 citations

Biochemical Characterization and Subcellular Localization of the Mouse Retinitis Pigmentosa GTPase Regulator (mRpgr)

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Pure Spastic Paralysis of Corticospinal Origin

1977 • 74 citations

A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70

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Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool

1992 • 57 citations

PRIMARY LATERAL SCLEROSIS

1945 • 57 citations

Clinicopathological features of primary lateral sclerosis are different from amyotrophic lateral sclerosis

1993 • 56 citations

SOD1 aggregates in ALS: Cause, correlate or consequence?

1998 • 54 citations

Motor‐evoked responses in primary lateral sclerosis

1992 • 50 citations

Infantile Onset of Hereditary Ascending Spastic Paralysis With Bulbar Involvement

1996 • 41 citations

Familial Childhood Primary Lateral Sclerosis with Associated Gaze Paresis

1995 • 40 citations

Some Importin News About Spindle Assembly

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Clinical and Electrophysiological Studies in Primary Lateral Sclerosis

1982 • 31 citations

Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.

1994 • 28 citations

Primary lateral sclerosis in a child

1989 • 24 citations

Primary lateral sclerosis; a debated entity

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Transgenic Mouse Models and Human Neurodegenerative Disorders

2000 • 18 citations

Die chronisch-progrediente spinobulbäre Spastik (primäre Lateralsklerose)

1996 • 7 citations