Genetics of familial and sporadic 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

Identification and characterization of a spinal muscular atrophy-determining gene

1995 • 3,722 citations

A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

1996 • 3,682 citations

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

1998 • 3,377 citations

Tau Suppression in a Neurodegenerative Mouse Model Improves Memory Function

2005 • 1,906 citations

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

1995 • 1,430 citations

An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria

1995 • 1,424 citations

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

1999 • 1,418 citations

ALS-Linked SOD1 Mutant G85R Mediates Damage to Astrocytes and Promotes Rapidly Progressive Disease with SOD1-Containing Inclusions

1997 • 1,313 citations

Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein

2000 • 1,311 citations

Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

1996 • 1,261 citations

Dose-ranging study of riluzole in amyotrophic lateral sclerosis

1996 • 1,248 citations

Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1

1998 • 1,207 citations

Wild-Type Nonneuronal Cells Extend Survival of SOD1 Mutant Motor Neurons in ALS Mice

2003 • 1,076 citations

Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration

2001 • 1,012 citations

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

2004 • 946 citations

Mutant dynactin in motor neuron disease

2003 • 933 citations

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

1999 • 908 citations

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

2003 • 858 citations

Focal loss of the glutamate transporter EAAT2 in a transgenic rat model of SOD1 mutant-mediated amyotrophic lateral sclerosis (ALS)

2002 • 822 citations

Overexpression of Tau Protein Inhibits Kinesin-dependent Trafficking of Vesicles, Mitochondria, and Endoplasmic Reticulum: Implications for Alzheimer's Disease

1998 • 800 citations

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

2004 • 787 citations

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

2001 • 722 citations

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy

2000 • 721 citations

Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1

1991 • 703 citations

Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis.

1995 • 694 citations

A mouse model for spinal muscular atrophy

2000 • 687 citations

Natural history of amyotrophic lateral sclerosis in a database population Validation of a scoring system and a model for survival prediction

1995 • 683 citations

The Primary Structure and Heterogeneity of Tau Protein from Mouse Brain

1988 • 671 citations

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

1998 • 663 citations

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

2001 • 660 citations

Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis

1990 • 630 citations

Biomagnification of cyanobacterial neurotoxins and neurodegenerative disease among the Chamorro people of Guam

2003 • 598 citations

Structure and novel exons of the human .tau. gene

1992 • 587 citations

Age-Dependent Emergence and Progression of a Tauopathy in Transgenic Mice Overexpressing the Shortest Human Tau Isoform

1999 • 552 citations

Disruption of Dynein/Dynactin Inhibits Axonal Transport in Motor Neurons Causing Late-Onset Progressive Degeneration

2002 • 530 citations

Epidemiology of mutations in superoxide dismutase in amyotrophic lateal sclerosis

1997 • 517 citations

RNA editing and death of motor neurons

2004 • 513 citations

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

2004 • 500 citations

Neuron-Specific Expression of Mutant Superoxide Dismutase 1 in Transgenic Mice Does Not Lead to Motor Impairment

2001 • 469 citations

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17

1998 • 464 citations

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

1994 • 458 citations

Control of Embryonic Motoneuron Survival in Vivo by Ciliary Neurotrophic Factor

1991 • 448 citations

Microtubule organization and dynamics dependent on microtubule-associated proteins

1994 • 411 citations

Accumulation of SOD1 Mutants in Postnatal Motoneurons Does Not Cause Motoneuron Pathology or Motoneuron Disease

2002 • 409 citations

Point mutations of the p150 subunit of dynactin ( DCTN1 ) gene in ALS

2004 • 409 citations

A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

2000 • 405 citations

Familial adult motor neuron disease: amyotrophic lateralsclerosis

1986 • 401 citations

Prominent Axonopathy in the Brain and Spinal Cord of Transgenic Mice Overexpressing Four-Repeat Human tau Protein

1999 • 378 citations

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

1991 • 373 citations

Delayed Maturation of Regenerating Myelinated Axons in Mice Lacking Neurofilaments

1997 • 372 citations

Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management

1985 • 369 citations

Restricted Expression of G86R Cu/Zn Superoxide Dismutase in Astrocytes Results in Astrocytosis But Does Not Cause Motoneuron Degeneration

2000 • 364 citations

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

1999 • 355 citations

The role of tau (MAPT) in frontotemporal dementia and related tauopathies

2004 • 342 citations

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

2001 • 333 citations

Functions of intermediate filaments in neuronal development and disease

2003 • 324 citations

Linkage of Familial Amyotrophic Lateral Sclerosis With Frontotemporal Dementia to Chromosome 9q21-q22

2000 • 316 citations

Rats Expressing Human Cytosolic Copper–Zinc Superoxide Dismutase Transgenes with Amyotrophic Lateral Sclerosis: Associated Mutations Develop Motor Neuron Disease

2001 • 316 citations

The p150Glued component of the dynactin complex binds to both microtubules and the actin-related protein centractin (Arp-1).

1995 • 307 citations

Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature

2003 • 304 citations

Clinical characteristics of a family with chromosome 17‐linked disinhibition‐dementia‐ parkinsonism‐amyotrophy complex

1994 • 287 citations

Glutamate levels in cerebrospinal fluid in amyotrophic lateral sclerosis: a reappraisal using a new HPLC method with coulometric detection in a large cohort of patients

2002 • 268 citations

Molecular Basis of Angiogenesis: Role of VEGF and VE‐Cadherin

2000 • 263 citations

Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation: A clinical and genealogical study of 36 patients

1996 • 258 citations

Iron and dioxygen chemistry is an important route to initiation of biological free radical oxidations: an electron paramagnetic resonance spin trapping study

1999 • 257 citations

Dynactin Is Necessary for Synapse Stabilization

2002 • 255 citations

Differential expression of two neuronal intermediate-filament proteins, peripherin and the low-molecular-mass neurofilament protein (NF-L), during the development of the rat

1990 • 250 citations

ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics

2003 • 245 citations

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model

2002 • 245 citations

Biomagnification of cycad neurotoxins in flying foxes

2003 • 242 citations

Late Onset Death of Motor Neurons in Mice Overexpressing Wild-Type Peripherin

1999 • 239 citations

Fibrillar Inclusions and Motor Neuron Degeneration in Transgenic Mice Expressing Superoxide Dismutase 1 with a Disrupted Copper-Binding Site

2002 • 233 citations

Occupational Exposures and Amyotrophic Lateral Sclerosis. A Population-based Case-Control Study

1997 • 232 citations

Familial amyotrophic lateral sclerosis

2002 • 231 citations

Drosophila VAP-33A Directs Bouton Formation at Neuromuscular Junctions in a Dosage-Dependent Manner

2002 • 214 citations

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

2002 • 211 citations

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

1994 • 202 citations

A null mutation in the human CNTF gene is not causally related to neurological diseases

1994 • 202 citations

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E

2001 • 197 citations

A Frameshift Deletion in Peripherin Gene Associated with Amyotrophic Lateral Sclerosis

2004 • 194 citations

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

1998 • 188 citations

2‐Amino‐3‐(methylamino)‐propanoic acid (BMAA) in cycad flour

1990 • 187 citations

A novel candidate region for ALS on chromosome 14q11.2

2004 • 183 citations

Alsin Is a Rab5 and Rac1 Guanine Nucleotide Exchange Factor

2004 • 181 citations

Variation in the Biochemical/Biophysical Properties of Mutant Superoxide Dismutase 1 Enzymes and the Rate of Disease Progression in Familial Amyotrophic Lateral Sclerosis Kindreds

1999 • 179 citations

Molecular Cloning and Characterization of Mammalian Homologues of Vesicle-Associated Membrane Protein-Associated (VAMP-Associated) Proteins

1999 • 173 citations

Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)

1998 • 171 citations

Population-Based Case-Control Study of Amyotrophic Lateral Sclerosis in Western Washington State. I. Cigarette Smoking and Alcohol Consumption

2000 • 170 citations

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

1998 • 169 citations

A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis

1994 • 156 citations

Mutations in all five exons of SOD‐1 may cause ALS

1998 • 150 citations

Prospective Study of Cigarette Smoking and Amyotrophic Lateral Sclerosis

2004 • 149 citations

Disruption of Type IV Intermediate Filament Network in Mice Lacking the Neurofilament Medium and Heavy Subunits

1999 • 142 citations

Recent advances in amyotrophic lateral sclerosis

2000 • 139 citations

A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q

2002 • 138 citations

Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of novel insertion mutation

1997 • 132 citations

Identification of Two Novel Loci for Dominantly Inherited Familial Amyotrophic Lateral Sclerosis

2003 • 131 citations

A neurotoxic peripherin splice variant in a mouse model of ALS

2003 • 126 citations

Effects of vascular endothelial growth factor (VEGF) on motor neuron degeneration

2004 • 120 citations

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

2001 • 119 citations

Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences

2004 • 117 citations

Apoptotic death of neurons exhibiting peripherin aggregates is mediated by the proinflammatory cytokine tumor necrosis factor-α

2001 • 115 citations

Loss ofALS2Function Is Insufficient to Trigger Motor Neuron Degeneration in Knock-Out Mice But Predisposes Neurons to Oxidative Stress

2005 • 115 citations

Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a SOD-1 Mutation: Potential Impact of CNTF as a Candidate Modifier Gene

2002 • 114 citations

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

1998 • 113 citations

Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

1995 • 109 citations

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

2005 • 106 citations

Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS

2005 • 105 citations

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

2005 • 103 citations

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

2005 • 103 citations

D90A-SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for aCis-acting disease modifier in the recessive haplotype

2002 • 101 citations

Association of Cigarette Smoking with Amyotrophic Lateral Sclerosis

1999 • 100 citations

A type III intermediate filament gene is expressed in mature neurons

1988 • 97 citations

Identification of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): a broadly expressed protein that binds to VAMP

1998 • 94 citations

Association of APOE ε4 allele with survival in amyotrophic lateral sclerosis

2001 • 94 citations

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile‐onset ascending spastic paralysis with bulbar involvement in two siblings

2003 • 94 citations

Microtubule-associated Proteins Regulate Microtubule Function as the Track for Intracellular Membrane Organelle Transports.

1996 • 94 citations

Evidence of reduced DNA repair in amyotrophic lateral sclerosis brain tissue

1997 • 93 citations

Alsin, the Product of ALS2 Gene, Suppresses SOD1 Mutant Neurotoxicity through RhoGEF Domain by Interacting with SOD1 Mutants

2004 • 89 citations

Mutant AP endonuclease in patients with amyotrophic lateral sclerosis

1998 • 88 citations

Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others

1994 • 88 citations

Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis

1996 • 87 citations

Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

1999 • 87 citations

Genetics of familial ALS and consequences for diagnosis

1999 • 86 citations

Two Families with Familial Amyotrophic Lateral Sclerosis Are Linked to a Novel Locus on Chromosome 16q

2003 • 85 citations

Apolipoprotein E ?4 allele is not associated with earlier age at onset in amyotrophic lateral sclerosis

1995 • 85 citations

ALS2/Alsin Regulates Rac-PAK Signaling and Neurite Outgrowth

2005 • 85 citations

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

2003 • 84 citations

Physical Trauma and Family History of Neurodegenerative Diseases in Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study

1999 • 81 citations

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family

2001 • 80 citations

TAU as a Susceptibility Gene for Amyotropic Lateral Sclerosis–Parkinsonism Dementia Complex of Guam

2001 • 77 citations

Association between centromeric deletions of the SMN gene and sporadic adult‐onset lower motor neuron disease

1998 • 76 citations

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis

2004 • 74 citations

APOE: A potential marker of disease progression in ALS

2002 • 72 citations

A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12.1-16q12.2

2003 • 68 citations

The Guam Cycad Toxin Methylazoxymethanol Damages Neuronal DNA and Modulates Tau mRNA Expression and Excitotoxicity

1999 • 68 citations

Homo-oligomerization of ALS2 through Its Unique Carboxyl-terminal Regions Is Essential for the ALS2-associated Rab5 Guanine Nucleotide Exchange Activity and Its Regulatory Function on Endosome Trafficking

2004 • 66 citations

A Functional Role for VAP‐33 in Insulin‐Stimulated GLUT4 Traffic

2000 • 64 citations

Amyotrophic lateral sclerosis, rural environment and agricultural work in the Local Health District of Ferrara, Italy, in the years 1964–1998

2005 • 61 citations

Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous naip deletion in a sporadic case

1996 • 56 citations

Genetic Mapping of a Mouse Modifier Gene That Can Prevent ALS Onset

2000 • 55 citations

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

2001 • 55 citations

Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis

2005 • 50 citations

Two novel mutations in the gene for coppe zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

1995 • 50 citations

Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis

1998 • 49 citations

HFE mutations are not strongly associated with sporadic ALS

2004 • 47 citations

The relationship of spinal muscular atrophy to motor neuron disease: Investigation of SMN and NAIP gene deletions in sporadic and familial ALS

1997 • 47 citations

Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patients

1999 • 45 citations

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

2003 • 44 citations

Cerebral lesions in familial amyotrophic lateral sclerosis and dementia

1973 • 44 citations

Deletions Causing Spinal Muscular Atrophy Do Not Predispose to Amyotrophic Lateral Sclerosis

1999 • 42 citations

Mutation Screening of the ALS2 Gene in Sporadic and Familial Amyotrophic Lateral Sclerosis

2003 • 42 citations

The EAAT2 (GLT-1) gene in motor neuron disease: absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia

1998 • 40 citations

VEGF PROMOTER HAPLOTYPE AND AMYOTROPHIC LATERAL SCLEROSIS (ALS)

2004 • 38 citations

Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis

1995 • 35 citations

A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4 ) localizes to a 500-kb interval on chromosome 9q34

2000 • 35 citations

Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS)

2000 • 33 citations

Autosomal dominant late adult spinal muscular atrophy, type finkel

1981 • 30 citations

Potential implications of a ciliary neurotrophic factor gene mutation in a german population of patients with motor neuron disease

1998 • 28 citations

Potential implications of a ciliary neurotrophic factor gene mutation in a german population of patients with motor neuron disease

1998 • 25 citations

Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis

1996 • 25 citations

Analysis of visual system development in Drosophila melanogaster: Mutations at the Glued locus

1983 • 25 citations

Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes

2005 • 20 citations

High rate of constitutional chromosomal rearrangements in apparently sporadic ALS

2003 • 20 citations

Cytoskeletal Defects in Amyotrophic Lateral Sclerosis (Motor Neuron Disease)

2005 • 18 citations

SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist

2002 • 16 citations

No evidence of linkage to chromosome 9q21–22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis

2003 • 13 citations

Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis

2003 • 7 citations

Cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis

1995 • 6 citations

Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS

2003 • 5 citations

Deleted Work

1955 • 0 citations