Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors

2007 • 19,034 citations

Amyloid Oligomers Exacerbate Tau Pathology in a Mouse Model of Tauopathy

2012 • 10,051 citations

Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells

2007 • 9,934 citations

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

1993 • 7,941 citations

The serial cultivation of human diploid cell strains

1961 • 7,886 citations

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

1993 • 6,762 citations

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1998 • 5,063 citations

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

1991 • 4,533 citations

α-Synuclein Locus Triplication Causes Parkinson's Disease

2003 • 4,187 citations

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

1995 • 3,985 citations

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

1998 • 3,377 citations

Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

2004 • 3,278 citations

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

1993 • 3,080 citations

Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology

2004 • 2,880 citations

Reprogramming of human somatic cells to pluripotency with defined factors

2007 • 2,846 citations

Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus

1995 • 2,548 citations

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

2008 • 2,514 citations

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

2009 • 2,460 citations

Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease

2004 • 2,358 citations

Disease-Specific Induced Pluripotent Stem Cells

2008 • 2,123 citations

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

1995 • 2,028 citations

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

2006 • 1,929 citations

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

2008 • 1,924 citations

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

2009 • 1,880 citations

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

2006 • 1,444 citations

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

2008 • 1,422 citations

Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells

2012 • 1,134 citations

Identification and characterization of a fibroblast marker: FSP1.

1995 • 1,050 citations

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

2006 • 544 citations

Pharmacological Rescue of Mitochondrial Deficits in iPSC-Derived Neural Cells from Patients with Familial Parkinson’s Disease

2012 • 478 citations

The heritability and genetics of frontotemporal lobar degeneration

2009 • 465 citations

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

2011 • 432 citations

Molecules that Promote or Enhance Reprogramming of Somatic Cells to Induced Pluripotent Stem Cells

2009 • 377 citations

A Human Stem Cell Model of Early Alzheimer’s Disease Pathology in Down Syndrome

2012 • 299 citations

Excitation-induced ataxin-3 aggregation in neurons from patients with Machado–Joseph disease

2011 • 299 citations

DCTN1 mutations in Perry syndrome

2009 • 297 citations

Early onset familial Alzheimer’s disease

2003 • 293 citations

Multilineage-differentiating stress-enduring (Muse) cells are a primary source of induced pluripotent stem cells in human fibroblasts

2011 • 274 citations

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

1995 • 270 citations

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease

2007 • 234 citations

RETRACTED: Directed Conversion of Alzheimer's Disease Patient Skin Fibroblasts into Functional Neurons

2011 • 232 citations

Rapidly progressive autosomal dominant parkinsonism and dementia with pallido‐ponto‐nigral degeneration

1992 • 184 citations

Reprogramming Cellular Identity for Regenerative Medicine

2012 • 181 citations

Frequency of LRRK2 mutations in early- and late-onset Parkinson disease

2006 • 168 citations

Frequency of Known Mutations in Early-Onset Parkinson Disease

2010 • 139 citations

Western Nebraska Family (Family D) with Autosomal Dominant Parkinsonism

1995 • 108 citations

Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond

2006 • 105 citations

Pallidonigral TDP-43 pathology in Perry syndrome

2008 • 101 citations

Clinical Features of Parkinson Disease Patients With Homozygous Leucine-Rich Repeat Kinase 2 G2019S Mutations

2006 • 99 citations

Predictors of Parkin Mutations in Early-Onset Parkinson Disease

2010 • 88 citations

Early-onset familial Alzheimer's disease: Mutation frequency in 31 families

2002 • 84 citations

Clinical features of frontotemporal dementia due to the intronic tau 10 ⁺¹⁶ mutation

2002 • 83 citations

Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases

2012 • 76 citations

ENZYMATIC AND CHROMOSOMAL CHARACTERIZATION OF HELA VARIANTS

1969 • 71 citations

Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations

2009 • 70 citations

Limitations of cellular models in Parkinson’s disease research

2006 • 60 citations

A presenilin 1 R278I mutation presenting with language impairment

2004 • 53 citations

PARKIN as a pathogenic gene for autosomal recessive juvenile parkinsonism

2000 • 52 citations

MRS in presymptomatic MAPT mutation carriers

2010 • 49 citations

Clinical and genetic studies of families with the tau N279K mutation (FTDP-17)

2002 • 35 citations

Familial Alzheimer's disease co‐segregates with a Met 146 Ile substitution in presenilin‐1

1996 • 25 citations

Muse cells and induced pluripotent stem cell: implication of the elite model

2012 • 20 citations

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

2007 • 16 citations

Frontotemporal dementia and parkinsonism linked to chromosome 17 - the first Polish family

2010 • 11 citations

Heredity in Parkinson's disease. From rare mutations to common genetic risk factors.

2011 • 6 citations