P. Sapp

Robert H. Brown, S. Purcell, J. Glass, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

O. King, P. Kang, P. Sapp, 2014, Clinical Epigenetics.

Title: Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis

Robert H. Brown, M. Weale, F. Baas, 2016 .

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

H. Horvitz, Robert H. Brown, R. Orrell, 1996, Neuromuscular Disorders.

Identification of three novel mutations in the gene for Cu Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis

H. Horvitz, Robert H. Brown, P. Sapp, 1995, Neuromuscular Disorders.

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.

J. Haines, M. Pericak-Vance, H. Horvitz, 2003, American journal of human genetics.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

R. Ophoff, H. Horvitz, S. Heath, 2009, Proceedings of the National Academy of Sciences.

Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden

Robert H. Brown, P. Andersen, D. Czell, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

D. Goldstein, Robert H. Brown, A. Fox, 2012, Neurology.

A high-throughput screen to identify inhibitors of SOD1 transcription.

Robert H. Brown, R. Ferrante, W. Matson, 2012, Frontiers in bioscience.

Deleterious Variants of FIG 4 , a Phosphoinositide Phosphatase , in Patients with ALS Citation

Robert H. Brown, J. Landers, M. Meisler, 2008 .

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22.

J. Haines, M. Pericak-Vance, H. Horvitz, 2000, JAMA.

Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.

H. Horvitz, M. Beal, P. Sapp, 1994, Human molecular genetics.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

Ewout J. N. Groen, A. Hofman, A. Uitterlinden, 2010, Human molecular genetics.

Genome-wide Analyses Id entify KIF 5 A as a Novel ALS Gene Highlights

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2018 .

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Paraoxonase gene mutations in amyotrophic lateral sclerosis

Robert H. Brown, D. A. Bosco, J. Glass, 2010, Annals of neurology.

Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS

Robert H. Brown, R. Tanzi, L. Bertram, 2012, Neurobiology of Disease.

Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis

S. C. Chafe, D. Goldstein, Robert H. Brown, 2012, Nature.

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.

Robert H. Brown, D. A. Bosco, L. Hayward, 2010, Human molecular genetics.

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

J. Landers, C. Gellera, P. Keagle, 2009, Neurology.

Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.

J. Haines, H. Horvitz, J. Gusella, 1994, American journal of medical genetics.

Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33

J. Haines, H. Horvitz, M. Hamida, 1998, Neurogenetics.

A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

Robert H. Brown, M. Hegde, P. Sapp, 2014, Annals of clinical and translational neurology.

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

H. Horvitz, Robert H. Brown, L. Petrucelli, 2015, Neuron.

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.

Guy A Rouleau, Ute Woehlbier, Robert H. Brown, 2015, Gene.

A common haplotype within the PON1 promoter region is associated with sporadic ALS

Robert H. Brown, A. Al-Chalabi, C. Shaw, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Motoneuron-specific NR3B gene

K. Kidd, J. Landers, W. Speed, 2008, Neurology.

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

Michelle K. Lupton, T. Hortobágyi, Robert H. Brown, 2012, European Journal of Human Genetics.

Mutational analysis of TARDBP in neurodegenerative diseases

Robert H. Brown, J. Landers, P. Keagle, 2011, Neurobiology of Aging.

Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

P. Andersen, M. Morita, E. Elahi, 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

The distinct genetic pattern of ALS in Turkey and novel mutations

Robert H. Brown, J. Landers, M. Günel, 2015, Neurobiology of Aging.

No association of DYNC1H1 with sporadic ALS in a case‐control study of a northern European derived population: A tagging SNP approach

D. Goldstein, Robert H. Brown, K. Ahmadi, 2006, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

SOD1A4V-mediated ALS: Absence of a closely linked modifier gene and origination in Asia

A. Iafrate, A. Al-Chalabi, P. Sapp, 2008, Neuroscience Letters.

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS

A. Al-Chalabi, C. Shaw, J. Glass, 2008, Neurology.

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

P. Andersen, P. Sapp, D. McKenna-Yasek, 2006, Neuroscience Letters.

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

J. Haines, M. Pericak-Vance, H. Horvitz, 2009, Science.

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

Robert H. Brown, D. A. Bosco, C. Shaw, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.

J. Haines, M. Pericak-Vance, H. Horvitz, 1991, The New England journal of medicine.

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

R. Ophoff, H. Horvitz, P. Sham, 2008, Human molecular genetics.

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

M. Pericak-Vance, H. Horvitz, P. D. de Jong, 2009, Science.

A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

Ewout J. N. Groen, L. Wain, M. Tobin, 2010, Human molecular genetics.

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.

D. A. Bosco, L. Hayward, P. Sapp, 2010, Human molecular genetics.

A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

M. Hegde, P. Sapp, J. Dominov, 2014, Annals of clinical and translational neurology.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, F. Baas, T. Meitinger, 2016, Nature Genetics.

Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis

S. C. Chafe, D. Goldstein, M. Moore, 2012, Nature.