K. Boylan

K. Boylan, J. Salassa, Christopher M Garvey, 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice

L. Petrucelli, D. Dickson, M. Hutton, 2010, The Journal of Neuroscience.

Werdnig‐Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance

D. Cornblath, K. Boylan, 1992, Annals of neurology.

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

Martin N. Rossor, Margaret Sutherland, Colin J. Mahoney, 2012, PloS one.

ALSUntangled 38: L-serine

R. Conwit, J. Licht, P. Andersen, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

Kevin F. Bieniek, D. Geschwind, M. Mesulam, 2013, Neurology.

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

Kevin F. Bieniek, M. Mesulam, L. Petrucelli, 2014, Acta Neuropathologica.

ALS Untangled No. 20: The Deanna Protocol

R. Conwit, J. Licht, P. Andersen, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

ALSUntangled 15: Coconut Oil

R. Conwit, J. Licht, P. Andersen, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

ALSUntangled No. 36: Accilion

R. Conwit, J. Licht, P. Andersen, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

L. Petrucelli, M. Murray, D. Dickson, 2016, Nature Neuroscience.

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis

T. Ferman, D. Dickson, R. Uitti, 2013, Neurology.

Old age amyotrophic lateral sclerosis and limbic TDP‐43 pathology

L. Petrucelli, D. Dickson, K. Josephs, 2022, Brain pathology.

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

Christian A. Ross, Kevin F. Bieniek, Hu Li, 2015, Nature Neuroscience.

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

Kevin F. Bieniek, M. Murray, D. Dickson, 2015, Acta Neuropathologica.

TARDBP mutations in Parkinson's disease.

L. Petrucelli, D. Dickson, R. Uitti, 2013, Parkinsonism & related disorders.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Emily A. Scarborough, J. Trojanowski, A. Pestronk, 2013 .

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

R. Petersen, B. Boeve, D. Knopman, 2012, Neurobiology of Aging.

Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS

M. Gearing, J. Glass, J. Rothstein, 2012, Proceedings of the National Academy of Sciences.

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

M. Mesulam, D. Dickson, E. Bigio, 2017, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

L. Petrucelli, R. Petersen, B. Boeve, 2015, Acta Neuropathologica.

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.

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion

R. Petersen, R. Ivnik, B. Boeve, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

Z. Wszolek, N. Graff-Radford, J. Kocerha, 2010, Human mutation.

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

Kevin F. Bieniek, L. Petrucelli, Y. Asmann, 2017, Neurology: Genetics.

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

D. Dykxhoorn, L. Petrucelli, D. Dickson, 2016, Experimental Neurology.

Headache rate and cost of care following lumbar puncture at a single tertiary care hospital

K. Boylan, Leighanne R. McGill, 2011, Neurology.

Jump from pre-mutation to pathologic expansion in C9orf72.

D. Dickson, P. Fraser, E. Rogaeva, 2015, American journal of human genetics.

Title : Phosphorylated neurofilament heavy chain : a biomarker of survival for C 9 ORF 72-associated amyotrophic lateral sclerosis

Leonard, William T. Hu, J. Trojanowski, 2017 .

Post-lumbar puncture headache is reduced with use of atraumatic needles in ALS

M. Cudkowicz, R. Bowser, J. Berry, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

DNA length polymorphism 5′ to the myelin basic protein gene is associated with multiple sclerosis

S. Prusiner, D. Paty, A. Sadovnick, 1990, Annals of neurology.

Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease.

M. Phillips, J. Fujii, D. Cornblath, 1995, Genomics.

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

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

Utility of subcutaneous fat aspiration for diagnosing amyloidosis in patients with isolated peripheral neuropathy.

R. Kyle, K. Boylan, D. Menke, 2002, Mayo Clinic proceedings.

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

Robert H. Brown, L. Petrucelli, B. Boeve, 2014, Neuron.

Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita

D. Ferriero, C. Greco, K. Boylan, 1992, Annals of neurology.

Characterization of cloned cDNA representing rat myelin basic protein: Absence of expression in brain of shiverer mutant mice

L. Hood, S. Prusiner, K. Boylan, 1983, Cell.

ALSUntangled: Introducing The Table of Evidence

R. Conwit, J. Licht, P. Andersen, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Characterization of frontotemporal dementia +/- amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

R. Petersen, B. Boeve, O. Pedraza, 2012, Alzheimer's & Dementia.

Progressive dystonia following resuscitation from cardiac arrest

S. DeArmond, K. Boylan, J. Chin, 1990, Neurology.

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

David T. Jones, C. Jack, R. Petersen, 2012, Brain : a journal of neurology.

Conjugal amyotrophic lateral sclerosis

L. Morrison, L. Kurland, K. Radhakrishnan, 1993, Neurology.

Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin

L. Kunkel, C. H. Gama, K. Boylan, 1995, Annals of neurology.

ALS biomarkers for therapy development: State of the field and future directions

L. Bruijn, M. Benatar, A. Jeromin, 2016, Muscle & nerve.

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

L. Petrucelli, D. Dickson, C. Link, 2017, Human molecular genetics.

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

Chadwick M. Hales, Daniela C. Zarnescu, L. Petrucelli, 2017, Alzheimer's & Dementia.

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

Kevin F. Bieniek, L. Petrucelli, Y. Asmann, 2017, Acta Neuropathologica.

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

T. Ferman, M. Murray, D. Dickson, 2011, Acta Neuropathologica.

Repetitive DNA (TGGA)n 5' to the human myelin basic protein gene: a new form of oligonucleotide repetitive sequence showing length polymorphism.

L. Hood, S. Prusiner, T. Ayres, 1990, Genomics.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

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

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

D. Geschwind, L. Petrucelli, R. Petersen, 2008, PLoS genetics.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Michael Benatar, Steven A Greenberg, Aaron D Gitler, 2013, Nature.

Amyotrophic Lateral Sclerosis and Primary Lateral Sclerosis

M. Ross, E. Sorenson, K. Boylan, 2017 .

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Kevin F. Bieniek, R. Petersen, B. Boeve, 2015, Acta Neuropathologica.

A yeast functional screen predicts new candidate ALS disease genes

J. Trojanowski, R. Kalb, D. Dickson, 2011, Proceedings of the National Academy of Sciences.

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

M. Mesulam, L. Petrucelli, R. Petersen, 2017, Neuron.

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease

R. Petersen, B. Boeve, D. Knopman, 2013, Molecular Neurodegeneration.

ALS Untangled No. 17: “When ALS Is Lyme”

R. Conwit, J. Licht, P. Andersen, 2012, Amyotrophic Lateral Sclerosis.

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

Stanley N Cohen, L. Petrucelli, R. Petersen, 2016, Science.

Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease

Christian A. Ross, Hu Li, D. Dickson, 2017, Acta Neuropathologica.

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.

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

Kevin F. Bieniek, L. Petrucelli, D. Dickson, 2013, Acta Neuropathologica.

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

M. Mesulam, L. Petrucelli, R. Petersen, 2014, Neurobiology of Aging.

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.

D. Hernandez, A. Singleton, S. Züchner, 2013, American journal of human genetics.

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

L. Petrucelli, R. Petersen, B. Boeve, 2013, The Lancet Neurology.

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

L. Petrucelli, D. Dickson, T. Patel, 2013, Acta Neuropathologica.

Subcutaneous IGF-1 is not beneficial in 2-year ALS trial

W. Bamlet, S. Subramony, J. Mandrekar, 2008, Neurology.

A novel, efficient, randomized selection trial comparing combinations of drug therapy for ALS

J. Lou, A. Pestronk, H. Andrews, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Efficacy of minocycline in patients with amyotrophic lateral sclerosis: a phase III randomised trial

H. Mitsumoto, Robert G. Miller, R. Barohn, 2007, The Lancet Neurology.

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank

Kevin F. Bieniek, B. Boeve, D. Dickson, 2015, Acta Neuropathologica.

Autosomal dominant distal spinal muscular atrophy in four generations

T. Gilliam, J. Glass, D. Cornblath, 1995, Neurology.

Poly(Gp) Proteins Are A Useful Pharmacodynamic Marker For C9Orf72-Associated Amyotrophic Lateral Sclerosis

William T. Hu, Robert H. Brown, L. Petrucelli, 2017 .

Phosphorylated neurofilament heavy subunit (pNF-H) in peripheral blood and CSF as a potential prognostic biomarker in amyotrophic lateral sclerosis

Gerry Shaw, Jonathan D Glass, J. Glass, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

Kevin F. Bieniek, M. Murray, D. Dickson, 2013, Acta Neuropathologica.

ALSUntangled No. 16: Cannabis

R. Conwit, J. Licht, P. Andersen, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Defining Normal Duration for Afterdischarges With Repetitive Nerve Stimulation: A Pilot Study

M. Heckman, J. Crook, D. Rubin, 2009, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

Defining SOD1 ALS natural history to guide therapeutic clinical trial design

A. Pestronk, J. Glass, T. Siddique, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

Kevin F. Bieniek, L. Petrucelli, R. Petersen, 2015, Acta Neuropathologica.

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

L. Petrucelli, Y. Zhang, N. Seyfried, 2018, Nature Neuroscience.

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

Peter K. Todd, Robert H. Brown, L. Petrucelli, 2014, Neuron.

ALSUntangled No. 26: Lunasin

R. Conwit, J. Licht, P. Andersen, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

N. Ertekin-Taner, O. Ross, K. Boylan, 2011, Neurology.

Immunoreactivity of the phosphorylated axonal neurofilament H subunit (pNF‐H) in blood of ALS model rodents and ALS patients: evaluation of blood pNF‐H as a potential ALS biomarker

Gerry Shaw, Yong Wang, D. Borchelt, 2009, Journal of neurochemistry.

Prospective study of cost of care at multidisciplinary ALS centers adhering to American Academy of Neurology (AAN) ALS practice parameters

P. Callas, R. Tandan, T. Levine, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Aprataxin (APTX) gene mutations resembling multiple system atrophy.

M. Farrer, R. Uitti, Z. Wszolek, 2007, Parkinsonism & related disorders.

Unilateral pallidotomy for Parkinson's disease: Comparison of outcome in younger versus elderly patients

C. Adler, S. Goerss, B. Kall, 1997, Neurology.

Nonpharmacologic Management Strategies in ALS #300.

K. Boylan, R. Shannon, Alva Roche-Green, 2016, Journal of palliative medicine.

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

M. Mesulam, L. Petrucelli, R. Petersen, 2014, Molecular Neurodegeneration.

ALSUntangled No. 34: GM604.

R. Conwit, J. Licht, P. Andersen, 2016, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease

B. Boeve, D. Dickson, D. Knopman, 2013, Molecular Neurodegeneration.

ALSUntangled No. 29: MitoQ

R. Conwit, J. Licht, P. Andersen, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

ALSUntangled No. 27: Precision Stem Cell

V. Drory, J. Shefner, K. Sharma, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Amyotrophic lateral sclerosis–specific quality of life–short form (ALSSQOL‐SF): A brief, reliable, and valid version of the ALSSQOL‐R

Stephanie H. Felgoise, Stephen A. Goutman, R. Feinberg, 2018, Muscle & nerve.

Diaphragmatic pacing to facilitate ventilator weaning in neuromyelitis optica-associated respiratory failure.

W. Freeman, K. Boylan, M. Rahmlow, 2012, Multiple Sclerosis and Related Disorders.

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

M. Mesulam, D. Dickson, E. Bigio, 2017, Acta Neuropathologica Communications.

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

L. Petrucelli, B. Boeve, M. Murray, 2014, Molecular Neurodegeneration.

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

D. Geschwind, R. Petersen, B. Boeve, 2011, Neuron.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

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

ALSUntangled No. 36: Accilion

R. Conwit, J. Licht, P. Andersen, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Total laryngectomy in patients with advanced bulbar symptoms of amyotrophic lateral sclerosis

K. Boylan, J. Salassa, K. Kennelly, 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

A novel, efficient, randomized selection trial comparing combinations of drug therapy for ALS

J. Lou, A. Pestronk, H. Andrews, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

Timothy A. Miller, L. Petrucelli, J. Trojanowski, 2017, Science Translational Medicine.

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank

B. Boeve, D. Dickson, Z. Wszolek, 2015, Acta Neuropathologica.

Prospective study of cost of care at multidisciplinary ALS centers adhering to American Academy of Neurology (AAN) ALS practice parameters

P. Callas, R. Tandan, T. Levine, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.