A. Waite

发表

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

David Heckerman, Lorne Zinman, Joanne Wuu, 2011, Neuron.

One of Us? How do Developing Market Professionals Engage with International Communities of Practice?

A. Waite, 2018 .

C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

N. Williams, B. Traynor, H. Morris, 2012, Movement disorders : official journal of the Movement Disorder Society.

Psychiatric disorders, myoclonus dystonia, and the epsilon‐sarcoglycan gene: A systematic review

M. Owen, H. Morris, D. Blake, 2011, Movement disorders : official journal of the Movement Disorder Society.

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

L. Petrucelli, S. Mead, J. Collinge, 2013, Acta Neuropathologica.

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

G. Kirov, M. Owen, M. Samuel, 2014, Journal of Neurology.

Recent Advances in the Genetics of the ALS-FTLD Complex

N. Williams, H. Morris, D. Blake, 2012, Current Neurology and Neuroscience Reports.

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

Raymond D. Schellevis, L. H. van den Berg, J. Veldink, 2015, Annals of neurology.

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

H. Morris, D. Blake, J. Neal, 2014, Neurobiology of Aging.

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

D. Hernandez, A. Singleton, N. Williams, 2011, Journal of Neurology.

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.

C. Esapa, R. Sillitoe, D. Blake, 2007, Human molecular genetics.

The dystrophin–glycoprotein complex in brain development and disease

Susan C. Brown, D. Blake, A. Waite, 2012, Trends in Neurosciences.

The neurobiology of the dystrophin-associated glycoprotein complex

D. Blake, A. Waite, C. Tinsley, 2009, Annals of medicine.

The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability

M. Hill, K. Tansey, D. Kavanagh, 2017, Schizophrenia bulletin.

Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation

M. Forrest, D. Blake, A. Waite, 2013, PloS one.

Functional analysis of TCF4 missense mutations that cause Pitt–Hopkins syndrome

M. Forrest, D. Blake, R. Chapman, 2012, Human mutation.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, M. Nalls, 2012, The Lancet Neurology.

Ryanodine receptors are part of the myospryn complex in cardiac muscle

E. Ehler, D. Blake, S. Sweet, 2017, Scientific Reports.

SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

G. Kirov, M. Owen, Danny J. Smith, 2013, Brain : a journal of neurology.

Myoclonus dystonia and muscular dystrophy: ɛ‐sarcoglycan is part of the dystrophin‐associated protein complex in brain

D. Blake, A. Waite, Y. Chan, 2016, Movement disorders : official journal of the Movement Disorder Society.

The chromosome 9 ALS and FTD locus is probably derived from a single founder

M. Nalls, T. Peuralinna, J. Hardy, 2012, Neurobiology of Aging.

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome

M. LeDoux, Yu Zhao, M. Khan, 2017, Neurobiology of Disease.

SGCZ mutations are unlikely to be associated with myoclonus dystonia

F. Baas, M. Tijssen, J. Groen, 2014, Neuroscience.

A gain‐of‐glycosylation mutation associated with myoclonus‐dystonia syndrome affects trafficking and processing of mouse ε‐sarcoglycan in the late secretory pathway

D. Blake, A. Brancaccio, A. Waite, 2011, Human mutation.

C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

B. Traynor, H. Morris, T. Lynch, 2012, Movement disorders : official journal of the Movement Disorder Society.

A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders

T. Révész, J. Rohrer, J. Holton, 2019, Cold Spring Harbor molecular case studies.

Huntingtin Exists as Multiple Splice Forms in Human Brain.

M. Mort, L. Jones, N. Allen, 2015, Journal of Huntington's disease.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, M. Nalls, 2012, The Lancet Neurology.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, G. Schellenberg, 2012, The Lancet Neurology.

Long‐term efficacy and mortality in Parkinson's disease patients treated with subthalamic stimulation

G. K. Røste, E. Dietrichs, V. Gundersen, 2011, Movement disorders : official journal of the Movement Disorder Society.

The neurobiology of the dystrophin-associated glycoprotein complex

D. Blake, A. Waite, C. Tinsley, 2009, Annals of medicine.

Huntingtin Exists as Multiple Splice Forms in Human Brain.

M. Mort, L. Jones, N. Allen, 2015, Journal of Huntington's disease.