Michael H. Parkinson

发表

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

D. Timmann, M. Dafotakis, A. Durr, 2016, The Lancet Neurology.

Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy

Nicholas W. Wood, Albert Ludolph, Gilbert Bensimon, 2009, PloS one.

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

D. Timmann, A. Durr, P. Bauer, 2018, Journal of Neurology.

When the heart rules the head: ischaemic stroke and intracerebral haemorrhage complicating infective endocarditis

D. Werring, David Turner, Michael H. Parkinson, 2017, Practical Neurology.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

F. Bremner, Michael H. Parkinson, 2014 .

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

P. Giunti, F. Bremner, Michael H. Parkinson, 2014 .

Analysis of Friedreich's ataxia patient clinical data reveals importance of accurate GAA repeat determination in disease prognosis and gender differences in cardiac measures

Xiaohui Liu, P. Giunti, A. Payne, 2019, Informatics in Medicine Unlocked.

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

D. Timmann, S. Tezenas du Montcel, A. Durr, 2017, Movement disorders clinical practice.

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations

K. Bhatia, P. Giunti, L. Veneziano, 2022, neurogenetics.

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

R. Pfundt, M. Reilly, P. Giunti, 2018, Brain : a journal of neurology.

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Sarah C. Milne, A. Koeppen, A. Durr, 2022, Orphanet Journal of Rare Diseases.

Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers

C. Lourenço, J. Pedroso, O. Barsottini, 2021, Movement disorders : official journal of the Movement Disorder Society.

Prediction of the disease course in Friedreich ataxia

H. Rauhut, Ulrich Terstiege, A. Durr, 2022, Scientific Reports.

Management of the ataxias : towards best clinical practice

J. Marsden, L. Cipolotti, R. Horvath, 2016 .

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study

V. Libri, L. Huson, R. Festenstein, 2014, The Lancet.

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

Paola Giunti, Javier Arpa, Alexandra Durr, 2015, The Lancet Neurology.

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Paola Giunti, Alexandra Durr, Robyn Labrum, 2015, The Lancet Neurology.

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

P. Lockhart, A. Durr, L. Corben, 2016, Annals of neurology.

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

K. Bhatia, M. Frontali, L. Veneziano, 2014, The Cerebellum.

When the penny drops

Paola Giunti, Nicholas W Wood, N. Wood, 2014, Practical Neurology.

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

I. Faber, C. Lourenço, J. Pedroso, 2019, Parkinsonism & related disorders.

Co‐enzyme Q10 and idebenone use in Friedreich's ataxia

J. Schulz, P. Giunti, Michael H. Parkinson, 2013, Journal of neurochemistry.

Clinical features of Friedreich's ataxia: classical and atypical phenotypes

P. Giunti, W. Nachbauer, S. Boesch, 2013, Journal of neurochemistry.

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

E. Mudanohwo, M. Sweeney, H. Garcia-Moreno, 2021, Frontiers in Neurology.

Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia

D. Timmann, S. Tezenas du Montcel, A. Durr, 2019, Movement Disorders.

Co-enzyme Q 10 and idebenone use in Friedreich ’ s ataxia

P. Giunti, Michael H. Parkinson, B. Schulz, 2013 .

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

E. Bertini, G. Vasco, A. Durr, 2021, The Lancet Neurology.

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

K. Bhatia, P. Giunti, M. Frontali, 2014, The Cerebellum.

Deciphering the impact of cerebellar and basal ganglia dysfunction in accuracy and variability of motor timing

M. Kubovy, M. Jahanshahi, G. Dirnberger, 2013, Neuropsychologia.

Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany

J. Piercy, P. Giunti, J. O’Hara, 2013, Orphanet Journal of Rare Diseases.

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia

M. Pandolfo, P. Giunti, A. Emmanuel, 2017, Orphanet Journal of Rare Diseases.

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.

N. Wood, H. Houlden, P. Giunti, 2020, Brain : a journal of neurology.

Natural history and clinical features of the flail arm and flail leg ALS variants

A. Al-Chalabi, C. Shaw, P. Leigh, 2009, Neurology.

'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'

P. Giunti, M. Pook, I. Hargreaves, 2016, Cell Death and Disease.