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Prevalence of mitochondrial DNA disease in adults

Annals of neurology, 2008-01, Vol.63 (1), p.35-39

2008

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Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

American journal of human genetics, 2014-09, Vol.95 (3), p.332-339

2014

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Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

Human molecular genetics, 2019-07, Vol.28 (14), p.2339-2351

2019

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The role of novel motor unit magnetic resonance imaging to investigate motor unit activity in ageing skeletal muscle

Journal of cachexia, sarcopenia and muscle, 2021-02, Vol.12 (1), p.17-29

2021

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Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome

PloS one, 2017-09, Vol.12 (9), p.e0184817-e0184817

2017

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nonsynaptic mechanism underlying interictal discharges in human epileptic neocortex

Proceedings of the National Academy of Sciences - PNAS, 2010-01, Vol.107 (1), p.338-343

2010

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Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment

Journal of neurology, 2023-06, Vol.270 (6), p.3112-3119

2023

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Non-invasive imaging of single human motor units

Clinical neurophysiology, 2020-06, Vol.131 (6), p.1399-1406

2020

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Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Journal of neurology, 2018-01, Vol.265 (1), p.194-203

2018

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Functional magnetic resonance imaging of human motor unit fasciculation in amyotrophic lateral sclerosis

Annals of neurology, 2019-03, Vol.85 (3), p.455-459

2019

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Whole Muscle and Single Motor Unit Twitch Profiles in a Healthy Adult Cohort Assessed With Phase Contrast Motor Unit MRI (PC‐MUMRI)

Journal of magnetic resonance imaging, 2024-07, Vol.60 (1), p.205-217

2024

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Genetic heterogeneity of motor neuropathies

Neurology, 2017-03, Vol.88 (13), p.1226-1234

2017

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Motor Unit Magnetic Resonance Imaging (MUMRI) In Skeletal Muscle

Journal of magnetic resonance imaging, 2024-01

2024

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Neurophysiological and imaging biomarkers of lower motor neuron dysfunction in motor neuron diseases/amyotrophic lateral sclerosis: IFCN handbook chapter

Clinical neurophysiology, 2024-06, Vol.162, p.91-120

2024

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In vivo 3D imaging of human motor units in upper and lower limb muscles

Clinical neurophysiology, 2022-09, Vol.141, p.91-100

2022

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The muscle twitch profile assessed with motor unit magnetic resonance imaging

NMR in biomedicine, 2021-03, Vol.34 (3), p.e4466-n/a

2021

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Taking Optogenetics into the Human Brain: Opportunities and Challenges in Clinical Trial Design

Open access journal of clinical trials, 2020-01, Vol.12, p.33-41

2020

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Post-Trial Considerations for an Early Phase Optogenetic Trial in the Human Brain

Open access journal of clinical trials, 2022-02, Vol.14, p.1-9

2022

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Whole-body fasciculation detection in amyotrophic lateral sclerosis using motor unit MRI

Clinical neurophysiology, 2024-05, Vol.161, p.246-255

2024

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Forecasting stroke-like episodes and outcomes in mitochondrial disease

Brain (London, England : 1878), 2022-04, Vol.145 (2), p.542-554

2022

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Seizure self-prediction: Myth or missed opportunity?

Seizure (London, England), 2017-10, Vol.51, p.180-185

2017

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Gap junction networks can generate both ripple-like and fast ripple-like oscillations

The European journal of neuroscience, 2014-01, Vol.39 (1), p.46-60

2014

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Epilepsy in adults with mitochondrial disease: A cohort study

Annals of neurology, 2015-12, Vol.78 (6), p.949-957

2015

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Human brain slices for epilepsy research: Pitfalls, solutions and future challenges

Journal of neuroscience methods, 2016-02, Vol.260, p.221-232

2016

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Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

Neurology, 2015-12, Vol.85 (22), p.1964-1971

2015

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Prevalence of mitochondrial DNA disease in adults

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

The role of novel motor unit magnetic resonance imaging to investigate motor unit activity in ageing skeletal muscle

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome

nonsynaptic mechanism underlying interictal discharges in human epileptic neocortex

Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment

Non-invasive imaging of single human motor units

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Functional magnetic resonance imaging of human motor unit fasciculation in amyotrophic lateral sclerosis

Whole Muscle and Single Motor Unit Twitch Profiles in a Healthy Adult Cohort Assessed With Phase Contrast Motor Unit MRI (PC‐MUMRI)

Genetic heterogeneity of motor neuropathies

Motor Unit Magnetic Resonance Imaging (MUMRI) In Skeletal Muscle

Neurophysiological and imaging biomarkers of lower motor neuron dysfunction in motor neuron diseases/amyotrophic lateral sclerosis: IFCN handbook chapter

In vivo 3D imaging of human motor units in upper and lower limb muscles

The muscle twitch profile assessed with motor unit magnetic resonance imaging

Taking Optogenetics into the Human Brain: Opportunities and Challenges in Clinical Trial Design

Post-Trial Considerations for an Early Phase Optogenetic Trial in the Human Brain

Whole-body fasciculation detection in amyotrophic lateral sclerosis using motor unit MRI

Forecasting stroke-like episodes and outcomes in mitochondrial disease

Seizure self-prediction: Myth or missed opportunity?

Gap junction networks can generate both ripple-like and fast ripple-like oscillations

Epilepsy in adults with mitochondrial disease: A cohort study

Human brain slices for epilepsy research: Pitfalls, solutions and future challenges

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

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