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EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force
Background:  The evidence base for the diagnosis and management of amyotrophic lateral sclerosis (ALS) is weak.
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Clinical and genetic characterization of families with triple A (Allgrove) syndrome.
We have identified 20 families with between two and four of the clinical features associated with the triple A syndrome. Expand
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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.
Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease primarily affecting motor neurons. We recently identified intermediate-length polyglutamine (polyQ) expansionsExpand
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Awaji criteria for the diagnosis of amyotrophic lateral sclerosis:a systematic review.
OBJECTIVE To estimate the potential diagnostic added value of the Awaji criteria for diagnosis of a myotrophiclateral sclerosis (ALS), which have been compared with the previously accepted goldExpand
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALSExpand
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Generalised sensory system abnormalities in amyotrophic lateral sclerosis: a European multicentre study
Background: Amyotrophic lateral sclerosis (ALS) is defined as a disease of the motor neurones, although several studies indicate involvement of the sensory nervous system. Aim: To evaluate theExpand
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A new method for reproducible coil positioning in transcranial magnetic stimulation mapping.
A new method is presented for mapping the motor cortex by transcranial magnetic stimulation in which the position of the stimulation coil on the scalp is measured using a 3D digitizer. TheExpand
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Fasciculation potentials and earliest changes in motor unit physiology in ALS
Background There is little information on the earliest changes in motor unit (MU) physiology in amyotrophic lateral sclerosis (ALS) and the development of the classical neurophysiological features ofExpand
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Home telemonitoring of non-invasive ventilation decreases healthcare utilisation in a prospective controlled trial of patients with amyotrophic lateral sclerosis
Background Non-invasive ventilation (NIV) is an efficient method for treating respiratory failure in patients with amyotrophic lateral sclerosis (ALS). However, it requires a process of adaptationExpand
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