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- Publications
- Influence
EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force
- P. Andersen, S. Abrahams, +12 authors M. Weber
- Medicine
- European journal of neurology
- 1 March 2012
Background: The evidence base for the diagnosis and management of amyotrophic lateral sclerosis (ALS) is weak.
Clinical and genetic characterization of families with triple A (Allgrove) syndrome.
- H. Houlden, S. Smith, +4 authors M. Reilly
- Biology, Computer Science
- Brain : a journal of neurology
- 1 August 2002
TLDR
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.
- Teresa Lee, Y. Li, +11 authors A. Gitler
- Biology, Medicine
- Human molecular genetics
- 1 May 2011
Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease primarily affecting motor neurons. We recently identified intermediate-length polyglutamine (polyQ) expansions… Expand
Awaji criteria for the diagnosis of amyotrophic lateral sclerosis:a systematic review.
- J. Costa, M. Swash, M. de Carvalho
- Medicine
- Archives of neurology
- 1 November 2012
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 gold… Expand
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
- W. van Rheenen, A. Shatunov, +174 authors J. Veldink
- Biology, Medicine
- Nature Genetics
- 1 September 2016
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 ALS… Expand
Generalised sensory system abnormalities in amyotrophic lateral sclerosis: a European multicentre study
- K. Pugdahl, A. Fuglsang-Frederiksen, +6 authors I. Schofield
- Medicine
- Journal of Neurology, Neurosurgery & Psychiatry
- 18 December 2006
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 the… Expand
A new method for reproducible coil positioning in transcranial magnetic stimulation mapping.
- P. C. Miranda, M. de Carvalho, I. Conceição, M. L. Luis, E. Ducla-Soares
- Physics, Medicine
- Electroencephalography and clinical…
- 1 April 1997
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. The… Expand
Fasciculation potentials and earliest changes in motor unit physiology in ALS
- M. de Carvalho, M. Swash
- Medicine
- Journal of Neurology, Neurosurgery & Psychiatry
- 16 February 2013
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 of… Expand
Home telemonitoring of non-invasive ventilation decreases healthcare utilisation in a prospective controlled trial of patients with amyotrophic lateral sclerosis
- A. Pinto, J. Almeida, Susana Pinto, João Pereira, A. Oliveira, M. de Carvalho
- Medicine
- Journal of Neurology, Neurosurgery & Psychiatry
- 8 September 2010
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 adaptation… Expand