Publications by authors named "Mamede de Carvalho"

99Publications

Modulation of neuromuscular transmission using transcutaneous direct currents: An exploratory study.

Neurophysiol Clin 2020 Oct 22;50(5):315-320. Epub 2020 Oct 22.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences, Centro Hospitalar Universitário Lisboa-Norte, Hospital de Santa Maria, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.neucli.2020.10.002DOI Listing
October 2020

Electrodiagnosis of Amyotrophic Lateral Sclerosis: A Review of Existing Guidelines.

J Clin Neurophysiol 2020 Jul;37(4):294-298

*Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; and †Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.

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http://dx.doi.org/10.1097/WNP.0000000000000682DOI Listing
July 2020

Mouth occlusion pressure at 100ms (P0.1) as a respiratory biomarker in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Sep 21:1-8. Epub 2020 Sep 21.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1080/21678421.2020.1821061DOI Listing
September 2020

ALS and fertility: does ALS affect number of children patients have?

Amyotroph Lateral Scler Frontotemporal Degener 2020 Sep 8:1-7. Epub 2020 Sep 8.

Institute of Physiology, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1080/21678421.2020.1813313DOI Listing
September 2020

Clinical characteristics in young-adult ALS - results from a Portuguese cohort study.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Jul 11:1-4. Epub 2020 Jul 11.

Institute of Physiology, Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1080/21678421.2020.1790611DOI Listing
July 2020

Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.

J Neurol 2020 Dec 7;267(12):3578-3592. Epub 2020 Jul 7.

Instituto de Medicina Molecular and Institute of Physiology, Faculdade de Medicina da Universidade de Lisboa, Av. Professor Egas Moniz, 1648-028, Lisbon, Portugal.

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http://dx.doi.org/10.1007/s00415-020-10042-yDOI Listing
December 2020

Needling the future in ALS.

Clin Neurophysiol 2020 Aug 3;131(8):1973-1974. Epub 2020 Jun 3.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Univeridade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2020.05.017DOI Listing
August 2020

Spreading in ALS: The relative impact of upper and lower motor neuron involvement.

Ann Clin Transl Neurol 2020 07 18;7(7):1181-1192. Epub 2020 Jun 18.

Institute of Physiology, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1002/acn3.51098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7359118PMC
July 2020

Motor excitability measurements in early stage familial amyloid polyneuropathy: The influence of tafamidis treatment.

Neurophysiol Clin 2020 Jul 4;50(3):145-153. Epub 2020 Jun 4.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences, Centro Hospitalar Universário Lisboa-Norte, Hospital de Santa Maria, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.neucli.2020.04.003DOI Listing
July 2020

Authors' reply: Differences between South African and Portuguese ALS cohorts from an environmental perspective.

J Neurol Sci 2020 07 21;414:116932. Epub 2020 May 21.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa-Norte, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.jns.2020.116932DOI Listing
July 2020

Measuring spinal presynaptic inhibition in human subjects.

Clin Neurophysiol 2020 Aug 4;131(8):1966-1967. Epub 2020 May 4.

Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.clinph.2020.04.015DOI Listing
August 2020

Respiratory Neurophysiology in Intensive Care Unit.

J Clin Neurophysiol 2020 May;37(3):208-210

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Univeridade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1097/WNP.0000000000000663DOI Listing
May 2020

Critical Illness Neuropathy.

J Clin Neurophysiol 2020 May;37(3):205-207

Departments of Neurosurgery and Neurology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1097/WNP.0000000000000658DOI Listing
May 2020

Intensive Care Unit-Acquired Weakness: Neuropathology.

J Clin Neurophysiol 2020 May;37(3):197-199

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Univeridade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1097/WNP.0000000000000660DOI Listing
May 2020

Intensive Care Unit-Acquired Weakness: Introductory Notes.

J Clin Neurophysiol 2020 05;37(3):195-196

Faculdade de Medicina-Instituto de Medicina Molecular, Universidade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1097/WNP.0000000000000651DOI Listing
May 2020

A comparative study of South African and Portuguese amyotrophic lateral sclerosis cohorts.

J Neurol Sci 2020 Jul 20;414:116857. Epub 2020 Apr 20.

Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2020.116857DOI Listing
July 2020

Laryngeal electromyography in amyotrophic lateral sclerosis.

J Neurol Neurosurg Psychiatry 2020 07 21;91(7):730-732. Epub 2020 Apr 21.

Department of Neurology, School of Medical Sciences, State University of Campinas (UNICAMP), Campinas, Brazil

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http://dx.doi.org/10.1136/jnnp-2020-322910DOI Listing
July 2020

Diaphragmatic CMAP amplitude from phrenic nerve stimulation predicts functional decline in ALS.

J Neurol 2020 Jul 6;267(7):2123-2129. Epub 2020 Apr 6.

Department of Neurosciences and Mental Health, Hospital de Santa Maria-CHLN, Lisbon, Portugal.

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http://dx.doi.org/10.1007/s00415-020-09818-zDOI Listing
July 2020

variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.

Amyotroph Lateral Scler Frontotemporal Degener 2020 05 3;21(3-4):291-295. Epub 2020 Apr 3.

Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa-Norte, Lisbon, Portugal.

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http://dx.doi.org/10.1080/21678421.2020.1746343DOI Listing
May 2020

Investigating LGALS3BP/90 K glycoprotein in the cerebrospinal fluid of patients with neurological diseases.

Sci Rep 2020 03 27;10(1):5649. Epub 2020 Mar 27.

Instituto de Fisiologia, Instituto de Medicina Molecular-Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1038/s41598-020-62592-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7101329PMC
March 2020

Motor unit estimation by MRI: Integrating old and new ideas.

Clin Neurophysiol 2020 Jun 12;131(6):1379-1380. Epub 2020 Mar 12.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Univeridade de Lisboa, Lisbon, Portugal; Departments of Neurology and Neuroscience, Barts and the London School of Medicine, Queen Mary University of London and Royal London Hospital, UK.

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http://dx.doi.org/10.1016/j.clinph.2020.03.002DOI Listing
June 2020

Reliability of phrenic nerve conduction study: In healthy controls and in patients with primary lateral sclerosis.

Clin Neurophysiol 2020 May 3;131(5):994-999. Epub 2020 Mar 3.

Faculdade de Medicina-Instituto de Medicina Molecular, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Centro Hospitalar Universitário Lisboa-Norte, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2020.02.010DOI Listing
May 2020

Family history of neurodegenerative disorders in patients with amyotrophic lateral sclerosis: population-based case-control study.

J Neurol Neurosurg Psychiatry 2020 06 12;91(6):671-672. Epub 2020 Mar 12.

Institute of Physiology, Instituto de Medicina Molecular, Faculdade de Medicine, Universidade de Lisboa, Lisboa, Portugal.

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http://dx.doi.org/10.1136/jnnp-2019-322561DOI Listing
June 2020

Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study.

Orphanet J Rare Dis 2020 03 6;15(1):67. Epub 2020 Mar 6.

Instituto de Medicina Molecular, Av. Prof. Egas Moniz, 1649-028, Lisbon, Portugal.

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http://dx.doi.org/10.1186/s13023-020-1340-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060628PMC
March 2020

Transforming growth factor-β plasma levels and its role in amyotrophic lateral sclerosis.

Med Hypotheses 2020 Jun 14;139:109632. Epub 2020 Feb 14.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Centro Hospitalar Universitário de Lisboa-Norte, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.mehy.2020.109632DOI Listing
June 2020

Immobility and F-waves: Impact on lower motor neuron excitability.

Muscle Nerve 2020 04 11;61(4):480-484. Epub 2020 Feb 11.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Univeridade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1002/mus.26817DOI Listing
April 2020

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.

Case Rep Neurol Med 2019 11;2019:5976410. Epub 2019 Dec 11.

Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.

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http://dx.doi.org/10.1155/2019/5976410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927060PMC
December 2019

Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy.

Amyloid 2020 Jun 19;27(2):89-96. Epub 2019 Dec 19.

Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

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http://dx.doi.org/10.1080/13506129.2019.1701429DOI Listing
June 2020

Prevalence, Incidence, and Clinical-Epidemiological Characterization of Amyotrophic Lateral Sclerosis in Antioquia: Colombia.

Neuroepidemiology 2020 6;54(3):251-257. Epub 2019 Dec 6.

Neuromuscular Diseases Research Group, University of Antioquia, Medellín, Colombia.

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http://dx.doi.org/10.1159/000504549DOI Listing
December 2019

Disease modification in neurodegenerative diseases: Not quite there yet.

Neurology 2020 01 2;94(1):12-13. Epub 2019 Dec 2.

From the Movement Disorders Center (M.R.), Vassar Hospital and Medical Center, Poughkeepsie, NY; and Instituto de Fisiologia (M.d.C.), Instituto de Medicina Molecular, Faculdade de Medicina, Univeridade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1212/WNL.0000000000008690DOI Listing
January 2020

Standards of instrumentation of EMG.

Clin Neurophysiol 2020 01 5;131(1):243-258. Epub 2019 Nov 5.

Department of Clinical Neurophysiology, Aarhus University Hospital & Dept of Clinical Medicine, Aarhus University, Aarhus, Denmark.

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http://dx.doi.org/10.1016/j.clinph.2019.07.025DOI Listing
January 2020

Fasciculations: Opening Pandora's box.

Clin Neurophysiol 2020 01 9;131(1):239-240. Epub 2019 Nov 9.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Univeridade de Lisboa, Lisbon, Portugal; Departments of Neurology and Neuroscience, Barts and the London School of Medicine, Queen Mary University of London and Royal London Hospital, UK.

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http://dx.doi.org/10.1016/j.clinph.2019.10.013DOI Listing
January 2020

Prognostic value of phrenic nerve conduction study in amyotrophic lateral sclerosis: Systematic review and meta-analysis.

Clin Neurophysiol 2020 01 11;131(1):106-113. Epub 2019 Nov 11.

Faculdade de Medicina-Instituto de Medicina Molecular, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Centro Hospitalar Universitário LIsboa-Norte, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2019.10.016DOI Listing
January 2020

Lambert-Eaton Myasthenic Syndrome Plus.

J Clin Neuromuscul Dis 2019 Dec;21(2):119-121

Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal.

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http://dx.doi.org/10.1097/CND.0000000000000260DOI Listing
December 2019

Modulation of sensory nerve fiber excitability by transcutaneous cathodal direct current stimulation.

Neurophysiol Clin 2019 Nov 15;49(5):385-390. Epub 2019 Nov 15.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar de Lisboa Norte, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.neucli.2019.10.001DOI Listing
November 2019

Cervical trans-spinal direct current stimulation: a modelling-experimental approach.

J Neuroeng Rehabil 2019 10 25;16(1):123. Epub 2019 Oct 25.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Avenida Professor Egas Moniz, 1649-028, Lisbon, Portugal.

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http://dx.doi.org/10.1186/s12984-019-0589-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815068PMC
October 2019

Testing electrolyte supplementation for muscle cramp.

Muscle Nerve 2019 11 10;60(5):499-500. Epub 2019 Sep 10.

Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.

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http://dx.doi.org/10.1002/mus.26686DOI Listing
November 2019

The "split-leg" syndrome in ALS: specific or variable?

Amyotroph Lateral Scler Frontotemporal Degener 2019 11 24;20(7-8):615-616. Epub 2019 Jul 24.

Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon , Portugal.

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http://dx.doi.org/10.1080/21678421.2019.1643376DOI Listing
November 2019

The 'neurophysiological index' predicts survival in amyotrophic lateral sclerosis.

Clin Neurophysiol 2019 09 11;130(9):1684-1685. Epub 2019 Jun 11.

Faculdade de Medicina-Instituto de Medicina Molecular, Universidade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.clinph.2019.05.020DOI Listing
September 2019

A 15-minute session of direct current stimulation does not produce lasting changes in axonal excitability.

Neurophysiol Clin 2019 Sep 13;49(4):277-282. Epub 2019 Jun 13.

Institute of Physiology, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitario de Lisboa-Norte, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.neucli.2019.05.067DOI Listing
September 2019

Guide the EMG lines.

Clin Neurophysiol 2019 09 30;130(9):1682-1683. Epub 2019 May 30.

Faculdade de Medicina-Instituto de Medicina Molecular, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Centro Hospitalar Universitário Lisboa-Norte, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2019.05.016DOI Listing
September 2019

The split hand in amyotrophic lateral sclerosis: a possible role for the neuromuscular junction.

Amyotroph Lateral Scler Frontotemporal Degener 2019 08 6;20(5-6):368-375. Epub 2019 May 6.

a Faculty of Medicine, Institute of Physiology Unit, Instituto de Medicina Molecular , Universidade de Lisboa , Lisbon , Portugal.

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http://dx.doi.org/10.1080/21678421.2019.1606245DOI Listing
August 2019

Assessing upper limb function with ALSFRS-R in amyotrophic lateral sclerosis patients.

Amyotroph Lateral Scler Frontotemporal Degener 2019 08 28;20(5-6):445-448. Epub 2019 Apr 28.

a Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine , University of Lisbon , Lisbon , Portugal and.

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http://dx.doi.org/10.1080/21678421.2019.1606243DOI Listing
August 2019

Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum.

J Clin Neurosci 2019 Jun 4;64:8-10. Epub 2019 Apr 4.

Department of Neurosciences and Mental Health, Centro Hospitalar Universitário de Lisboa-Norte, Lisbon, Portugal; Instituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.jocn.2019.03.063DOI Listing
June 2019

SVC Is a Marker of Respiratory Decline Function, Similar to FVC, in Patients With ALS.

Front Neurol 2019 28;10:109. Epub 2019 Feb 28.

Faculdade de Medicina, Instituto de Fisiologia e Instituto de Medicina Molecular, Universidade de Lisboa, Lisbon, Portugal.

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https://www.frontiersin.org/article/10.3389/fneur.2019.00109
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http://dx.doi.org/10.3389/fneur.2019.00109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6403463PMC
February 2019

Diaphragmatic Neurophysiology and Respiratory Markers in ALS.

Front Neurol 2019 21;10:143. Epub 2019 Feb 21.

Instituto de Fisiologia-Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.3389/fneur.2019.00143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393326PMC
February 2019

Sensory modulation of fasciculation discharge frequency.

Muscle Nerve 2019 06 24;59(6):688-693. Epub 2019 Mar 24.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Portugal.

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http://doi.wiley.com/10.1002/mus.26456
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http://dx.doi.org/10.1002/mus.26456DOI Listing
June 2019

Motor unit recruitment in myopathy: The myopathic EMG reconsidered.

J Electromyogr Kinesiol 2019 Apr 19;45:41-45. Epub 2019 Feb 19.

Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Department of Neurology, Royal London Hospital and Barts and the London School of Medicine, QMUL, London, UK.

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http://dx.doi.org/10.1016/j.jelekin.2019.02.005DOI Listing
April 2019

Interleukin-6 and amyotrophic lateral sclerosis.

J Neurol Sci 2019 Mar 16;398:50-53. Epub 2019 Jan 16.

Institute of Physiology and Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria-CHLN, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.01.026DOI Listing
March 2019

Exploring Cerebrospinal Fluid IgG N-Glycosylation as Potential Biomarker for Amyotrophic Lateral Sclerosis.

Mol Neurobiol 2019 Aug 23;56(8):5729-5739. Epub 2019 Jan 23.

Institute of Physiology, Instituto de Medicina Molecular-Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1007/s12035-019-1482-9DOI Listing
August 2019

Non-invasive evaluation of sudomotor function in patients with myasthenia gravis.

Neurophysiol Clin 2019 Feb 13;49(1):81-86. Epub 2018 Dec 13.

Department of Neurosciences and Mental Health, Hospital de Santa Maria-CHLN, avenue Professor-Egas-Moniz, 1648-028 Lisbon, Portugal; IMM and Institute of Physiology, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

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https://linkinghub.elsevier.com/retrieve/pii/S09877053183023
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http://dx.doi.org/10.1016/j.neucli.2018.12.002DOI Listing
February 2019

Concentric or monopolar electrode for jitter determination in orbicularis oculi.

Clin Neurophysiol 2018 12 26;129(12):2552-2556. Epub 2018 Oct 26.

Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2018.09.024DOI Listing
December 2018

Relationships between slow vital capacity and measures of respiratory function on the ALSFRS-R.

Amyotroph Lateral Scler Frontotemporal Degener 2018 11 31;19(7-8):506-512. Epub 2018 Oct 31.

f Cytokinetics, Inc ., South San Francisco , CA , USA.

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http://dx.doi.org/10.1080/21678421.2018.1497658DOI Listing
November 2018

Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy.

Neurology 2018 11 17;91(21):e1999-e2009. Epub 2018 Oct 17.

From the Andrade's Center for Familial Amyloidosis and Department of Neurosciences (T.C.), Hospital de Santo António, Centro Hospitalar do Porto; Instituto de Medicina Molecular (M.I., I.C., M.d.C., J.C.), Laboratório de Farmacologia Clínica e Terapêutica (J.C.), and Centro de Estudos de Medicina Baseada na Evidência (J.C.), Faculdade de Medicina, Universidade de Lisboa; Department of Neurosciences and Mental Health (I.C., M.d.C.), Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal; and Centre for Health Economics (M.S.), University of York, UK.

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http://dx.doi.org/10.1212/WNL.0000000000006543DOI Listing
November 2018

Very late-onset amyotrophic lateral sclerosis in a Portuguese cohort.

Amyotroph Lateral Scler Frontotemporal Degener 2018 11 28;19(7-8):619-622. Epub 2018 Sep 28.

a Institute of Physiology Unit, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa , Lisboa , Portugal.

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http://dx.doi.org/10.1080/21678421.2018.1510010DOI Listing
November 2018

Strong nocebo effect in amyotrophic lateral sclerosis trials might mask conclusions.

Lancet Neurol 2018 10 18;17(10):842. Epub 2018 Sep 18.

Laboratory of Clinical Pharmacology and Therapeutics, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisbon, Portugal; Clinical Pharmacology Lab, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Campus Neurológico Sénior, Torres Vedras, Portugal. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30310-7DOI Listing
October 2018

Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study.

Neuroepidemiology 2018 28;51(3-4):177-182. Epub 2018 Aug 28.

Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

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http://dx.doi.org/10.1159/000490553DOI Listing
September 2019

Neuromodulation of lower limb motor responses with transcutaneous lumbar spinal cord direct current stimulation.

Clin Neurophysiol 2018 09 11;129(9):1999-2009. Epub 2018 Jul 11.

Instituto de Medicina Molecular, Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa, Avenida Professor Egas Moniz, 1649-028 Lisboa, Portugal; Departamento de Neurociências e Saúde Mental, Hospital de Santa Maria - Centro Hospitalar Lisboa Norte, Avenida Professor Egas Moniz, 1649-035 Lisboa, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2018.07.002DOI Listing
September 2018

The impact of spasticity on diaphragm contraction: Electrophysiological assessment.

Clin Neurophysiol 2018 08 26;129(8):1544-1550. Epub 2018 May 26.

Department of Neurosciences and Mental Health, Hospital de Santa Maria-CHLN, Lisbon, Portugal; Institute of Physiology - Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.clinph.2018.05.002DOI Listing
August 2018

Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis.

Neurobiol Aging 2018 10 14;70:325.e7-325.e15. Epub 2018 May 14.

Instituto de Medicina Molecular and Institute of Physiology, Faculdade de Medicina, Universidade de Lisboa, Avenida Professor Egas Moniz, Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria-CHLN, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.05.009DOI Listing
October 2018

Sniff nasal inspiratory pressure (SNIP) in amyotrophic lateral sclerosis: Relevance of the methodology for respiratory function evaluation.

Clin Neurol Neurosurg 2018 08 25;171:42-45. Epub 2018 May 25.

Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria-CHLN, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2018.05.011DOI Listing
August 2018

Motor unit number estimation (MUNE): Where are we now?

Clin Neurophysiol 2018 08 24;129(8):1507-1516. Epub 2018 May 24.

Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Barts and the London School of Medicine, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1016/j.clinph.2018.04.748DOI Listing
August 2018

The Role of Moderate Aerobic Exercise as Determined by Cardiopulmonary Exercise Testing in ALS.

Neurol Res Int 2018 31;2018:8218697. Epub 2018 Jan 31.

Translational and Clinical Physiology Unit, Molecular Medicine Institute, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1155/2018/8218697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832023PMC
January 2018

expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis.

J Neurol Neurosurg Psychiatry 2019 01 16;90(1):118-120. Epub 2018 Apr 16.

Physiology Institute, Faculty of Medicine, Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1136/jnnp-2018-318032DOI Listing
January 2019

Understanding the use of NIV in ALS: results of an international ALS specialist survey.

Amyotroph Lateral Scler Frontotemporal Degener 2018 08 16;19(5-6):331-341. Epub 2018 Apr 16.

k Department of Neurology, Brain Centre Rudolf Magnus , University Medical Centre Utrecht , Utrecht , The Netherlands.

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http://dx.doi.org/10.1080/21678421.2018.1457058DOI Listing
August 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Respiratory measures in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2018 08 23;19(5-6):321-330. Epub 2018 Mar 23.

f Eleanor and Lou Gehrig ALS Center, The Neurological Institute, Columbia University , New York , NY , USA.

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http://dx.doi.org/10.1080/21678421.2018.1452945DOI Listing
August 2018

Beyond fractional anisotropy in amyotrophic lateral sclerosis: the value of mean, axial, and radial diffusivity and its correlation with electrophysiological conductivity changes.

Neuroradiology 2018 May 22;60(5):505-515. Epub 2018 Mar 22.

Institute of Physiology, Institute of Molecular Medicine (IMM), Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1007/s00234-018-2012-6DOI Listing
May 2018

Transcutaneous spinal direct current stimulation of the lumbar and sacral spinal cord: a modelling study.

J Neural Eng 2018 06 9;15(3):036008. Epub 2018 Feb 9.

Instituto de Biofísica e Engenharia Biomédica, Faculdade de Ciências da Universidade de Lisboa, Campo Grande, 1749-016, Lisboa, Portugal. Instituto de Fisiologia, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina da Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal.

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http://dx.doi.org/10.1088/1741-2552/aaac38DOI Listing
June 2018

Tele-monitoring of a home-based exercise program in amyotrophic lateral sclerosis: a feasibility study.

Eur J Phys Rehabil Med 2018 Jun 23;54(3):501-503. Epub 2018 Jan 23.

Institute of Molecular Medicine and Institute of Physiology, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.23736/S1973-9087.18.05129-8DOI Listing
June 2018

Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome.

Clin Neurophysiol 2018 03 4;129(3):558-559. Epub 2018 Jan 4.

Department of Neurosciences and Mental Health, Hospital de Santa Maria Centro Hospitalar Lisboa Norte, Lisbon, Portugal; Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.clinph.2017.12.033DOI Listing
March 2018

Voluntary control of a plegic limb during yawning.

J Neurol 2018 Feb 10;265(2):433-435. Epub 2018 Jan 10.

Department of Neurosciences and Mental Health, Neurology, Stroke Unit, Hospital de Santa Maria, CHLN, Lisbon, Portugal.

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http://dx.doi.org/10.1007/s00415-017-8729-zDOI Listing
February 2018

Fasciculation: Does distance really matter?

Clin Neurophysiol 2018 02 1;129(2):462-463. Epub 2017 Dec 1.

Physiology Institute, Faculty of Medicine - Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13882457173116
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http://dx.doi.org/10.1016/j.clinph.2017.11.021DOI Listing
February 2018

Diaphragm motor responses to phrenic nerve stimulation in ALS: Surface and needle recordings.

Clin Neurophysiol 2018 02 13;129(2):349-353. Epub 2017 Dec 13.

Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Barts and the London School of Medicine, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1016/j.clinph.2017.11.019DOI Listing
February 2018

Health Status Perspectives in Amyotrophic Lateral Sclerosis.

Neurodegener Dis 2017 31;17(6):323-329. Epub 2017 Oct 31.

Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1159/000480638DOI Listing
July 2018

Brain white matter demyelinating lesions and amyotrophic lateral sclerosis in a patient with C9orf72 hexanucleotide repeat expansion.

Mult Scler Relat Disord 2017 Oct 21;17:1-4. Epub 2017 Jun 21.

Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal.

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http://dx.doi.org/10.1016/j.msard.2017.06.010DOI Listing
October 2017

Interplay of upper and lower motor neuron degeneration in amyotrophic lateral sclerosis.

Clin Neurophysiol 2017 11 19;128(11):2200-2204. Epub 2017 Sep 19.

Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Barts and the London School of Medicine, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1016/j.clinph.2017.08.024DOI Listing
November 2017

Cramps and vinpocetine in ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2018 02 21;19(1-2):155-156. Epub 2017 Sep 21.

a Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine , University of Lisbon , Portugal and.

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http://dx.doi.org/10.1080/21678421.2017.1377735DOI Listing
February 2018

Riluzole-induced recurrent pancreatitis.

J Clin Neurosci 2017 Nov 1;45:153-154. Epub 2017 Sep 1.

Department of Neurology, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal; Institute of Physiology, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.jocn.2017.08.032DOI Listing
November 2017

The yin and yang of gastrostomy in the management of ALS: Friend or foe?

Neurology 2017 10 1;89(14):1435-1436. Epub 2017 Sep 1.

From the Physiology Institute (M.d.C.), Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon; Department of Neurosciences and Mental Health (M.d.C.), Hospital de Santa Maria-CHLN, Lisbon, Portugal; and Department of Neurology (C.L.G.), University of South Florida Morsani College of Medicine, Tampa.

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http://dx.doi.org/10.1212/WNL.0000000000004547DOI Listing
October 2017

Prolongation of terminal latency of the phrenic nerve in amyotrophic lateral sclerosis - Is it clinically useful, and what are the mechanisms?

Clin Neurophysiol 2017 10 31;128(10):2094. Epub 2017 Jul 31.

Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria-CHLN, Lisbon, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13882457173089
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http://dx.doi.org/10.1016/j.clinph.2017.07.404DOI Listing
October 2017

Comparison of slow and forced vital capacities on ability to predict survival in ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2017 11 25;18(7-8):528-533. Epub 2017 Jul 25.

a Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine , University of Lisbon , Lisbon , Portugal.

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http://dx.doi.org/10.1080/21678421.2017.1354995DOI Listing
November 2017

Celiac disease and a novel association with a multifocal acquired motor axonopathy (MAMA).

Clin Neurophysiol 2017 09 28;128(9):1596-1598. Epub 2017 Jun 28.

Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Avenida Professor Egas Moniz, 1649-035 Lisbon, Portugal; Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Avenida Professor Egas Moniz, 1649-035 Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2017.06.038DOI Listing
September 2017

International Survey of ALS Experts about Critical Questions for Assessing Patients with ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2017 11 13;18(7-8):505-510. Epub 2017 Jul 13.

a Institute of Physiology, Instituto de Medicina Molecular, Faculty of Medicine , University of Lisbon , Lisbon , Portugal.

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http://dx.doi.org/10.1080/21678421.2017.1349150DOI Listing
November 2017

Fasciculation in amyotrophic lateral sclerosis: origin and pathophysiological relevance.

J Neurol Neurosurg Psychiatry 2017 09 10;88(9):773-779. Epub 2017 May 10.

Institute of Physiology-IMM, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1136/jnnp-2017-315574DOI Listing
September 2017

Young-onset rapidly progressive ALS associated with heterozygous FUS mutation.

Amyotroph Lateral Scler Frontotemporal Degener 2017 08 13;18(5-6):451-453. Epub 2017 Mar 13.

a Instituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa , Lisbon , Portugal and.

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http://dx.doi.org/10.1080/21678421.2017.1299762DOI Listing
August 2017