Mamede de Carvalho

Mamede de Carvalho

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Mamede de Carvalho

Mamede de Carvalho

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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

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

Amyotroph Lateral Scler Frontotemporal Degener 2019 Nov 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

Testing electrolyte supplementation for muscle cramp.

Muscle Nerve 2019 Nov 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

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

Neurophysiol Clin 2019 Nov 14. Epub 2019 Nov 14.

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 Oct 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

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

Guide the EMG lines.

Clin Neurophysiol 2019 Sep 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

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

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

Clin Neurophysiol 2019 Sep 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

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

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

Amyotroph Lateral Scler Frontotemporal Degener 2019 Aug 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

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

Amyotroph Lateral Scler Frontotemporal Degener 2019 Aug 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

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

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

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

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

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

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

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

J Neurol Neurosurg Psychiatry 2019 Jan 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Physiology of the fasciculation potentials in amyotrophic lateral sclerosis: which motor units fasciculate?

J Physiol Sci 2017 Sep 16;67(5):569-576. Epub 2016 Sep 16.

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

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http://dx.doi.org/10.1007/s12576-016-0484-xDOI Listing
September 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

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

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

Seasons and ALS time of death.

Amyotroph Lateral Scler Frontotemporal Degener 2017 05 10;18(3-4):291-295. Epub 2017 Mar 10.

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

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http://dx.doi.org/10.1080/21678421.2017.1293112DOI Listing
May 2017

The generator site in acquired autoimmune neuromyotonia.

Clin Neurophysiol 2017 Apr 5;128(4):643-646. Epub 2017 Feb 5.

Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Portugal; Department of Neurology, 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.2017.01.018DOI Listing
April 2017

Motor Unit Number Index (MUNIX) detects motor neuron loss in pre-symptomatic muscles in Amyotrophic Lateral Sclerosis.

Clin Neurophysiol 2017 Mar 18;128(3):495-500. Epub 2016 Dec 18.

Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland; Department of Neurology, University Hospital Basel, Basel, Switzerland.

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http://dx.doi.org/10.1016/j.clinph.2016.11.026DOI Listing
March 2017

Phosphoneurofilament heavy chain and vascular endothelial growth factor as cerebrospinal fluid biomarkers for ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2017 02 11;18(1-2):134-136. Epub 2016 Aug 11.

a Instituto de Tecnologia Química e Biológica António Xavier, Universidade Nova de Lisboa , Oeiras , Portugal.

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http://dx.doi.org/10.1080/21678421.2016.1212894DOI Listing
February 2017

Sialorrhoea and reversals in ALS functional rating scale.

J Neurol Neurosurg Psychiatry 2017 02 15;88(2):187-188. Epub 2016 Sep 15.

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

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http://dx.doi.org/10.1136/jnnp-2016-313614DOI Listing
February 2017

Phrenic nerve stimulation is more sensitive than ultrasound measurement of diaphragm thickness in assessing early ALS progression.

Neurophysiol Clin 2017 Feb 15;47(1):69-73. Epub 2016 Oct 15.

Physiology institute, Instituto de Medicina Molecular, 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.neucli.2016.08.001DOI Listing
February 2017

Correlation between Forced Vital Capacity and Slow Vital Capacity for the assessment of respiratory involvement in Amyotrophic Lateral Sclerosis: a prospective study.

Amyotroph Lateral Scler Frontotemporal Degener 2017 Feb 4;18(1-2):86-91. Epub 2016 Dec 4.

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/10.1080/21678421.2016.1249486DOI Listing
February 2017

Epileptic seizures as a presentation of central nervous system involvement in TTR Val30Met-FAP.

J Neurol 2016 Nov 11;263(11):2336-2338. Epub 2016 Oct 11.

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

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http://dx.doi.org/10.1007/s00415-016-8299-5DOI Listing
November 2016

Identification of erythrocyte biomarkers in amyotrophic lateral sclerosis.

Clin Hemorheol Microcirc 2016 Oct;63(4):423-437

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

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http://dx.doi.org/10.3233/CH-162066DOI Listing
October 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

Integrative biomarker discovery in neurodegenerative diseases.

Wiley Interdiscip Rev Syst Biol Med 2015 Nov-Dec;7(6):357-79. Epub 2015 Jul 2.

INESC-ID Lisbon and Instituto Superior Técnico, Universidade de Lisboa, Lisboa, Portugal.

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http://dx.doi.org/10.1002/wsbm.1310DOI Listing
July 2016

Lower motor neuron dysfunction in ALS.

Clin Neurophysiol 2016 07 6;127(7):2670-81. Epub 2016 Apr 6.

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

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http://dx.doi.org/10.1016/j.clinph.2016.03.024DOI Listing
July 2016

New insights into the clinical neurophysiological assessment of ALS.

Neurophysiol Clin 2016 Jun 28;46(3):157-63. Epub 2016 Jun 28.

Department of neurosciences and mental health, neurology, hospital de Santa Maria-CHLN, Lisbon, Portugal; Instituto de medicina molecular, institute of physiology, faculty of medicine, university of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.neucli.2016.05.070DOI Listing
June 2016

The diagnostic accuracy of Sudoscan in transthyretin familial amyloid polyneuropathy.

Clin Neurophysiol 2016 May 27;127(5):2222-7. Epub 2016 Feb 27.

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

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http://dx.doi.org/10.1016/j.clinph.2016.02.013DOI Listing
May 2016

Fasciculation discharge frequency in amyotrophic lateral sclerosis and related disorders.

Clin Neurophysiol 2016 May 27;127(5):2257-62. Epub 2016 Feb 27.

Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Departments of Neurology and Neuroscience, Royal London Hospital, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1016/j.clinph.2016.02.011DOI Listing
May 2016

Integrative biomarker discovery in neurodegenerative diseases.

Wiley Interdiscip Rev Syst Biol Med 2016 05;8(3):268

INESC-ID Lisbon and Instituto Superior Técnico, Universidade de Lisboa, Lisboa, Portugal.

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http://dx.doi.org/10.1002/wsbm.1339DOI Listing
May 2016

Emerging molecular biomarker targets for amyotrophic lateral sclerosis.

Clin Chim Acta 2016 Apr 14;455:7-14. Epub 2016 Jan 14.

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

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http://dx.doi.org/10.1016/j.cca.2016.01.011DOI Listing
April 2016

Modulation of fasciculation frequency in amyotrophic lateral sclerosis.

J Neurol Neurosurg Psychiatry 2016 Feb 23;87(2):226-8. Epub 2015 Jan 23.

Translational Clinical Physiology Unit, Faculty of Medicine, Instituto de Medicina Molecular and Institute of Physiology, University of Lisbon, Lisbon, Portugal Departments of Neurology and Neuroscience, Royal London Hospital, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1136/jnnp-2014-309686DOI Listing
February 2016

Origin of fasciculations in root lesions.

Clin Neurophysiol 2016 Jan 19;127(1):870-873. Epub 2015 Feb 19.

Translational Clinical Physiology Unit, Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Departments of Neurology and Neuroscience, Royal London Hospital, Queen Mary University of London, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S13882457150008
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http://dx.doi.org/10.1016/j.clinph.2015.02.004DOI Listing
January 2016

Ultrasound for assessment of diaphragm in ALS.

Clin Neurophysiol 2016 Jan 25;127(1):892-897. Epub 2015 Apr 25.

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

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https://linkinghub.elsevier.com/retrieve/pii/S13882457150030
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http://dx.doi.org/10.1016/j.clinph.2015.03.024DOI Listing
January 2016

Markers for upper limb dysfunction in Amyotrophic Lateral Sclerosis using analysis of typing activity.

Clin Neurophysiol 2016 Jan 27;127(1):925-931. Epub 2015 Jun 27.

Translational Clinical Physiology Unit, Instituto de Medicina Molecular, Institute of Physiology - Faculty of Medicine, University of Lisbon, Portugal; Department of Neurosciences, Hospital de Santa Maria - CHLN, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.clinph.2015.06.017DOI Listing
January 2016

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2016 Jan 28;37:209.e17-209.e21. Epub 2015 Sep 28.

Montreal Neurological Institute and Hospital, McGill University, Montreal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.09.013DOI Listing
January 2016

Quality of life in amyotrophic lateral sclerosis patients and caregivers: Impact of assistive communication from early stages.

Muscle Nerve 2015 Dec 30;52(6):933-41. Epub 2015 Jun 30.

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

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http://dx.doi.org/10.1002/mus.24659DOI Listing
December 2015

Prognostic models based on patient snapshots and time windows: Predicting disease progression to assisted ventilation in Amyotrophic Lateral Sclerosis.

J Biomed Inform 2015 Dec 8;58:133-144. Epub 2015 Oct 8.

INESC-ID Lisbon and Instituto Superior Técnico, Universidade de Lisboa, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.jbi.2015.09.021DOI Listing
December 2015

Do We Have a Channel Solution for ALS?

EBioMedicine 2015 Dec 3;2(12):1842-3. Epub 2015 Dec 3.

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.ebiom.2015.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703745PMC
December 2015

Tracking motor neuron loss in a set of six muscles in amyotrophic lateral sclerosis using the Motor Unit Number Index (MUNIX): a 15-month longitudinal multicentre trial.

J Neurol Neurosurg Psychiatry 2015 Nov 2;86(11):1172-9. Epub 2015 May 2.

Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St.Gallen, St.Gallen, Switzerland Department of Neurology, University Hospital Basel, Basel, Switzerland.

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http://dx.doi.org/10.1136/jnnp-2015-310509DOI Listing
November 2015

Comment on: The Awaji criteria are not always superior to the previous criteria: A meta-analysis.

Muscle Nerve 2015 Sep 24;52(3):467-8. Epub 2015 Jul 24.

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

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http://dx.doi.org/10.1002/mus.24734DOI Listing
September 2015

Axial myoclonus after ischemic stroke.

Neurology 2015 Aug;85(7):654

From the Department of Neurology, Hospital de Santa Maria, Lisbon, Portugal.

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http://dx.doi.org/10.1212/WNL.0000000000001858DOI Listing
August 2015

Tackling diagnostic delays in ALS.

Lancet Neurol 2015 May 3;14(5):457-8. Epub 2015 Apr 3.

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

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http://dx.doi.org/10.1016/S1474-4422(15)00020-4DOI Listing
May 2015

Ensuring continued progress in biomarkers for amyotrophic lateral sclerosis: another view.

Muscle Nerve 2015 Mar 16;51(3):460-1. Epub 2015 Jan 16.

Translational Clinical Physiology Unit, Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Department of Neurosciences, Hospital de Santa Maria, Lisbon, Portugal.

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http://doi.wiley.com/10.1002/mus.24517
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http://dx.doi.org/10.1002/mus.24517DOI Listing
March 2015

Motoneuron firing in amyotrophic lateral sclerosis (ALS).

Front Hum Neurosci 2014 22;8:719. Epub 2014 Sep 22.

Institute of Physiology and Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon Lisbon, Portugal ; Department of Neurosciences, Hospital Santa Maria, Faculty of Medicine, University of Lisbon Lisbon, Portugal ; Institute of Neuroscience, Barts and The London School of Medicine, Queen Mary University of London London, UK.

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http://dx.doi.org/10.3389/fnhum.2014.00719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170108PMC
October 2014