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List of works by Mamede de Carvalho

A 3-month-old baby with H1N1 and Guillain-Barré syndrome.

scientific article

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

A case of asymptomatic cytoplasmic body myopathy revealed by sinvastatin

scientific article

A handful of promises

scientific article published on 21 September 2013

A prospective multicentre study on sural nerve action potentials in ALS

scientific article published on 04 March 2008

A randomized, placebo-controlled trial of memantine for functional disability in amyotrophic lateral sclerosis

scientific article published in October 2010

Abnormal transcranial magnetic stimulation in a patient with presumed psychogenic paralysis.

scientific article published in December 2008

Abrupt onset of progressive muscular atrophy

scientific article

Accessory nerve stimulation: motor response of the sternocleidomastoid muscle

scientific article

Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation

scientific article published on 01 November 2010

Allgrove syndrome in adulthood

Amyotrophic lateral sclerosis patients and ocular ptosis

scientific article published on 24 October 2007

Amyotrophic lateral sclerosis: an update

scientific article published on October 2011

An error of self-diagnosis--but what was the real diagnosis?

scientific article published on 01 October 2009

Associated movement disorders in orthostatic tremor.

scientific article published on 10 May 2012

Association of paraspinal and diaphragm denervation in ALS

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

scientific article

Awaji criteria for the diagnosis of amyotrophic lateral sclerosis:a systematic review

scientific article

Awaji criteria improves the diagnostic sensitivity in amyotrophic lateral sclerosis: A systematic review using individual patient data

scientific article

Awaji diagnostic algorithm increases sensitivity of El Escorial criteria for ALS diagnosis

scientific article published on February 2009

Axial myoclonus after ischemic stroke

Botulinum toxin type-B improves sialorrhea and quality of life in bulbaronset amyotrophic lateral sclerosis

scientific article published on 19 February 2008

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

scientific article published on 21 June 2017

Breathing new life into treatment advances for respiratory failure in amyotrophic lateral sclerosis patients

scientific article published on January 2014

Can Selection of Rapidly Progressing Patients Shorten Clinical Trials in Amyotrophic Lateral Sclerosis?

Can inspiratory muscle training increase survival in early-affected amyotrophic lateral sclerosis patients?

scientific article published on 4 October 2012

Cavity filling mutations at the thyroxine-binding site dramatically increase transthyretin stability and prevent its aggregation

scientific article published on 24 March 2017

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

scientific article

Cervical muscle weakness is a marker of respiratory dysfunction in amyotrophic lateral sclerosis

scientific article published on 06 November 2019

Changes of the phrenic nerve motor response in amyotrophic lateral sclerosis: Longitudinal study

scientific article published on 14 October 2009

Clinical and neurophysiological evaluation of progression in amyotrophic lateral sclerosis

scientific article published on November 2003

Clinical and therapeutic implications of presymptomatic gene testing for familial amyloidotic polyneuropathy (FAP).

scientific article published on August 2003

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

scientific article published on 11 July 2020

Clinical patterns in progressive muscular atrophy (PMA): a prospective study

article published in 2007

Clinical trials in ALS: a review of the role of clinical and neurophysiological measurements

scientific article

Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy

scientific article published on 20 April 2012

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

scientific article

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

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

scientific article

Compound Muscle Action Potential: Pro

Concentric or monopolar electrode for jitter determination in orbicularis oculi

scientific article published on 26 October 2018

Controversies and priorities in amyotrophic lateral sclerosis

scientific article

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

scientific article published on 4 December 2016

Cramps and vinpocetine in ALS.

scientific article

Decreased heart rate variability predicts death in amyotrophic lateral sclerosis

scientific article published in September 2012

Delayed diagnosis in ALS: the problem continues

scientific article published on 12 June 2014

Diagnosis, Pathogenesis and Therapeutic Targets in Amyotrophic Lateral Sclerosis ⬇️

scientific article published on December 1, 2010

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

scientific article published on 13 December 2017

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

scientific article published on 06 April 2020

Do We Have a Channel Solution for ALS?

scientific article published on 3 December 2015

Does Awaji decrease diagnostic yield in ALS? ⬇️

scientific article published on July 1, 2012

Does surgery accelerate progression of amyotrophic lateral sclerosis? ⬇️

scientific article published on August 6, 2013

Does the motor cortex influence denervation in ALS? EMG studies of muscles with both contralateral and bilateral corticospinal innervation ⬇️

scientific article published on September 6, 2010

Dropped head presentation in ALS ⬇️

scientific article published on January 8, 2013

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

scientific article published on 14 September 2011

Economic cost of home-telemonitoring care for BiPAP-assisted ALS individuals

scientific article published on 8 August 2012

Electrodiagnostic criteria for diagnosis of ALS.

scientific article published on 27 December 2007

Electrophysiological studies in healthy subjects involving caffeine.

scientific article published on January 2010

Emerging molecular biomarker targets for amyotrophic lateral sclerosis

scientific article

Epidemiology of transthyretin familial amyloid polyneuropathy in Portugal

scientific article published on 2 November 2015

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

scientific article published on 11 October 2016

Erythropoietin and amyotrophic lateral sclerosis: Plasma level determination

scientific article published on 04 July 2011

Estimating the value of estimation ⬇️

scientific article published on April 18, 2012

Evidence for central abnormality in respiratory control in primary lateral sclerosis

scientific article published in March 2006

Evidence-based guidelines on the therapeutic use of repetitive transcranial magnetic stimulation (rTMS).

scientific article

Exercise and amyotrophic lateral sclerosis ⬇️

scientific article published on 07 January 2012

F-Waves and the corticospinal lesion in amyotrophic lateral sclerosis

scientific article

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

scientific article published on 12 March 2020

Fasciculation discharge frequency in amyotrophic lateral sclerosis and related disorders

scientific article published on 27 February 2016

Fasciculation in amyotrophic lateral sclerosis: origin and pathophysiological relevance

scientific article published on 10 May 2017

Fasciculation potentials and earliest changes in motor unit physiology in ALS ⬇️

scientific article published on February 16, 2013

Fasciculation potentials: Still mysterious

Fasciculation-cramp syndrome preceding anterior horn cell disease: an intermediate syndrome?

scientific article published on 28 June 2010

Fasciculation: Does distance really matter?

scientific article published in December 2017

Finite element studies of the mechanical behaviour of the diaphragm in normal and pathological cases.

scientific article published in June 2011

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

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

scientific article published on 25 July 2016

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

scientific article

Health Status Perspectives in Amyotrophic Lateral Sclerosis

scientific article published on 31 October 2017

Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients

scientific article published on 10 July 2018

Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies

scientific article published in December 2004

Home telemonitoring of non-invasive ventilation decreases healthcare utilisation in a prospective controlled trial of patients with amyotrophic lateral sclerosis

article

Hot-spot KIF5A mutations cause familial ALS

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

scientific article published on 11 February 2020

Implementation of a wireless device for real-time telemedical assistance of home-ventilated amyotrophic lateral sclerosis patients: a feasibility study

scientific article

Influence of medical audit on electrodiagnostic evaluation of polyneuropathy. A multicentre study

scientific article

Influence of peer review medical audit on pathophysiological interpretation of nerve conduction studies in polyneuropathies

scientific article

Integrative biomarker discovery in neurodegenerative diseases

scientific article published on 02 July 2015

Integrative biomarker discovery in neurodegenerative diseases

scientific article

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

scientific article published on 19 September 2017

Is a four-hour use of non-invasive ventilation enough to define compliance?

Is it better than it seems or just good enough? The tafamidis saga

scientific article published on 05 October 2012

July 2017 ENCALS statement on edaravone

scientific article

Laryngeal electromyography in amyotrophic lateral sclerosis

scientific article published on 21 April 2020

Learning prognostic models using a mixture of biclustering and triclustering: Predicting the need for non-invasive ventilation in Amyotrophic Lateral Sclerosis

scientific article published in 2022

Lesion of the deep palmar branch of the ulnar nerve: causes and clinical outcome

scientific article published on 17 February 2010

Lithium treatment in amyotrophic lateral sclerosis: do we have enough trials? ⬇️

scientific article published on December 1, 2011

Long-term survival in a patient with amyotrophic lateral sclerosis and respiratory presentation

Lower motor neuron dysfunction in ALS.

scientific article published on 6 April 2016

Machado-Joseph disease presenting as motor neuron disease

Modulation of fasciculation frequency in amyotrophic lateral sclerosis

scientific article

Monomelic neurogenic syndromes: A prospective study

Motoneuron firing in amyotrophic lateral sclerosis (ALS)

scientific article

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

scientific article published on 18 December 2016

Motor responses evoked by transcranial magnetic stimulation and peripheral nerve stimulation in the ulnar innervation in amyotrophic lateral sclerosis: the effect of upper and lower motor neuron lesion

scientific article published in June 2003

Motor responses of the sternocleidomastoid muscle in patients with amyotrophic lateral sclerosis

article

Motor unit changes in thoracic paraspinal muscles in amyotrophic lateral sclerosis

Motor unit firing in amyotrophic lateral sclerosis and other upper and lower motor neurone disorders

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

scientific article published on 24 May 2018

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

scientific article published on 21 September 2020

Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

article

Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis

Muscular cramp: causes and management

scientific article published on 19 September 2018

Myasthenia gravis and respiratory failure related to phrenic nerve lesion

scientific article published on 01 October 2008

Nerve excitabitability and fasciculations

scientific article published in May 2013

Neurologic complications of craniovertebral dislocation

scientific article published in January 2014

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

scientific article published on 4 January 2018

Neurophysiological markers in familial amyloid polyneuropathy patients: early changes

scientific article published on 04 March 2008

Neurophysiological measures in amyotrophic lateral sclerosis: markers of progression in clinical trials

scientific article

Neurophysiological techniques to detect early small-fiber dysfunction in transthyretin amyloid polyneuropathy.

scientific article

New insights into the clinical neurophysiological assessment of ALS.

scientific article published on 27 June 2016

No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland

scientific article

Nocturnal pulse oximetry: a new approach to establish the appropriate time for non‐invasive ventilation in ALS patients ⬇️

scientific article published on April 1, 2003

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

scientific article published on 13 December 2018

Occasional essay: Upper motor neuron syndrome in amyotrophic lateral sclerosis

scientific article published on 01 March 2020

Origin of fasciculations in amyotrophic lateral sclerosis and benign fasciculation syndrome

scientific article published in December 2013

Orofacial apraxia in motor neuron disease

scientific article published on January 2013

Pain and calf hypertrophy associated with spontaneous repetitive discharges treated with botulinum toxin

scientific article

Paralytic shellfish poisoning due to ingestion of Gymnodinium catenatum contaminated cockles--application of the AOAC HPLC official method

scientific article published in February 2012

Paraspinal and limb motor neuron involvement within homologous spinal segments in ALS

Pathophysiological significance of fasciculations in the early diagnosis of ALS

scientific article published on 01 March 2000

Pathophysiology inferred from electrodiagnostic nerve tests and classification of polyneuropathies. Suggested guidelines

scientific article

Patrikios syndrome in two patients with treatable flail-leg weakness

Percutaneous nocturnal oximetry in amyotrophic lateral sclerosis: periodic desaturation

scientific article published in June 2009

Peripheral neuropathy in ALS: phenotype association

scientific article published on 28 December 2020

Phosphoneurofilament heavy chain and N-glycomics from the cerebrospinal fluid in amyotrophic lateral sclerosis

scientific article published on 28 September 2014

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

scientific article published on 14 October 2016

Phrenic nerve studies predict survival in amyotrophic lateral sclerosis

scientific article published on 03 July 2012

Plasma level of club-cell (CC-16) predicts outcome in amyotrophic lateral sclerosis.

scientific article

Predicting respiratory insufficiency in amyotrophic lateral sclerosis: the role of phrenic nerve studies

scientific article published in April 2009

Primary lateral sclerosis: Predicting functional outcome

Prognosis of phrenic nerve injury following thoracic interventions: four new cases and a review

scientific article published on 04 January 2012

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

scientific article published on 6 October 2015

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

scientific article published on 31 July 2017

Proteomic analysis of plasma from Portuguese patients with familial amyotrophic lateral sclerosis

scientific article

Pseudobulbar syndrome in two patients with human immunodeficiency virus infection

scientific article published in January 2010

Quality Control of Motor Unit Number Index (MUNIX) Measurements in 6 Muscles in a Single-Subject "Round-Robin" Setup

scientific article

Randomised controlled trial in non-invasive ventilation: what trial?

scientific article published in December 2004

Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation

scientific article

Reconsidering the causality of TIA1 mutations in ALS.

scientific article published on 13 December 2017

Reduced myocardial 123-iodine metaiodobenzylguanidine uptake: a prognostic marker in familial amyloid polyneuropathy.

scientific article published on 5 July 2013

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 28 September 2015

Reply

scientific article published on 03 March 2013

Respiratory apraxia in amyotrophic lateral sclerosis

scientific article published in June 2007

Respiratory exercise in amyotrophic lateral sclerosis ⬇️

article by Susana Pinto et al published January 2012 in Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

Respiratory measures in amyotrophic lateral sclerosis

scientific article published on 23 March 2018

Riluzole-induced recurrent pancreatitis

scientific article published on 31 August 2017

Roles of vascular endothelial growth factor in amyotrophic lateral sclerosis

scientific article

Sensitivity of MUP parameters in detecting change in early ALS.

scientific article

Sensitivity of electrophysiological tests for upper and lower motor neuron dysfunction in ALS: A six-month longitudinal study

article by Mamede de Carvalho & Michael Swash published 2009 in Muscle and Nerve

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study

scientific article published on 12 December 2016

Sialorrhoea and reversals in ALS functional rating scale

scientific article published on 15 September 2016

Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy

scientific article published on 19 December 2019

Split-hand to diagnosis shot ⬇️

scientific article published on September 20, 2012

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

scientific article published on 18 June 2020

Steroid-responsive demyelinating motor neuropathy with conduction block associated with hepatitis C infection and treatment with interferon alpha

scientific article published in December 2006

Stratifying disease stages with different progression rates determined by electrophysiological tests in patients with amyotrophic lateral sclerosis

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

scientific article published on 28 January 2022

Symmetry of phrenic nerve motor response in amyotrophic lateral sclerosis ⬇️

scientific article published on 01 November 2010

Sympathetic sudomotor function and amyotrophic lateral sclerosis

scientific article

Tackling diagnostic delays in ALS.

scientific article published on 3 April 2015

Testing upper motor neuron function in amyotrophic lateral sclerosis: the most difficult task of neurophysiology ⬇️

scientific article published on September 1, 2012

The Awaji criteria for diagnosis of ALS

article

The EMG needle goes deeper in ALS ⬇️

scientific article published on November 12, 2010

The Neurophysiological Index in ALS.

scientific article

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The R of ALSFRS-R: does it really mirror functional respiratory involvement in amyotrophic lateral sclerosis?

scientific article published on 10 September 2014

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

scientific article

The corticomotor threshold is not dependent on disease duration in amyotrophic lateral sclerosis (ALS).

scientific article

The diagnostic accuracy of Sudoscan in TTR-FAP.

scientific article published on 2 November 2015

The effect of SMN gene dosage on ALS risk and disease severity

scientific article published on 02 January 2021

The generator site in acquired autoimmune neuromyotonia

scientific article published on 5 February 2017

The onset of ALS? ⬇️

scientific article published on July 31, 2010

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

scientific article

Transcranial magnetic stimulation: summary

scientific article published in January 2002

Transthyretin familial amyloid polyneuropathy impact on health-related quality of life

scientific article published on 2 November 2015

Ultrasound for assessment of diaphragm in ALS.

scientific article published on 25 April 2015

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

scientific article published on 16 April 2018

VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease

scientific article published on 03 April 2020

Variation in the neurophysiological examination of amyotrophic lateral sclerosis in Europe

scientific article published on 01 October 2010

Vascular endothelial growth factor and amyotrophic lateral sclerosis: the interplay with exercise and noninvasive ventilation

scientific article published in April 2014

Ventilation in ALS

Voluntary control of a plegic limb during yawning

scientific article published on 10 January 2018

What Is Really New in Progressive Muscle Atrophy?

scientific article published on 01 November 2009

What is the relevance of percutaneous endoscopic gastrostomy on the survival of patients with amyotrophic lateral sclerosis?

scientific article published on 18 June 2012

Why is ALS so excited? ⬇️

scientific article published on 05 March 2011

Young slow-progressing ALS patients are at higher risk of inappropriate and disease-quickening surgeries

article published in 2014

Young-onset sporadic amyotrophic lateral sclerosis: a distinct nosological entity?

scientific article published on 07 August 2007

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