Search

Your search keyword '"De Carvalho, Mamede"' showing total 1,521 results
Start Over Author "De Carvalho, Mamede"
1,521 results on '"De Carvalho, Mamede"'

101. Genetic variability in sporadic amyotrophic lateral sclerosis

Author

Van Daele, Sien Hilde, primary, Moisse, Matthieu, additional, van Vugt, Joke J F A, additional, Zwamborn, Ramona A J, additional, van der Spek, Rick, additional, van Rheenen, Wouter, additional, Van Eijk, Kristel, additional, Kenna, Kevin, additional, Corcia, Philippe, additional, Vourc'h, Patrick, additional, Couratier, Philippe, additional, Hardiman, Orla, additional, McLaughin, Russell, additional, Gotkine, Marc, additional, Drory, Vivian, additional, Ticozzi, Nicola, additional, Silani, Vincenzo, additional, Ratti, Antonia, additional, de Carvalho, Mamede, additional, Mora Pardina, Jesús S, additional, Povedano, Monica, additional, Andersen, Peter M, additional, Weber, Markus, additional, Başak, Nazli A, additional, Shaw, Chris, additional, Shaw, Pamela J, additional, Morrison, Karen E, additional, Landers, John E, additional, Glass, Jonathan D, additional, van Es, Michael, additional, van den Berg, Leonard H, additional, Al-Chalabi, Ammar, additional, Veldink, Jan, additional, and Van Damme, Philip, additional

Published
2023
Full Text
View/download PDF

111. Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience.

Author

Alves, Inês, Gromicho, Marta, Oliveira Santos, Miguel, Pinto, Susana, Pronto-Laborinho, Ana, Swash, Michael, and de Carvalho, Mamede

Subjects
MOTOR neuron diseases, SPINAL muscular atrophy, AMYOTROPHIC lateral sclerosis, DEMOGRAPHIC change, DELAYED diagnosis
Abstract

Motor Neuron Diseases (MND) have a large clinical spectrum, being the most common amyotrophic lateral sclerosis (ALS) but there is significant clinical heterogeneity. Our goal was to investigate this heterogeneity and any potential changes during a long period. We performed a retrospective cohort study among a large Portuguese cohort of MND patients (n = 1550) and investigated changing patterns in clinical and demographic characteristics over the 27-year period of our database. With that aim, patients were divided into three 9-year groups according to the date of their first visit to our unit: P1, 1994–2002; P2, 2003–2011; P3, 2012–2020. The overall cohort's clinical and demographic characteristics are consistent with clinical experience, but our findings point to gradual changes over time. Time pattern analysis revealed statistically significant differences in the distribution of clinical phenotypes, the average age of onset, diagnostic delay, the proportin of patients using respiratory support with noninvasive ventilation (NIV), time to NIV, and survival. Across time, in the overall cohort, we found an increasing age at onset (p = 0.029), a decrease of two months in diagnostic delay (p < 0.001) and a higher relative frequency of progressive muscular atrophy patients. For ALS patients with spinal onset, from P1 to P2, there was a more widespread (54.8% vs 69.4%, p = 0.005) and earlier (36.9 vs 27.2 months, p = 0.05) use of NIV and a noteworthy 13-month increase in median survival (p = 0.041). Our results probably reflect better comprehensive care, and they are relevant for future studies exploring the impact of new treatments on ALS patients. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

123. Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

Author

Adey, Brett N., primary, Cooper-Knock, Johnathan, additional, Al Khleifat, Ahmad, additional, Fogh, Isabella, additional, van Damme, Philip, additional, Corcia, Philippe, additional, Couratier, Philippe, additional, Hardiman, Orla, additional, McLaughlin, Russell, additional, Gotkine, Marc, additional, Drory, Vivian, additional, Silani, Vincenzo, additional, Ticozzi, Nicola, additional, Veldink, Jan H., additional, van den Berg, Leonard H., additional, de Carvalho, Mamede, additional, Pinto, Susana, additional, Mora Pardina, Jesus S., additional, Povedano Panades, Mónica, additional, Andersen, Peter M., additional, Weber, Markus, additional, Başak, Nazli A., additional, Shaw, Christopher E., additional, Shaw, Pamela J., additional, Morrison, Karen E., additional, Landers, John E., additional, Glass, Jonathan D., additional, Vourc’h, Patrick, additional, Dobson, Richard J. B., additional, Breen, Gerome, additional, Al-Chalabi, Ammar, additional, Jones, Ashley R., additional, and Iacoangeli, Alfredo, additional

Published
2023
Full Text
View/download PDF

137. Skeletal muscle in amyotrophic lateral sclerosis

Author

Shefner, Jeremy M, Musaro, Antonio, Ngo, Shyuan T, Lunetta, Christian, Steyn, Frederik J, Robitaille, Richard, De Carvalho, Mamede, Rutkove, Seward, Ludolph, Albert C, and Dupuis, Luc

Subjects
denervation, neuromuscular junction, energy metabolism, mouse models, ddc:610, neurophysiology
Abstract

Amyotrophic lateral sclerosis (ALS), the major adult-onset motor neuron disease, has been viewed almost exclusively as a disease of upper and lower motor neurons, with muscle changes interpreted as a consequence of the progressive loss of motor neurons and neuromuscular junctions. This has led to the prevailing view that the involvement of muscle in ALS is only secondary to motor neuron loss. Skeletal muscle and motor neurons reciprocally influence their respective development and constitute a single functional unit. In ALS, multiple studies indicate that skeletal muscle dysfunction might contribute to progressive muscle weakness, as well as to the final demise of neuromuscular junctions and motor neurons. Furthermore, skeletal muscle has been shown to participate in disease pathogenesis of several monogenic diseases closely related to ALS. Here, we move the narrative towards a better appreciation of muscle as a contributor of disease in ALS. We review the various potential roles of skeletal muscle cells in ALS, from passive bystanders to active players in ALS pathophysiology. We also compare ALS to other MN diseases and draw perspectives for future research and treatment.

Published
2023

140. Transcranial magnetic stimulation to monitor disease progression in ALS: a review.

Author

De Carvalho, Mamede and Swash, Michael

Subjects
*TRANSCRANIAL magnetic stimulation, *DISEASE progression, *AMYOTROPHIC lateral sclerosis, *EVOKED potentials (Electrophysiology), *MUSCLE diseases
Abstract

Objectives: Transcranial magnetic stimulation (TMS) is a technique to assess motor system function which has been used extensively in amyotrophic lateral sclerosis (ALS). Information on the changes during disease progression is scarce. We aimed to collect this information in a single source. Methods: Literature search tools and personal searching were used to find relevant data. Results: In ALS, 1. Motor threshold tends to increase in hand muscles over disease progression. 2. Central motor conduction time is not a sensitive measurement. 3. Motor evoked potential amplitude decreases, in particular in lower limbs. 4. Primary peak from the peristimulus time histogram (PSTH) reduces in amplitude and synchronicity, but longer duration. 5. Inhibitory responses using PSTH are more pronounced over the disease course. 6. In hand muscles central silent period (CSP) is shorter early in the disease but increases with time. 7. Short inhibitory cortical interval (SICI) is abnormal in the very early disease stage and shows greater abnormality over time. 8. Area and volume in cortical maps of hand muscle decrease markedly with disease progression. Discussion: TMS studies evaluating changes over time in ALS suggest that measuring interneuronal inhibitory dysfunction is a promising method to track progression but motor amplitude and cortical maps should be investigated further. Conclusions: Available TMS studies quantifying central motor dysfunction are insufficient to propose a single physiological measurement for evaluating progression in ALS. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

144. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

Author

Al Khleifat, Ahmad, primary, Iacoangeli, Alfredo, additional, Jones, Ashley R., additional, van Vugt, Joke J. F. A., additional, Moisse, Matthieu, additional, Shatunov, Aleksey, additional, Zwamborn, Ramona A. J., additional, van der Spek, Rick A. A., additional, Cooper-Knock, Johnathan, additional, Topp, Simon, additional, van Rheenen, Wouter, additional, Kenna, Brendan, additional, Van Eijk, Kristel R., additional, Kenna, Kevin, additional, Byrne, Ross, additional, López, Victoria, additional, Opie-Martin, Sarah, additional, Vural, Atay, additional, Campos, Yolanda, additional, Weber, Markus, additional, Smith, Bradley, additional, Fogh, Isabella, additional, Silani, Vincenzo, additional, Morrison, Karen E., additional, Dobson, Richard, additional, van Es, Michael A., additional, McLaughlin, Russell L., additional, Vourc’h, Patrick, additional, Chio, Adriano, additional, Corcia, Philippe, additional, de Carvalho, Mamede, additional, Gotkine, Marc, additional, Panades, Monica Povedano, additional, Mora, Jesus S., additional, Shaw, Pamela J., additional, Landers, John E., additional, Glass, Jonathan D., additional, Shaw, Christopher E., additional, Basak, Nazli, additional, Hardiman, Orla, additional, Robberecht, Wim, additional, Van Damme, Philip, additional, van den Berg, Leonard H., additional, Veldink, Jan H., additional, and Al-Chalabi, Ammar, additional

Published
2022
Full Text
View/download PDF

148. Large-scale Analyses of CAV1 and CAV2 Suggest Their Expression is Higher in Post-mortem ALS Brain Tissue and Affects Survival

Author

Adey, Brett N., primary, Cooper-Knock, Jonathan, additional, Al Khleifat, Ahmad, additional, Fogh, Isabella, additional, van Damme, Philip, additional, Corcia, Philippe, additional, Couratier, Philippe, additional, Hardiman, Orla, additional, McLaughlin, Russell, additional, Gotkine, Marc, additional, Drory, Vivian, additional, Silani, Vincenzo, additional, Ticozzi, Nicola, additional, Veldink, Jan H., additional, van den Berg, Leonard H., additional, de Carvalho, Mamede, additional, Pinto, Susana, additional, Mora Pardina, Jesus S., additional, Povedano, Monica, additional, Andersen, Peter M., additional, Weber, Markus, additional, Basak, Nazli A., additional, Shaw, Chris E., additional, Shaw, Pamela J., additional, Morrison, Karen E., additional, Landers, John E., additional, Glass, Jonathan D., additional, Vourc'h, Patrick, additional, Dobson, Richard JB., additional, Breen, Gerome, additional, Al-Chalabi, Ammar, additional, Jones, Ashley R., additional, and Iacoangeli, Alfredo, additional

Published
2022
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results