| Journal article |
- Jordi W.J. van Unnik; Leslie Ing; Miguel Oliveira Santos; Christopher J. McDermott; Mamede de Carvalho; Ruben P.A. van Eijk.
"Remote Monitoring of Amyotrophic Lateral Sclerosis Using Digital Health Technologies". Neurology (2025): https://doi.org/10.1212/WNL.0000000000213738.
10.1212/WNL.0000000000213738
- Miguel Oliveira Santos; Sara Domingues; Sara Simão; Marta Gromicho; Inês Alves; Mamede de Carvalho. "The Role of Gastrostomy
and Noninvasive Ventilation in Primary Lateral Sclerosis". Muscle & Nerve (2025): https://doi.org/10.1002/mus.28346.
10.1002/mus.28346
- Miguel Oliveira Santos; Susana Pinto; Fernando Silveira; Marta Gromicho; Inês Alves; José Castro; Isabel Castro; Mamede de
Carvalho. "Amyotrophic Lateral Sclerosis Associated With Severe Sensory Neuronopathy: Case Series". Journal of Clinical
Neuromuscular Disease (2025): https://doi.org/10.1097/CND.0000000000000520.
10.1097/CND.0000000000000520
- Sara Simão; Lucas L Naumann; Mamede de Carvalho; Miguel Oliveira Santos; Isabel Pavão Martins. "Adaptation and Validation
of Version B of the Edinburgh Cognitive and Behavioural ALS Screen for the Portuguese Population". Archives of Clinical
Neuropsychology (2024): https://doi.org/10.1093/arclin/acae118.
10.1093/arclin/acae118
- Inês Alves; Marta Gromicho; Miguel Oliveira Santos; Susana Pinto; Mamede de Carvalho. "Assessing disease progression in ALS:
prognostic subgroups and outliers". Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2024): https://doi.org/10.1080/21678421.2024.2407412.
10.1080/21678421.2024.2407412
- Sara Simão; Miguel Oliveira Santos; Marta Gromicho; Isabel Pavão Martins; Mamede De Carvalho. "Cognitive reserve as a modulator
of cognitive decline and of behavioral symptoms in patients with amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis
and Frontotemporal Degeneration (2024): https://doi.org/10.1080/21678421.2024.2385684.
10.1080/21678421.2024.2385684
- Cláudia Santos Silva; Catarina Correia Rodrigues; Maria Fortuna Baptista; Miguel Oliveira Santos; Marta Gromicho; Vanessa
Carvalho; Leonor Correia Guedes; Mamede de Carvalho. "Upper motor neuron signs in primary lateral sclerosis and hereditary
spastic paraplegia". Muscle & Nerve (2024): https://doi.org/10.1002/mus.28100.
10.1002/mus.28100
- João Pedro Correia; Marta Gromicho; Ana Catarina Pronto-Laborinho; Miguel Oliveira Santos; Mamede de Carvalho. "Creatine Kinase
and Respiratory Decline in Amyotrophic Lateral Sclerosis". Brain Sciences (2024): https://doi.org/10.3390/brainsci14070661.
10.3390/brainsci14070661
- Oliveira Santos, Miguel; de Carvalho, Mamede. "Profiling tofersen as a treatment of superoxide dismutase 1 amyotrophic lateral
sclerosis". Expert Review of Neurotherapeutics 24 6 (2024): 549-553. http://dx.doi.org/10.1080/14737175.2024.2355983.
10.1080/14737175.2024.2355983
- Oliveira Santos, Miguel; Domingues, Sara; de Campos, Catarina Falcão; Moreira, Susana; de Carvalho, Mamede. "Diaphragm weakness
in late-onset Pompe disease: A complex interplay between lower motor neuron and muscle fibre degeneration". Journal of
the Neurological Sciences 460 (2024): 123021. http://dx.doi.org/10.1016/j.jns.2024.123021.
10.1016/j.jns.2024.123021
- Catarina Serrão; Sara Domingues; Catarina Falcão de Campos; Susana Moreira; Isabel Conceição; Mamede de Carvalho; Miguel Oliveira
Santos. "Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function".
Neurological Sciences (2024): https://doi.org/10.1007/s10072-024-07515-7.
10.1007/s10072-024-07515-7
- José Castro; Miguel Oliveira Santos; Michael Swash; Mamede de Carvalho. "Segmental motor neuron dysfunction in amyotrophic
lateral sclerosis: Insights from H reflex paradigms". Muscle & Nerve (2024): https://doi.org/10.1002/mus.28035.
10.1002/mus.28035
- Susana Pinto; Miguel Oliveira Santos; Marta Gromicho; Michael Swash; Mamede de Carvalho. "Impact of diabetes mellitus on the
respiratory function of amyotrophic lateral sclerosis patients". European Journal of Neurology (2024): https://doi.org/10.1111/ene.16129.
10.1111/ene.16129
- Vítor, Joana; Moniz Dionísio, Joana; Campos, Catarina; Oliveira Santos, Miguel; Cruz, Simão; Castelo, Juliana; Castro, José;
et al. "The Incidence of Guillain-Barré Syndrome during COVID-19 Pandemic: A Portuguese Multicentric Retrospective Study".
Sinapse 23 4 (2024): 182-187. https://doi.org/10.46531/sinapse/ao/230055/2023.
10.46531/sinapse/ao/230055/2023
- Maria Eduarda Cardoso Tortorella; Inês Alves; Marta Gromicho; Miguel Oliveira Santos; Mamede de Carvalho. "Proton pump inhibitors
and amyotrophic lateral sclerosis: A case-control study". Journal of the Neurological Sciences (2024): 122895.
10.1016/j.jns.2024.122895
- Miguel, Oliveira Santos; Michael, Swash; Mamede, de Carvalho. "Current challenges in primary lateral sclerosis diagnosis".
Expert Review of Neurotherapeutics 24 (2023): 45-53.
10.1080/14737175.2023.2295010
- Maria João Malaquias; Luis Braz; Cláudia Santos Silva; Joana Damásio; André Jorge; João M. Lemos; Catarina F. Campos; et al.
"Multisystemic RFC1 -Related Disorder". Neurology Clinical Practice (2023): https://doi.org/10.1212/CPJ.0000000000200190.
10.1212/CPJ.0000000000200190
- Marta Gromicho; Miguel Oliveira Santos; Susana Pinto; Michael Swash; Mamede De Carvalho. "The flail-arm syndrome: the influence
of phenotypic features". Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2023): https://doi.org/10.1080/21678421.2022.2164205.
10.1080/21678421.2022.2164205
- D.M. Sørensen; H. Bostock; A. Abrahao; A. Alaamel; H.C. Alaydin; M. Ballegaard; E. Boran; et al. "Repeatability study on three
muscles at 15 centres". Clinical Neurophysiology 151 (2023): 92-99.
10.1016/j.clinph.2023.04.008
- Alves, Inês; Gromicho, Marta; Oliveira Santos, Miguel; Pinto, Susana; Pronto-Laborinho, Ana; Swash, Michael; de Carvalho,
Mamede. "Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience". Amyotrophic Lateral
Sclerosis and Frontotemporal Degeneration 24 7-8 (2023): 614-624. http://dx.doi.org/10.1080/21678421.2023.2220747.
10.1080/21678421.2023.2220747
- Pinto, Susana; Oliveira Santos, Miguel; Gromicho, Marta; Swash, Michael; de Carvalho, Mamede; Oliveira Santos, Miguel; Carvalho,
Mamede. "Respiratory phenotypes in amyotrophic lateral sclerosis as determined by respiratory questions on the Amyotrophic
Lateral Sclerosis Functional Rating Scale–Revised and their relation to respiratory tests". European Journal of Neurology
30 6 (2023): 1594-1599. http://dx.doi.org/10.1111/ene.15765.
10.1111/ene.15765
- Oliveira Santos, Miguel; Gromicho, Marta; Pronto-Laborinho, Ana; de Carvalho, Mamede. "Sporadic Spinal-Onset Amyotrophic Lateral
Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients". Brain Sciences 13 2 (2023): 220. http://dx.doi.org/10.3390/brainsci13020220.
10.3390/brainsci13020220
- Falcão de Campos, Catarina; Gromicho, Marta; Uysal, Hilmi; Grosskreutz, Julian; Kuzma-Kozakiewicz, Magdalena; Oliveira Santos,
Miguel; Pinto, Susana; et al. "Trends in the diagnostic delay and pathway for amyotrophic lateral sclerosis patients across
different countries". Frontiers in Neurology 13 (2023): http://dx.doi.org/10.3389/fneur.2022.1064619.
10.3389/fneur.2022.1064619
- Schön, M.; Oliveira Santos, M.; Gromicho, M.; Pinto, S.; Swash, M.; de Carvalho, M.. "Wasted leg syndrome: An atypical slowly-progressive
form of lower motor neuron disease". Revue Neurologique 179 1-2 (2023): 114-117. http://dx.doi.org/10.1016/j.neurol.2022.09.007.
10.1016/j.neurol.2022.09.007
- Schön, Miguel; Domingues, Sara; Carvalho, Mamede; Oliveira Santos, Miguel. "Nusinersen treatment in a type 3 spinal muscular
atrophy patient during early pregnancy". (2023): http://hdl.handle.net/10451/57351.
10.1007/s10072-023-06618-x
- Oliveira Santos, Miguel; Gromicho, Marta; Pinto, Susana; Pronto Laborinho, Ana Catarina; Carvalho, Mamede. "Clinical characteristics
in amyotrophic lateral sclerosis with Sub-Saharan Africa ancestry: a Portuguese hospital-based cohort study". (2023): http://hdl.handle.net/10451/56761.
10.1016/j.clineuro.2023.107674
- Miguel Oliveira Santos; Miguel Schön; Anabela Valadas; Mamede de Carvalho. "Teaching Video NeuroImage: Disabling Jaw Clonus
in a Patient With Bulbar-Onset Amyotrophic Lateral Sclerosis Successfully Treated With Botulinum Toxin". Neurology
(2022): https://doi.org/10.1212/WNL.0000000000201114.
10.1212/WNL.0000000000201114
- Cláudia Santos Silva; Marta Gromicho; Miguel Oliveira Santos; Susana Pinto; Michael Swash; Mamede de Carvalho. "Thyroid dysfunction
in Portuguese amyotrophic lateral sclerosis patients". Neurological Sciences (2022): https://doi.org/10.1007/s10072-022-06135-3.
10.1007/s10072-022-06135-3
- Sørensen, Daniel Mosgaard; Bostock, Hugh; Ballegaard, Martin; Fuglsang-Frederiksen, Anders; Graffe, Carolina Canillo; Grötting,
Arnstein; Jones, Kelvin; et al. "Assessing inter-rater reproducibility in MScanFit MUNE in a 6-subject, 12-rater “Round Robin”
setup". Neurophysiologie Clinique 52 2 (2022): 157-169. http://dx.doi.org/10.1016/j.neucli.2021.11.002.
10.1016/j.neucli.2021.11.002
- Oliveira Santos, Miguel; Domingues, Sara; Gromicho, Marta; Pinto, Susana; de Carvalho, Mamede. "Impact of SARS-CoV-2 Infection
Among Non-Invasive Ventilated ALS Patients". Journal of Neuromuscular Diseases 9 2 (2022): 257-259. http://dx.doi.org/10.3233/jnd-210733.
10.3233/jnd-210733
- Carvalho, Mamede; Fernandes, Sofia Rita; Pereira, Mariana; Gromicho, Marta; Oliveira Santos, Miguel; Alves, Inês; Pinto, Susana;
Swash, Michael. "Respiratory function tests in amyotrophic lateral sclerosis: The role of maximal voluntary ventilation".
Journal of the Neurological Sciences 434 (2022): 120143.
Open access • 10.1016/j.jns.2022.120143
- Sofia G, Rodrigues; Miguel O, Santos. "Symmetric Distal Upper-Limb Muscle Involvement in a Patient With Dermatomyositis".
Journal of Clinical Neuromuscular Disease 23 (2022): 164-165.
10.1097/cnd.0000000000000346
- Filipa Dourado, Sotero; Isabel, Castro; Miguel Oliveira, Santos. "Focal and asymmetric triceps brachii weakness: a rare but
possible myasthenia gravis presentation". Neurological Sciences 43 (2022): 2871-2873.
10.1007/s10072-022-05886-3
- Rodrigues, Catarina; Oliveira Santos, Miguel. "An axonal Charcot–Marie–Tooth disease associated with a homozygous GDAP1 gene
mutation in two siblings from Bangladesh: a less severe phenotype". (2022): http://hdl.handle.net/10451/52228.
10.1007/s13760-022-01884-6
- Pinto, Susana; Gromicho, Marta; Oliveira Santos, Miguel; Swash, Michael; Carvalho, Mamede. "Respiratory onset in amyotrophic
lateral sclerosis: clinical features and spreading pattern". (2022): http://hdl.handle.net/10451/56123.
10.1080/21678421.2022.2067777
- Oliveira Santos, Miguel; Gromicho, Marta; Pinto, Susana; Swash, Michael; Carvalho, Mamede. "Mild dysphagia does not influence
survival in ventilated amyotrophic lateral sclerosis patients". (2022): http://hdl.handle.net/10451/54412.
10.1016/j.jns.2022.120388
- Gromicho, Marta; Leão, Tiago; Oliveira Santos, Miguel; Pinto, Susana; Carvalho, Alexandra M.; Madeira, Sara C.; Carvalho,
Mamede. "Dynamic Bayesian networks for stratification of disease progression in amyotrophic lateral sclerosis". (2022): http://hdl.handle.net/10451/54416.
10.1111/ene.15357
- Oliveira, Renato; Dourado Sotero, Filipa; Coelho, Joana E; Roque, Rafael; Moreno, Teresa; Oliveira Santos, Miguel. "Inherited
myopathies in patients from Sub-Saharan Africa: results from a retrospective cohort". (2022): http://hdl.handle.net/10451/55202.
10.1016/j.jocn.2022.10.007
- Schön, Miguel; Domingues, Sara; Moreno, Teresa; Oliveira Santos, Miguel. "A severely affected adult type 2 spinal muscular
atrophy patient treated with risdiplam". (2022): http://hdl.handle.net/10451/57035.
10.1007/s10072-022-06539-1
- Santos Silva, Cláudia; Oliveira Santos, Miguel; Gromicho, Marta; Pronto Laborinho, Ana Catarina; Conceição, isabel; Carvalho,
Mamede. "Motor neuron disease in three asymptomatic pVal50Met TTR gene carriers". (2022): http://hdl.handle.net/10451/51437.
10.1080/21678421.2022.2029899
- Santos Silva, Cláudia; Oliveira Santos, Miguel; Madureira, João; Reimão, Sofia; Carvalho, Mamede. "Novel compound heterozygous
variants of SPG11 gene associated with young-adult amyotrophic lateral sclerosis". (2022): http://hdl.handle.net/10451/58800.
10.1007/s13760-022-02148-z
- Kirsten Pugdahl; Jean-Philippe Camdessanché; Bülent Cengiz; Mamede de Carvalho; Rocco Liguori; Céline Rossatto; Miguel Oliveira
Santos; Veria Vacchiano; Birger Johnsen. "Gold Coast diagnostic criteria increase sensitivity in amyotrophic lateral sclerosis".
Clinical Neurophysiology 132 (2021): 3183-3189.
Open access • 10.1016/j.clinph.2021.08.014
- Falcão de Campos, Catarina; Gromicho, Marta; Uysal, Hilmi; Grosskreutz, Julian; Kuzma-Kozakiewicz, Magdalena; Oliveira Santos,
Miguel; Pinto, Susana; et al. "Delayed Diagnosis and Diagnostic Pathway of ALS Patients in Portugal: Where Can We Improve?".
Frontiers in Neurology 12 (2021): http://dx.doi.org/10.3389/fneur.2021.761355.
10.3389/fneur.2021.761355
- Miguel Oliveira Santos; Isabel de Castro; José Castro; Marta Gromicho; Mamede de Carvalho. "Assessment of sympathetic sudomotor
function in amyotrophic lateral sclerosis with electrochemical skin conductance.". Clinical Neurophysiology 132 (2021):
2032-2036.
10.1016/j.clinph.2021.05.016
- Nunes Vicente, Beatriz; Oliveira Santos, Miguel. "Unexpected but successful non-instrumental vaginal delivery in a spinal
muscular atrophy type II pregnant patient". Neurological Sciences 42 9 (2021): 3901-3902. http://dx.doi.org/10.1007/s10072-021-05344-6.
10.1007/s10072-021-05344-6
- Ana Catarina, Fonseca; Ana G, Almeida; Miguel Oliveira, Santos; José M, Ferro. "Neurological complications of cardiomyopathies.".
Handbook of clinical neurology 177 (2021):
- Oliveira, Renato; Ramalho Rocha, Filipa; Teodoro, Tomás; Oliveira Santos, Miguel. "Acute non-traumatic tetraparesis : differential
diagnosis". (2021): http://hdl.handle.net/10451/49501.
10.1016/j.jocn.2021.02.024
- Oliveira Santos, Miguel; Leal Rato, Miguel. "Neurology of the acute hepatic porphyrias". (2021): http://hdl.handle.net/10451/49419.
10.1016/j.jns.2021.117605
- Ferro, José; Oliveira Santos, Miguel. "Neurology of inflammatory bowel disease". (2021): http://hdl.handle.net/10451/49237.
10.1016/j.jns.2021.117426
- Santos Silva, Claudia; Oliveira Santos, Miguel; Gromicho, Marta; Pinto, Susana; Swash, Michael; de Carvalho, Mamede. "Electromyographic
findings in primary lateral sclerosis during disease progression". Clinical Neurophysiology (2021): https://publons.com/wos-op/publon/50309584/.
10.1016/J.CLINPH.2021.08.022
- Adams, D.; Polydefkis, M.; González-Duarte, A.; Wixner, J.; Kristen, A.V.; Schmidt, H.H.; Berk, J.L.; et al. "Long-term safety
and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label
extension study". The Lancet Neurology 20 1 (2021): 49-59. http://www.scopus.com/inward/record.url?eid=2-s2.0-85097405151&partnerID=MN8TOARS.
10.1016/S1474-4422(20)30368-9
- Miguel Oliveira Santos; Marta Gromicho; Susana Pinto; Mamede De carvalho. "Clinical characteristics in young-adult ALS – results
from a Portuguese cohort study". Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21 7-8 (2020): 620-623.
https://doi.org/10.1080/21678421.2020.1790611.
10.1080/21678421.2020.1790611
- Pedro Coelho; Miguel Oliveira Santos. "First Portuguese patient presenting with hereditary sensory and autonomic neuropathy
type 1E associated with a novel mutation in DNMT1 gene". Neurological Sciences 41 5 (2020): 1289-1290. https://doi.org/10.1007/s10072-019-04179-6.
10.1007/s10072-019-04179-6
- Miguel Oliveira Santos; Pedro Coelho; Rafael Roque; Isabel Conceição. "Very late-onset limb-girdle muscular dystrophy type
2D: A milder form with a normal muscle biopsy". Journal of Clinical Neuroscience 72 (2020): 471-473.
10.1016/j.jocn.2019.12.003
- Oliveira Santos, Miguel; Bentes, Carla; Teodoro, Tiago; Moreira, Susana; Marques, Marta; Tomé, Diogo; Peralta, Ana. "Complex
sleep-disordered breathing after vagus nerve stimulation: broadening the spectrum of adverse events of special interest".
(2020): http://hdl.handle.net/10451/47249.
10.1684/epd.2020.1223
- Conceição, I.; Campos, C.F.; Santos, M.O.; Carvalho, M.. "Guidelines for management of patients with neuromuscular disorders
during covid-19 pandemic,Orientações clínicas para a abordagem de doentes neuromusculares durante a pandemia covid-19". Sinapse
20 2 (2020): 50-54. http://www.scopus.com/inward/record.url?eid=2-s2.0-85097819033&partnerID=MN8TOARS.
10.46531/sinapse/AR/COVID19/ConceicaoI/2020
- Catarina Falcão de Campos; Miguel Oliveira Santos; Rafael Roque; Isabel Conceição; Mamede de Carvalho. "Mitochondrial Neurogastrointestinal
Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands". Case
Reports in Neurological Medicine 2019 (2019): 1-4.
Open access • 10.1155/2019/5976410
- Oliveira Santos, Miguel; Jacobsen, Anna Bystrup; Tankisi, Hatice. "Multiple point stimulation MUNE in ALS: toward a faster
modification". (2019): http://hdl.handle.net/10451/52805.
10.1097/WNP.0000000000000578
- Miguel, Oliveira Santos; Michael, Swash; Mamede, de Carvalho. "Concentric or monopolar electrode for jitter determination
in orbicularis oculi". Clinical Neurophysiology 129 (2018): 2552-2556.
10.1016/j.clinph.2018.09.024
- Miguel, Oliveira Santos; Pedro, Ninitas; Isabel, Conceição. "Severe limb-girdle muscular dystrophy 2A in two young siblings
from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.". Neuromuscular Disorders 28 (2018):
1003-1005.
10.1016/j.nmd.2018.09.009
- Oliveira Santos, Miguel; Evangelista, Teresinha; Conceição, isabel. "Enzyme replacement therapy with alglucosidase alfa in
a late-onset Pompe disease patient during pregnancy". (2018): http://hdl.handle.net/10451/54329.
10.1016/j.nmd.2018.08.002
- Oliveira Santos, Miguel; Gromicho, Marta; Pinto, Susana; Carvalho, Mamede. "Very late-onset amyotrophic lateral sclerosis
in a Portuguese cohort". (2018): http://hdl.handle.net/10451/54330.
10.1080/21678421.2018.1510010
- Oliveira Santos, Miguel; Caldeira, Inês; Gromicho, Marta; Pronto-Laborinho, Ana; de Carvalho, Mamede. "Brain white matter
demyelinating lesions and amyotrophic lateral sclerosis in a patient with C9orf72 hexanucleotide repeat expansion". Multiple
Sclerosis and Related Disorders 17 (2017): 1-4. http://dx.doi.org/10.1016/j.msard.2017.06.010.
10.1016/j.msard.2017.06.010
- Oliveira Santos, Miguel; Ohana, Benjamim; Carvalho, Mamede. "Celiac disease and a novel association with a multifocal acquired
motor axonopathy (MAMA)". (2017): http://hdl.handle.net/10451/54388.
10.1016/j.clinph.2017.06.038
- Gromicho, Marta; Oliveira Santos, Miguel; Pinto, Anabela; Pronto Laborinho, Ana Catarina; Carvalho, Mamede. "Young-onset rapidly
progressive ALS associated with heterozygous FUS mutation". (2017): http://hdl.handle.net/10451/54391.
10.1080/21678421.2017.1299762
- Santos, M.O.; Swash, M.; de Carvalho, M.. "The generator site in acquired autoimmune neuromyotonia". Clinical Neurophysiology
128 4 (2017): 643-646. http://www.scopus.com/inward/record.url?eid=2-s2.0-85013270512&partnerID=MN8TOARS.
10.1016/j.clinph.2017.01.018
- Santos, M.O.; Geraldes, R.; Conceicaõ, I.. "Peripheral nerve involvement in classic homocystinuria: An unusual association".
BMJ Case Reports 2016 (2016): http://www.scopus.com/inward/record.url?eid=2-s2.0-84990026435&partnerID=MN8TOARS.
10.1136/bcr-2016-216255
- Santos, Miguel Oliveira; Brito, Dulce. "Severe heart disease in an unusual case of familial amyloid polyneuropathy type I".
Revista Portuguesa de Cardiologia 32 (2013): 729-733.
Open access • 10.1016/j.repc.2013.02.011
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