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1001por Trojsi, Francesca, Di Nardo, Federica, D’Alvano, Giulia, Caiazzo, Giuseppina, Passaniti, Carla, Mangione, Antonella, Sharbafshaaer, Minoo, Russo, Antonio, Silvestro, Marcello, Siciliano, Mattia, Cirillo, Mario, Tedeschi, Gioacchino, Esposito, Fabrizio“…We aimed at exploring brain functional connectivity (FC) correlates of PBA in patients with amyotrophic lateral sclerosis (ALS), the most common motor neuron disease, frequently associated with PBA. Resting state functional MRI (RS-fMRI) independent component (ICA) and seed-based analyses and voxel-based morphometry (VBM) whole-brain analysis were performed on 27 ALS patients (13 with PBA; 14 without PBA) and 26 healthy controls (HC), for investigating functional and structural abnormalities in ALS patients compared to HC and in patients with PBA compared to patients without PBA. …”
Publicado 2022
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1002por Zhu, Xiaomei, Li, Hui, Hu, Chaoping, Wu, Min, Zhou, Shuizhen, Wang, Yi, Li, Wenhui“…The subsequent nerve conduction study revealed some characteristics of motor neuron diseases. We identified a homozygous deletion in exon 7 of the SMN1 gene by multiplex ligation-dependent probe amplification and failed to find further pathogenic variations responsible for multiple malformations by trio WES and aCGH. …”
Publicado 2023
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1003por Bombaci, Alessandro, Manera, Umberto, De Marco, Giovanni, Casale, Federico, Salamone, Paolina, Fuda, Giuseppe, Marchese, Giulia, Iazzolino, Barbara, Peotta, Laura, Moglia, Cristina, Calvo, Andrea, Chiò, Adriano“…(1) Background: Motor neuron diseases (MNDs) are fatal neurodegenerative diseases. …”
Publicado 2023
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1004“…Neurological symptoms frequently overlap with extrapyramidal syndromes, motor neuron disease and dementia. Diagnosis is confirmed by anti-IgLON5 IgG in CSF and/or serum. …”
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1005por Li, Jin‐Yue, Dai, Yi, Sun, Xiao‐Han, Ren, Hai‐tao, Shen, Dong‐chao, Yang, Xun‐Zhe, Liu, Ming‐Sheng, Cui, Li‐Ying“…BACKGROUND: Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) were two major motor neuron diseases with similar symptoms and poor outcomes. …”
Publicado 2023
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1006por Cannon, Amelia Elaine, Zürrer, Wolfgang Emanuel, Zejlon, Charlotte, Kulcsar, Zsolt, Lewandowski, Sebastian, Piehl, Fredrik, Granberg, Tobias, Ineichen, Benjamin Victor“…BACKGROUND AND OBJECTIVES: Animal models for motor neuron diseases (MND) such as amyotrophic lateral sclerosis (ALS) are commonly used in preclinical research. …”
Publicado 2023
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1007por Clark, Rosemary M., Clark, Courtney M., Lewis, Katherine E.A., Dyer, Marcus S., Chuckowree, Jyoti A., Hoyle, Joshua A., Blizzard, Catherine A., Dickson, Tracey C.“…OBJECTIVE: Neuropeptide Y (NPY) is a 36 amino acid peptide widely considered to provide neuroprotection in a range of neurodegenerative diseases. In the fatal motor neuron disease amyotrophic lateral sclerosis (ALS), recent evidence supports a link between NPY and ALS disease processes. …”
Publicado 2023
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1008“…Overlap syndrome is a condition wherein both motor neuron disease (MND) and MG are present in the same patient. …”
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1009por Zhang, Bin, Tu, Pang-hsien, Abtahian, Farhad, Trojanowski, John Q., Lee, Virginia M.-Y.“…Mice engineered to express a transgene encoding a human Cu/Zn superoxide dismutase (SOD1) with a Gly(93) → Ala (G93A) mutation found in patients who succumb to familial amyotrophic lateral sclerosis (FALS) develop a rapidly progressive and fatal motor neuron disease (MND) similar to amyotrophic lateral sclerosis (ALS). …”
Publicado 1997
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1010por Bäumer, Dirk, Lee, Sheena, Nicholson, George, Davies, Joanna L., Parkinson, Nicholas J., Murray, Lyndsay M., Gillingwater, Thomas H., Ansorge, Olaf, Davies, Kay E., Talbot, Kevin“…Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN protein. …”
Publicado 2009
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1011por Jesse, Sarah, Brettschneider, Johannes, Süssmuth, Sigurd D., Landwehrmeyer, Bernhard G., von Arnim, Christine A. F., Ludolph, Albert C., Tumani, Hayrettin, Otto, Markus“…A total of 765 patients (Alzheimer’s disease (AD), Parkinson’s disease (PD), Parkinson’s disease dementia (PDD), vascular dementia (VD), frontotemporal lobar degeneration (FTLD), progressive supranuclear palsy (PSP), multisystem atrophy (MSA), motor neuron diseases (MND), spinocerebellar ataxia (SCA), Huntington’s disease (HD)) and non-demented control groups including a group of patients with muscular disorders (MD). …”
Publicado 2010
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1012por Zalachoras, Ioannis, Evers, Melvin M., van Roon-Mom, Willeke M. C., Aartsma-Rus, Annemieke M., Meijer, Onno C.“…Pre-mRNA targeting is currently used both as a research tool, e.g., in models for motor neuron disease, and in clinical trials for Duchenne muscular dystrophy and amyotrophic lateral sclerosis. …”
Publicado 2011
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1013por Galbiati, Mariarita, Onesto, Elisa, Zito, Arianna, Crippa, Valeria, Rusmini, Paola, Mariotti, Raffaella, Bentivoglio, Marina, Bendotti, Caterina, Poletti, Angelo“…Recent data suggest that the increased risk for amyotrophic lateral sclerosis (ALS) in male soccer and football players could be linked to AAS abuse. ALS is a motor neuron disease mainly occurring in sporadic (sALS) forms, but some familial forms (fALS) exist and have been linked to mutations in different genes. …”
Publicado 2012
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1014por Mórotz, Gábor M., De Vos, Kurt J., Vagnoni, Alessio, Ackerley, Steven, Shaw, Christopher E., Miller, Christopher C.J.“…A proline-to-serine substitution at position 56 in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB; VAPBP56S) causes some dominantly inherited familial forms of motor neuron disease, including amyotrophic lateral sclerosis (ALS) type-8. …”
Publicado 2012
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1015“…BACKGROUND: Hirayama disease (HD) is benign focal amyotrophy of the distal upper limbs, often misdiagnosed as motor neuron disease. Routine magnetic resonance imaging (MRI) is often reported normal. …”
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1016por Dibaj, Payam, Zschüntzsch, Jana, Steffens, Heinz, Scheffel, Jörg, Göricke, Bettina, Weishaupt, Jochen H., Le Meur, Karim, Kirchhoff, Frank, Hanisch, Uwe-Karsten, Schomburg, Eike D., Neusch, Clemens“…Mutations in SOD1 cause hereditary variants of the fatal motor neuron disease amyotrophic lateral sclerosis (ALS). …”
Publicado 2012
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1017“…METHODS: Through searching PubMed databases (or manual searching) up to April 2012 using the following keywords: “occupational exposure”, “electromagnetic fields” and “amyotrophic lateral sclerosis” or “motor neuron disease”, seventeen studies were identified as eligible for this meta-analysis. …”
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1018por Peters, Michele, Jenkinson, Crispin, Doll, Helen, Playford, E Diane, Fitzpatrick, Ray“…METHODS: A cross-sectional survey was conducted of 1910 (37.4%) of carers of 5109 people with motor neuron disease (MND) (n=434, 54.9%), multiple sclerosis (MS) (n=721, 30.7%) and Parkinson’s disease (PD) (n=755, 38.2%). …”
Publicado 2013
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1019por Christou, Yiota A, Ohyama, Kyoji, Placzek, Marysia, Monk, Peter N, Shaw, Pamela J“…BACKGROUND: The efficient derivation of mature (Hb9+) motor neurons from embryonic stem cells is a sought-after goal in the understanding, and potential treatment, of motor neuron diseases. Conditions that promote the robust generation of motor neuron progenitors from embryonic stem cells and that promote the survival of differentiated motor neurons ex vivo are likely, therefore, to be critical in future biological/therapeutic/screening approaches. …”
Publicado 2013
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1020por Thielsen, Karina D., Moser, Jakob M., Schmitt-John, Thomas, Jensen, Morten S., Jensen, Kimmo, Holm, Mai Marie“…Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease. It is a fatal degenerative disease, best recognized for its debilitating neuromuscular effects. …”
Publicado 2013
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