Results 41 to 50 of about 11,861 (217)

Neuropathology and Therapeutic Intervention in Spinal and Bulbar Muscular Atrophy [PDF]

International Journal of Molecular Sciences, 2009
Spinal and bulbar muscular atrophy (SBMA) is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR). The histopathological finding in SBMA is loss of lower motor neurons in the anterior horn of the spinal cord as well as in the brainstem motor nuclei.
Haruhiko, Banno, Masahisa, Katsuno, Keisuke, Suzuki, Fumiaki, Tanaka, Gen, Sobue   +4 more
openaire   +2 more sources

Facial onset sensory and motor neuronopathy: new cases, cognitive changes and pathophysiology [PDF]

, 2020
Purpose of review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent findings We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN.
Al-Chalabi, Ammar, Albertí Aguilo, Maria A., Anderson, Stuart J., Barritt, Andrew W., Bella, Eleonora Dalla, Broad, Rebecca, De Boer, Eva M.J., De Souza, Paulo V.S., Elamin, Marwa, Goedee, H. Stephan, Harschnitz, Oliver, Lauria, Giuseppe, Leigh, Peter N., Nisbet, Angus, Oliveira, Acary S.B., Pardo Fernandez, Julio, Parson, Malu, Pinto, Wladimir B.V.R., Povedano Panades, Mónica, Prudlo, Johannes, Toro, Camilo, Van Den Berg, Leonard H., Van Es, Michael A., Van Iersel, Joost, Vedeler, Christian A., Veldink, Jan H., Vázquez Costa, Juan F.   +26 more
core   +3 more sources

Deciphering Amyotrophic Lateral Sclerosis: What Phenotype, Neuropathology and Genetics Are Telling Us about Pathogenesis [PDF]

, 2013
Amyotrophic lateral sclerosis (ALS) is characterized phenotypically by progressive weakness and neuropathologically by loss of motor neurons. Phenotypically, there is marked heterogeneity.
Appel, Stanley, Baloh, Robert H., Barohn, Richard, Brooks, Benjamin Rix, Elman, Lauen, Floeter, Mary Kay, Henderson, Christopher, Lomen-Hoerth, Catherine, Macklis, Jeffrey Daniel, Mccluskey, Leo, Mitsumoto, Hiroshi, Prezedborski, Serge, Ravits, John, Ringel, Steven, Rothstein, Jeffrey, Trojanowski, John, Van Den Berg, Leonard   +16 more
core   +1 more source

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

Zur Androgenrezeptor-Hypothese der amyotrophen Lateralsklerose [PDF]

, 1994
Unter Annahme einer möglichen Funktionsstörung des Androgenrezeptors bei der amyotrophen Lateralsklerose (ALS) wurde die repetitive CAG-Trinukleotidsequenz seines ersten Exons bei 12 Patienten untersucht, da eine abnorme Verlängerung dieses Genabschnitts
Borasio, Gian Domenico, Danek, Adrian, Kreß, W., Witt, T. N.   +3 more
core   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS) [PDF]

, 2010
Background: Amyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3-10% of patients.
Adrian Higginbottom, Alice Brockington, Andrew J. Grierson, Christine E. Burness, Emily F. Goodall, Hannah C. Hollinger, Heather Mortiboys, Janine Kirby, Judith A. Hartley, Karen E. Morrison, Laura E. Cox, Laura Ferraiuolo, Mark R. Cookson, Pamela J. Shaw, Paul G. Ince, Paul R. Heath, Stephen B. Wharton   +16 more
core   +4 more sources

Microglial HVCN1 Deficiency Improves Movement and Survival of SOD1G93A ALS Mice by Enhancing Microglial Migration and Neuroprotection

Advanced Science, EarlyView.
Hydrogen voltage gated channel 1 (HVCN1) is upregulated in microglia of both ALS patients and its mouse model. HVCN1 deficiency enhances microglial migration via suppressing Akt signaling, promotes neurotrophic capacity and motor function, and prolongs survival of the SOD1G93A ALS mice. This study identifies HVCN1 as a novel, promising druggable target
Fan Wang, Ke‐Yu Zhang, Lang‐Jian Zhu, Wei‐Jue Li, Yang Wu, Xiang Gao, Xiao‐Ru Ma, Xiu‐Hua Yin, Jian‐Bin Wu, Xiao‐Kang Ye, Zhao‐Jun Dong, Di‐Xian Wang, Zhe Zhou, Shao‐Dong Wang, Lei Han, Zhi‐Nong Jiang, Jing‐Wei Zhao   +16 more
wiley   +1 more source

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]

, 2010
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki, BA Hosler, C Lomen-Hoerth, C Vance, Christopher J. McDermott, D Neary, DR Rosen, E Buratti, E Buratti, E Kabashi, Emily F. Goodall, F Gros-Louis, GM Ringholz, H Daoud, Hannah C. Hollinger, I Gijselinck, IF Wang, IR Mackenzie, J Kirby, J Sreedharan, J. Robin Highley, Janine Kirby, JJ Kew, Judith A. Hartley, Karen E. Morrison, L Benajiba, L Corrado, M Morita, M Neumann, MJ Strong, MJ Winton, NJ Rutherford, P Kuhnlein, PA Mercado, Pamela J. Shaw, Paul G. Ince, PM Andersen, R Bo Del, R Lemmens, Rachel Hibberd, RJ Guerreiro, Rudo Masanzu, SH Ou, Stephen B. Wharton, VM Deerlin Van, William Smith, YM Ayala   +46 more
core   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source