Results 151 to 160 of about 423,991 (315)

Human endogenous retrovirus-K contributes to motor neuron disease

Science Translational Medicine, 2015
Wenxue Li, Myoung-Hwa Lee, L. Henderson, R. Tyagi, Muznabanu Bachani, J. Steiner, E. Campanac, D. Hoffman, G. von Geldern, Kory R. Johnson, D. Maric, H. D. Morris, M. Lentz, K. Pak, A. Mammen, L. Ostrow, J. Rothstein, A. Nath   +17 more
semanticscholar   +1 more source

Purkinje Cell Loss in Essential Tremor: Collective Data From 215 Brains Over a 21‐Year Period

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Essential tremor is a highly prevalent movement disorder. Pathological changes observed in essential tremor cerebella center around Purkinje cells and neighboring neuronal populations. Postmortem studies have variably, but not always, shown reduced Purkinje cell counts in essential tremor compared to controls.
Chloë A. Kerridge, Roberto S. Hernandez, Nora C. Hernandez, Phyllis L. Faust, Elan D. Louis   +4 more
wiley   +1 more source

Prion-like propagation of mutant SOD1 misfolding and motor neuron disease spread along neuroanatomical pathways

Acta Neuropathologica, 2015
Jacob I. Ayers, S. Fromholt, Veronica O’Neal, Jeffrey Diamond, D. Borchelt   +4 more
semanticscholar   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Erratum to: Immunohistochemical and ultrastructural study of basophilic inclusions in adult-onset motor neuron disease [PDF]

, 2001
Shoichi Sasaki, Sono Toi, Akiko Shirata, Kiyomi YAMANE, Hideo Sakuma, Makoto Iwata   +5 more
openalex   +1 more source

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Acta Neuropathologica, 2015
Cyril Pottier, Kevin F Bieniek, N. Finch, M. Vorst, M. Baker, Ralph Perkersen, Patricia H. Brown, Thomas A. Ravenscroft, M. Blitterswijk, Alexandra M. Nicholson, M. DeTure, D. Knopman, K. Josephs, J. Parisi, R. Petersen, K. Boylan, B. Boeve, N. Graff-Radford, J. Veltman, C. Gilissen, M. Murray, D. Dickson, R. Rademakers   +22 more
semanticscholar   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source

902. Gene Therapy of Motor Neuron Diseases by In Vivo Electroporation in Muscle [PDF]

, 2002

openalex   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source