Results 151 to 160 of about 3,470 (308)

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

The emergence of globular clusters and globular-cluster-like dwarfs. [PDF]

Nature
Taylor ED, Read JI, Orkney MDA, Kim SY, Pontzen A, Agertz O, Rey MP, Andersson EP, Collins MLM, Yates RM.   +9 more
europepmc   +1 more source

Prisma: A New Space Mission For Stellar Physics [PDF]

, 1993
T. Appourchaux, D. O. Gough, P. Hyoyng, C. Catala, S. Frandsen, C. Fröhlich, A. Kyle Jones, P. Lemaire, G. Tondello, W. W. Weiß   +9 more
openalex   +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

Starspots as the origin of ultrafast drifting radio bursts from an active M dwarf. [PDF]

Sci Adv
Zhang J, Tian H, Bellotti S, Cang T, Callingham JR, Vedantham HK, Chen B, Yu S, Zarka P, Louis CK, Jiang P, Lu H, Gao Y, Sun J, Gan H, Li H, Sun C, Lei Z, Huang M.   +18 more
europepmc   +1 more source

Unsolved Problems in Stellar Pulsation Physics [PDF]

, 2002
A. N. Cox
openalex   +1 more source

From stellar haloes to intracluster light: the physics of the Intra-Halo Stellar Component in cosmological hydrodynamical simulations [PDF]

, 2020
Rodrigo Cañas, Claudia del P. Lagos, Pascal J. Elahi, Chris Power, Charlotte Welker, Yohan Dubois, Christophe Pichon   +6 more
openalex   +1 more source

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

The Origins & Reservoirs of Exocomets. [PDF]

Space Sci Rev
Bannister M, Pfalzner S, Pearce T, Mustill AJ, Klahr H, Nomura H, Ohashi N, Kokotanekova R, Marino S, Bodewits D, Marschall R, Seligman DZ, Jones GH, Veras D.   +13 more
europepmc   +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