Results 141 to 150 of about 1,205,804 (266)

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

Connectome-driven neural inventory of a complete visual system. [PDF]

Nature
Nern A, Loesche F, Takemura SY, Burnett LE, Dreher M, Gruntman E, Hoeller J, Huang GB, Januszewski M, Klapoetke NC, Koskela S, Longden KD, Lu Z, Preibisch S, Qiu W, Rogers EM, Seenivasan P, Zhao A, Bogovic J, Canino BS, Clements J, Cook M, Finley-May S, Flynn MA, Hameed I, Fragniere AMC, Hayworth KJ, Hopkins GP, Hubbard PM, Katz WT, Kovalyak J, Lauchie SA, Leonard M, Lohff A, Maldonado CA, Mooney C, Okeoma N, Olbris DJ, Ordish C, Paterson T, Phillips EM, Pietzsch T, Salinas JR, Rivlin PK, Schlegel P, Scott AL, Scuderi LA, Takemura S, Talebi I, Thomson A, Trautman ET, Umayam L, Walsh C, Walsh JJ, Xu CS, Yakal EA, Yang T, Zhao T, Funke J, George R, Hess HF, Jefferis GSXE, Knecht C, Korff W, Plaza SM, Romani S, Saalfeld S, Scheffer LK, Berg S, Rubin GM, Reiser MB.   +70 more
europepmc   +2 more sources

Concurrent temporal patterning of neural stem cells in the fly visual system. [PDF]

Nat Commun
Valentino P, Islam IM, Arain U, Erclik T.   +3 more
europepmc   +1 more source

Nutritional effects on the visual system of the rotifer Brachionus plicatilis sensu stricto (Rotifera: Monogononta)

, 2014
Hee‐Jin Kim, Chihona Sawada, Jae‐Sung Rhee, Jae‐Seong Lee, Koushirou Suga, Atsushi Hagiwara   +5 more
openalex   +2 more sources

Annual 12‐Week Dosing Gap of Natalizumab: Clinical Efficacy, Blood Biomarkers, and CSF Cell Composition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich, Tilman Schneider‐Hohendorf, Eric Baetscher, Evan L. Riddle, Marie Deffner, Emily Katsnelson, Janine Ferrant‐Orgettas, Julie Czerkowicz, John Anderson, Susan E. Goelz, Nicholas Schwab   +10 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

Grey matter connectivity within and between auditory, language and visual systems in prelingually deaf adolescents

, 2015
Wenjing Li, Jianhong Li, Zhenchang Wang, Yong Li, Zhaohui Liu, Fei Yan, Junfang Xian, Huiguang He   +7 more
openalex   +2 more sources

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

The asymmetry system properties of the visual system: Evidence from serial face processing. [PDF]

J Vis
Yu JM, Ying H.
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