Results 101 to 110 of about 7,742,036 (343)

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Data from Expression Profiles Provide Insights into Early Malignant Potential and Skeletal Abnormalities in Multiple Endocrine Neoplasia Type 2B Syndrome Tumors

, 2023
Sanjay K. Jain, Mark A. Watson, Mary K. DeBenedetti, Yuji Hiraki, Jeffrey F. Moley, Jeffrey Milbrandt   +5 more
openalex   +2 more sources

Lesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini, Paolo Preziosa, Paola Valsasina, Damiano Mistri, Monica Margoni, Federica Esposito, Massimo Filippi, Maria A. Rocca   +7 more
wiley   +1 more source

PROGNOSTIC IMPACT OF CYTOGENETIC ABNORMALITIES AND R2-ISS IN MULTIPLE MYELOMA

Hematology, Transfusion and Cell Therapy
Introduction: Cytogenetic abnormalities are crucial for risk stratification and therapeutic decisions in multiple myeloma (MM). The incorporation of 1q+ into the R2-ISS prognostic tool has revealed a new subgroup of very high-risk patients not previously
LS Abreu, ML Puls, RAF Machado, TFN Araújo, CD Liz, PHA Moraes, RS Szor, EL Rosa, VC Molla, CA Rodrigues   +9 more
doaj   +1 more source

Modified culture system and combination of FICTION could increase the detection rate of abnormalities in multiple myeloma [PDF]

, 2020
Qiang Fu, Shanzhen Xie, Jiadi Chen, Changjiang Ye, Huifang Huang   +4 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

High‐risk cytogenetic abnormalities in multiple myeloma: PETHEMA‐GEM experience

HemaSphere
This study examines the impact of cytogenetic abnormalities and their co‐segregation on the prognosis of newly diagnosed multiple myeloma patients. The analysis included 1304 patients from four different GEM‐PETHEMA clinical trials.
Veronica González‐Calle, Paula Rodriguez‐Otero, Maria J. Calasanz, Manuela Guijarro, Joaquin Martínez‐López, Laura Rosiñol, Miguel T. Hernández, Ana I. Teruel, Mercedes Gironella, Albert Oriol, Javier de laRubia, Ana P. González‐Rodríguez, Joan Bargay, Felipe deArriba, Luis Palomera, Marta‐Sonia González‐Pérez, Anna Sureda, Enrique Ocio, Juan J. Lahuerta, Joan Bladé, Jesus F. San Miguel, Maria V. Mateos, Norma C. Gutiérrez   +22 more
doaj   +1 more source

Rare multiple bronchial abnormalities in a patient with congenital heart disease

Clinical Case Reports, 2017
Key Clinical Message Although many variations regarding lobar or segmental bronchial subdivisions have been described, abnormal bronchi originating from the trachea or main bronchi are relatively rare.
Andrew C. Chatzis, Joanne Sofianidou, Theofili Kousi, Olga Karapanagiotou, Meletios A. Kanakis   +4 more
doaj   +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

Genomic analysis of Kabuki syndrome with multiple abnormalities in infancy [PDF]

, 2023
Takafumi Minato, Hiroyuki Tanaka, Miki Sugimoto, Masahiro Sekiguchi, Yukiko Kuroda, Akiko Kinumaki, Motohiro Kato   +6 more
openalex   +1 more source