Results 111 to 120 of about 17,887,053 (311)

IDB News: Vol. 1, no. 1, February 1974

, 1974
IDB News is a monthly publication of the Inter-American Development Bank and appears in English and Spanish ...
Inter-American Development Bank
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

IDB News: Vol. 3, no. 1, February 1976

, 1976
IDB News is a monthly publication of the Inter-American Development Bank and appears in English and Spanish ...
Inter-American Development Bank
core   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Modelling individual variability in cognitive development [PDF]

Investigating variability in reasoning tasks can provide insights into key issues in the study of cognitive development. These include the mechanisms that underlie developmental transitions, and the distinction between individual differences and ...
Thomas, Michael S.C., Baughman, Frank D., Forrester, Neil A., Richardson, Fiona M.   +3 more
core   +2 more sources

Decreased attention in 10- and 14-month-olds with neurofibromatosis type 1 and association with later ADHD traits

Journal of Neurodevelopmental Disorders
Background Identifying precursors to ADHD, which affects up to 5% of children, is crucial for early identification and support. To this end, we used a prospective sample to investigate endogenous attention and activity level in infants with and without ...
Tessel Bazelmans, Francesca Penza, Jannath Begum-Ali, Chloe Taylor, Mark H. Johnson, Tony Charman, Jonathan Green, Shruti Garg, Emily J. H. Jones, STAARS and EDEN Teams   +9 more
doaj   +1 more source

IDB News: Vol. 1, no. 12, January 1975

, 1975
IDB News is a monthly publication of the Inter-American Development Bank and appears in English and Spanish ...
Inter-American Development Bank
core   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

IDB News: Vol. 1, no. 4, May 1974

, 1974
IDB News is a monthly publication of the Inter-American Development Bank and appears in English and Spanish ...
Inter-American Development Bank
core   +1 more source