Results 151 to 160 of about 893 (258)

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

Lack of hemochromatosis in Saint Augustine in his studio by Sandro Botticelli. [PDF]

J Endocrinol Invest
Kluger N.
europepmc   +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

Repurposing traditional China Xuan paper for versatile humidity sensing. [PDF]

Microsyst Nanoeng
Wang Z, Lin Q, Zhang F, Xian D, Meng Q, Zhao M, Li C, Maeda R, Jiang Z.   +8 more
europepmc   +1 more source

CAR T‐Cell Therapy in Neurology: A Scoping Review of Neuro‐Oncology, Autoimmune Diseases & Neurotoxicity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chimeric antigen receptor (CAR) T‐cell therapy has been investigated in neurological diseases, encompassing both central nervous system malignancies and autoimmune disorders, thereby extending its application beyond hematological cancers.
Omar Alqaisi, Mohammed Dibas, Patricia Tai, Ala Dibas, Osama Souied, Suhair Al‐Ghabeesh   +5 more
wiley   +1 more source

Nature portrayed in images in Dutch Brazil: Tracing the sources of the plant woodcuts in the Historia Naturalis Brasiliae (1648). [PDF]

PLoS One
Alcantara-Rodriguez M, Van Andel T, Françozo M.   +2 more
europepmc   +1 more source

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

State-of-the-Art and Future Directions in Structural Proteomics. [PDF]

Mol Cell Proteomics
Happonen LJ, Varjosalo M.
europepmc   +1 more source

Metabolic and Microvascular Risk Factors Associated With Brain Health in Type 1 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We examined relationships between metabolic factors, microvascular complications, and brain health in adults with type 1 diabetes. Fifty‐one adults were assessed for metabolic risk factors, microvascular complications, and cognitive function, with a subset completing brain MRI.
Jihyun Park, Emily J. Koubek, Richard Beare, Lynn Ang, Brian C. Callaghan, Rodica Pop‐Busui, Eva L. Feldman, Evan L. Reynolds   +7 more
wiley   +1 more source

Interactive design generation and optimization from generative adversarial networks in spatial computing. [PDF]

Sci Rep
Hu X, Lin C, Chen T, Chen W.
europepmc   +1 more source