Results 151 to 160 of about 20,100 (250)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Tensor-valued diffusion MRI differentiates cortex and white matter in malformations of cortical development associated with epilepsy. [PDF]

Epilepsia, 2020
Lampinen B, Zampeli A, Björkman-Burtscher IM, Szczepankiewicz F, Källén K, Compagno Strandberg M, Nilsson M.   +6 more
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development. [PDF]

AJNR Am J Neuroradiol
Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, D'Arco F, Löbel U, Gómez-Chiari M, Serrano M, Bolasell M, Reddy K, Ben-Sira L, Zakzouk R, Al-Hashem A, Mirsky DM, Patel R, Radhakrishnan R, Shekdar K, Whitehead MT, Mankad K.   +19 more
europepmc   +1 more source

Interhemispheric cistern lipoma associated with malformations of cortical development, hypogenesis of the corpus callosum, and abnormal vasculature. [PDF]

Chin Med J (Engl), 2020
Wang LM, Zhang M, Wang PP, Wei LF, Piao YS, Chen L, Lu DH.   +6 more
europepmc   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Mouse models of Slc35a2 brain mosaicism reveal mechanisms of mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy. [PDF]

Epilepsia
Yoon H, Ringland A, Anderson JJ, Sran S, Elziny S, Huynh C, Shinagawa N, Badertscher S, Corrigan RR, Mashburn-Warren L, Amari F, Chen M, Coppola V, Crino PB, Bedrosian TA.   +14 more
europepmc   +1 more source

Individualized Atrophy‐Based Prediction of Dementia Progression in Familial Frontotemporal Lobar Degeneration With Bayesian Linear Mixed‐Effects Modeling

Annals of Neurology, EarlyView.
Objective Age of symptom onset is highly variable in familial frontotemporal lobar degeneration (f‐FTLD). Accurate prediction of onset would inform clinical management and trial enrollment. Prior studies indicate that individualized maps of brain atrophy can predict conversion to dementia in f‐FTLD.
Shubir Dutt, Dana Leichter, Yann Cobigo, Amy Wolf, John Kornak, Annie Clark, Lucy L. Russell, Arabella Bouzigues, David M. Cash, Martina Bocchetta, Molly Olzinski, Brian Appleby, Ece Bayram, Barbara Borroni, Andrea Bozoki, Chris R. Butler, David Clark, Rhian S. Convery, R. Ryan Darby, Alexandre de Mendonça, Bradford Dickerson, Kimiko Domoto‐Reilly, Simon Ducharme, Eve Ferry‐Bolder, Elizabeth Finger, Phoebe H. Foster, Douglas R. Galasko, Daniela Galimberti, Alexander Gerhard, Nupur Ghoshal, Caroline Graff, Neill Graff‐Radford, Ian M. Grant, Chadwick M. Hales, Lawrence S. Honig, Ging‐Yuek Hsiung, Edward D. Huey, David Irwin, Lize C. Jiskoot, Walter Kremers, Justin Y. Kwan, Robert Laforce, Isabelle Le Ber, Gabriel C. Léger, Johannes Levin, Irene Litvan, Ian R. Mackenzie, Mario Masellis, Mario F. Mendez, Fermin Moreno, Chiadi Onyike, Markus Otto, Belen Pascual, Peter Pressman, Rosa Rademakers, Eliana Marisa Ramos, Aaron Ritter, Erik D. Roberson, James B. Rowe, Raquel Sanchez‐Valle, Isabel Santana, Harro Seelaar, Allison Snyder, Sandro Sorbi, Matthis Synofzik, Maria Carmela Tartaglia, Pietro Tiraboschi, John C. van Swieten, Marijne Vandebergh, Rik Vandenberghe, Hilary W. Heuer, Bruce L. Miller, William W. Seeley, Maria Luisa Gorno‐Tempini, Joel H. Kramer, Leah Forsberg, Kejal Kantarci, Bradley F. Boeve, Adam L. Boxer, Jonathan D. Rohrer, Howard J. Rosen, Adam M. Staffaroni, FTD Prevention Initiative (FPI) investigators   +82 more
wiley   +1 more source

Relationship between prenatal ultrasound signs and genetic abnormalities for fetal malformations of cortical development. [PDF]

Ultraschall Med
Chen J, Zhu R, Pan H, Ma Y, Zhu Y, Liu L, Hou X, Haratz KK.   +7 more
europepmc   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source