Results 91 to 100 of about 211,506 (236)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Australian Practitioners' Beliefs, Confidence, and Training Needs for Delivering Behaviour Support to Children and Young People in Out‐of‐Home Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Children in out‐of‐home care (OOHC) frequently present with complex behavioural needs. In New South Wales (NSW), behaviour support plans (BSPs) are mandated when restrictive practices, including psychotropic medication, are used. Little research has examined whether the statutory workforce is adequately prepared to meet behaviour support ...
Manisha Abayakoon Stanborough, Kelly‐Ann Allen, Emily Berger, Mikaela Stanborough, Erin Leif   +4 more
wiley   +1 more source

How Are Australian Local Governments Responding to the Homelessness Crisis? Findings From a National Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian local governments are facing intensifying pressures to respond to worsening visible homelessness. This paper presents one of the first national studies on how local governments are responding to these pressures, and the first since the onset of the post‐pandemic housing crisis.
Andrew Clarke, Joelle Moore, Fatemeh Aminpour, Katya Eagles   +3 more
wiley   +1 more source

Neurophysiological Recovery Following Nerve Transfer Surgery to Restore Upper Limb Function after Cervical Spinal Cord Injury

Annals of Neurology, EarlyView.
Objectives Nerve transfer is a promising intervention for restoring hand and upper limb function after cervical spinal cord injury (SCI), but the timeline of neurophysiological recovery in humans remains unclear. This study aimed to define recovery profiles after nerve transfers to restore upper limb function.
Kyle J. Missen, Justin M. Brown, Ross M. Mandeville, Harvey Wu, Sean Bristol, Peter K. Broadhurst, Erin Brown, Christopher Doherty, Amy K. Hanlan, Russell O'Connor, Lawrence R. Robinson, Kayton Rotenberg, J. Michael Hendry, Jana Dengler, Michael J. Berger   +14 more
wiley   +1 more source

Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Behavioral impairment is common in amyotrophic lateral sclerosis (ALS) and strongly affects autonomy, caregiver burden, and outcomes, yet predictors of vulnerability remain unclear. We investigated whether premorbid regulatory traits and socio‐educational exposures are associated with behavioral phenotypes in ALS within a behavioral reserve ...
Francesca Palumbo, Barbara Iazzolino, Cristina Moglia, Umberto Manera, Enrico Matteoni, Sara Cabras, Giorgio Pellegrino, Emilio Minerva, Vita Passidomo, Rosario Vasta, Gabriele Mora, Fabrizio D’Ovidio, Antonio Canosa, Andrea Calvo, Adriano Chiò   +14 more
wiley   +1 more source

Rewriting Tumor Immunity With Bacterial Membrane Vesicles: A Versatile and Potent Therapeutic Strategy

Advanced NanoBiomed Research, EarlyView.
Bacterial membrane vesicles (BMVs) emerge as promising platforms for cancer immunotherapy owing to their intrinsic adjuvant properties and tunable cargo delivery capabilities. Their ability to modulate the tumor microenvironment, enhance antitumor immune responses, and support personalized therapeutic strategies highlights their growing potential as ...
Md Sifat Rahi, Md Mijanur Rahman, Asma Talukder, Urooj Yousaf Virk, Jennifer C. Wilson, Nigel McMillan, Ming Q. Wei   +6 more
wiley   +1 more source

Greenwashing Marine Conservation: The Use of Artificial Reefs for Fisheries and Coral Restoration Needs Oversight

Conservation Letters
Attention to the overwhelming degradation in the marine environment is causing a new crisis: funding often outpaces the science, leading to myriad, often hastily planned, projects that may be accelerating the detriment of the very ecosystems they are ...
Jacob E. Allgeier, Matthew Griffith
doaj   +1 more source

Molecular methods for differentiating Phragmites australis subspecies and identification of hybrid stands in the Upper Midwestern United States

Applications in Plant Sciences, EarlyView.
Abstract Premise In North America, Phragmites australis (common reed) has drawn a great deal of research attention. Non‐native P. australis subsp. australis is a noxious weed that has locally displaced native P. australis subsp. americanus in some areas.
Nicholas P. Tippery, Daniel J. Larkin, Julia Bohnen, Douglas L. Wendell, Neil O. Anderson, Susan M. Galatowitsch, Marie Abbey, Alan G. Smith, Andrzej K. Noyszewski   +8 more
wiley   +1 more source

Origin, evolution and biogeographic dynamics of the European rabbit (Oryctolagus cuniculus) in Southwestern Europe

The Anatomical Record, EarlyView.
Abstract The Pleistocene is a key period for understanding the evolutionary history and palaeobiogeography of the European rabbit (Oryctolagus cuniculus). The species was first documented in southeastern Iberia at the beginning of the Middle Pleistocene and appears to have rapidly spread throughout Southwestern Europe, where it was found in numerous ...
Maxime Pelletier
wiley   +1 more source

DLBCL Coast to Coast

HemaSphere, 2018
openaire   +3 more sources