Results 151 to 160 of about 66,255 (204)

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

Relationships Among Patients' Interpersonal Behaviors in Sessions, Therapist Competence, and the Therapeutic Alliance in Cognitive Behavior Therapy: A Cross-Lagged Panel Analysis. [PDF]

J Clin Psychol
Maaß U, Witthöft M, Junga YM, Hahn D, Weck F.   +4 more
europepmc   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

Australian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton, Tania Signal, Jenni A. Judd   +2 more
wiley   +1 more source

Does the therapeutic alliance process explain the results of the Egokitzen post-divorce intervention program? [PDF]

Front Psychol
Alvarez I, Herrero M, Martínez-Pampliega A.   +2 more
europepmc   +1 more source

Building Community Amidst the Institutional Whiteness of Graduate Study: Black Joy and Maroon Moves in an Academic Marronage

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi, Casianus Gemoh, Denise Chapman, Edmund Hypolite, Simon Angok, Melanie Baak, Joel Windle   +6 more
wiley   +1 more source

Therapeutic Alliance and In-Session Therapy Needs of Male Adult Sexual Assault Survivors: Perspectives of Survivors and Therapists. [PDF]

Arch Sex Behav
Guter M, Einat T, Gueta K.
europepmc   +1 more source

Navigating Whiteness in Australia's Anti‐Racism Movement: A Duoethnographic Inquiry by Women of Colour Scholars

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper applies Critical Race Theory (CRT) to explore how whiteness operates within Australia's anti‐racism movement as a structuring force that shapes discourse, practice and policy. Despite the anti‐racism movement offering crucial spaces for resistance and reform, it remains entangled in Australia's settler‐colonial present and systemic ...
Franka Vaughan, Aish Ravi
wiley   +1 more source

Therapeutic Alliance in a Culturally Tailored Transition Program for Latino Young Adults with Autism and Their Families. [PDF]

Int J Syst Ther
Pagán AF, Loveland KA, Acierno R.
europepmc   +1 more source