Results 81 to 90 of about 9,501 (200)

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD‐ADCY5)

Movement Disorders, EarlyView.
Abstract Background Mixed movement disorders linked to ADCY5 (MxMD‐ADCY5) represent a rare hyperkinetic movement disorder resulting from pathogenic variants in ADCY5. Psychiatric symptoms are suspected to be part of the phenotype. Objective The study aim was to assess psychiatric comorbidities in patients with MxMD‐ADCY5.
Aurélie Méneret, Clément Tarrano, Asya Ekmen, Diane Doummar, Victoria Gonzalez, Christine Tranchant, Mathieu Anheim, Philippe Damier, Eoin Mulroy, Kailash P. Bhatia, Laura Cif, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Florence Riant, Manon Gomes, Vanessa Brochard, Agathe Roubertie, Oriane Trouillard, Caroline Dubacq, Yulia Worbe, Mohamed Doulazmi, Emmanuel Roze   +23 more
wiley   +1 more source

Localization of Dystonic Muscles with 18F-FDG PET/CT in Idiopathic Cervical Dystonia [PDF]

, 2007
Duk Hyun Sung, Ja Young Choi, D.-H. Kim, E.-S. Kim, Young‐Ik Son, Y.-S. Cho, Su Jin Lee, K.-H. Lee, B.-T. Kim   +8 more
openalex   +1 more source

Relief of pain associated with spasticity in adult patients after treatment with onabotulinumtoxinA: Post hoc observational results from the ASPIRE study

PM&R, EarlyView.
Abstract Background Pain is often observed in patients with spasticity, but little is known about the relationship between pain and spasticity and the effectiveness of treating pain with botulinum toxins in these patients. Objective To explore onabotulinumtoxinA (onabotA) use and pain relief in patients with spasticity with pain at baseline.
Jörg Wissel, Cassandra List, Marc Schwartz, Mariana Nelson, Tiziana Musacchio, Esther Duarte   +5 more
wiley   +1 more source

Attention impairment in patients with cervical dystonia: An attention network test study [PDF]

, 2022
Kun Xia, Yongsheng Han, Lanlan Zhou, Sheng Hu, Rao Rao, Shu Shan, Lei Hua   +6 more
openalex   +1 more source

Fall experiences of ambulatory children and adults with cerebral palsy: A qualitative study using thematic content analysis

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To qualitatively assess the causes, adaptations, and psychosocial impact of falls, and solutions for safer environments, as shared by individuals diagnosed with cerebral palsy (CP). Method Ambulatory adults with CP (n = 165; age median [interquartile range], range: 30 years [25–50], 18–76 years); 101 females, 59 males, five non‐binary/not ...
Marissa Esterley, Linda E. Krach, Kari Pederson, Sandy Callen Tierney, Nathan G. Wandersee, Elizabeth R. Boyer, on behalf of The Cerebral Palsy Research Network   +6 more
wiley   +1 more source

A Bespoke Electronic Health Journal for Monitoring Response to Botulinum Toxin in Treatment of Cervical Dystonia: Open-Label Observational Study of User Experience (Preprint)

, 2023
C. Edwards, Rebecca Borton, Anita Ross, Fiona Molloy   +3 more
openalex   +1 more source

Gastroenterological disorders and hepatic disease in adults with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe the incidence, prevalence, and prognostic factors for gastroenterological disorders and hepatic disease in adults with cerebral palsy (CP), and to examine the effectiveness of any screening or interventions. Method Six databases were searched for articles published in any language since 1990 meeting eligibility criteria ...
Christina M. Marciniak, Jennifer M. Ryan, Alejandra Camacho‐Soto, Emily Capellari, Jessica Burke, Maram Sofiany, Zoë Post, Eric C. Sung, Michael D. Brown, the Adult Cerebral Palsy Clinical Practice Guidelines Working Group, Jennifer M Ryan, Rachel Byrne, Emily Capellari, Donna Riccio Omichinski, Mark Peterson, Jan Willem Gorter, Ashley Harris Whaley, Christine Imms, Christina M. Marciniak   +18 more
wiley   +1 more source

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 511-517, February 2026.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger   +11 more
wiley   +1 more source

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

European Journal of Neurology, Volume 33, Issue 2, February 2026.
In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Victor Alm, Linda Säll, Kristin Samuelsson, Rayomand Press, Snjolaug Arnardottir, Anna Lindstrand, Valter Niemelä, Lilia Terinte, Frida Nordin, Per Svenningsson, Daniel Nilsson, Luca Verrecchia, Martin Paucar   +12 more
wiley   +1 more source