Results 31 to 40 of about 18,754 (181)

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

Exocrine Gland Dysfunction in Parkinson's Disease: Pathophysiology, Clinical Manifestations, and Therapeutic Perspectives—A Narrative Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Non‐motor symptoms, especially autonomic dysfunction, are major contributors to disability and decreased quality of life in Parkinson's disease (PD). Despite being common and having a wide range of clinical facets, exocrine gland dysfunction is still not well recognized and managed.
Renato P. Munhoz, Marina Farah, Laura Silveira‐Moriyama   +2 more
wiley   +1 more source

Apraxia of speech due to the left postcentral gyrus lesion

Clinical Case Reports
Key Clinical Message Apraxia of speech (AOS) due to a postcentral infarction differs from conventional precentral AOS with respect to phonemic errors (phoneme substitution) which are more common than phonetic errors (phoneme distortion) and preserved ...
Naoko Mitani, Yasuhisa Sakurai
doaj   +1 more source

Apraxia Patterns for the Differentiation between Alzheimer’s Disease and Frontotemporal Dementia Variants

Medicina
Background and Objectives: Despite the increasing use of biomarkers, differentiation between Alzheimer’s disease (AD), behavioral variant Frontotemporal Dementia (bvFTD), and Primary Progressive Aphasia (PPA) remains a challenge.
Georgios Papadopoulos, Dimitrios Parissis, Anna Gotzamani-Psarrakou, Panagiotis Ioannidis   +3 more
doaj   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Action Observation for Neurorehabilitation in Apraxia

Frontiers in Neurology, 2019
Neurorehabilitation and brain stimulation studies of post-stroke patients suggest that action-observation effects can lead to rapid improvements in the recovery of motor functions and long-term motor cortical reorganization.
Mariella Pazzaglia, Mariella Pazzaglia, Giulia Galli   +2 more
doaj   +1 more source

Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR‐PSP)

Movement Disorders Clinical Practice, EarlyView.
Background Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and phenotypic profiles of a large
Prashanth Lingappa Kukkle, Divyani Garg, Jacky Ganguly, Soaham Desai, Rukmini Mridula Kandadai, Sahil Mehta, Pettarusp Murzban Wadia, Deepika Joshi, Lulup Sahoo, Vijayashankar Paramanandam, Taallapalli Ashok Vardhan Reddy, Adreesh Mukherjee, Syam Krishnan, Kuldeep Shetty, Charulata Sankhla, Pankaj Agarwal, Heli S. Shah, Suvorit Bhowmick, Mitesh Chandarana, Malini Venkata, Thenral S. Geetha, Ramesh Menon, Sandeep Charugulla, Sakthivel Murugan, Ravi Gupta, Niraj Kumar, Atanu Biswas, Hrishikesh Kumar, Rupam Borgohain, Huw Morris, Vedam. L Ramprasad, Parkinson's Research Alliance of India (PRAI) and the Global Parkinson's Genetic Program (GP2)   +31 more
wiley   +1 more source

Apraxia for differentiating Alzheimer’s disease from subcortical vascular dementia and mild cognitive impairment

Neuropsychiatric Disease and Treatment, 2013
Serhat Ozkan,1 Demet Ozbabalik Adapinar,1 Nese Tuncer Elmaci,2 Didem Arslantas31Department of Neurology, Eskisehir Osmangazi University Medical Faculty, Eskisehir, Turkey; 2Department of Neurology, Marmara University Medical Faculty, Istanbul, Turkey ...
Ozkan S, Adapinar DO, Elmaci NT, Arslantas D   +3 more
doaj  

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

An Explorative Note on Apraxia Tests

Frontiers in Neurology, 2018
Apraxia is stated independent of primary motor disorders. However, patient groups suffering from stroke or dementia can reveal motor impairments. In this study we examined the dependence of apraxia tests of imitation and pantomime on a latent motor ...
Philipp Gulde, Katharina Leippold, Alan Armstrong, Sarah Kohl, Timo Grimmer, Janine Diehl-Schmid, Joachim Hermsdörfer   +6 more
doaj   +1 more source