Results 171 to 180 of about 178,919 (265)

Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law, Shanie Desrosiers, Sinthiya Sivanesan, Helga Tonkov, Frédéric Charron, Frédéric Bretzner, Myriam Srour, Dorothy Barthélemy   +7 more
wiley   +1 more source

Autosomal Dominant Cutis Laxa in an Adolescent Male: A Rare Clinical Entity. [PDF]

Cureus
Hassan M, Khan S, Saeed Z, Golani S, Talat H.   +4 more
europepmc   +1 more source

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

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review. [PDF]

Glob Med Genet
Ciantar N, Said E.
europepmc   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Autosomal dominant inheritance of a heterozygous mutation in HTRA1: A case report and literature review. [PDF]

Medicine (Baltimore)
Shu J, Li J.
europepmc   +1 more source

Characteristic MRI pattern in <i>LMNB1</i>-related autosomal dominant leukodystrophy: a case report. [PDF]

Front Neurosci
Wang YX, Du T, Yang CL, Zhang M, Duan RS.   +4 more
europepmc   +1 more source

Accelerated long-term forgetting as a predictor of clinical onset in presymptomatic autosomal dominant Alzheimer's disease. [PDF]

J Neurol Neurosurg Psychiatry
Magill N, Tank R, Ferguson D, Alston D, O'Connor A, Rice H, Lu K, Crutch S, Fox NC, Weston PS.   +9 more
europepmc   +1 more source

Two Entities, One Patient

JEADV Clinical Practice, EarlyView.
Wael Zaina, Tomer Cohen, Judit Krausz, Michael Ziv, Roni P. Dodiuk‐Gad   +4 more
wiley   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source