Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan—neurodevelopment, channel, and signaling dysfunction
E Menozzi, B Balint, A Latorre, EM Valente… - Movement …, 2019 - Wiley Online Library
Myoclonus‐dystonia is a clinical syndrome characterized by a typical childhood onset of
myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric …
myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric …
Mood and emotional disorders associated with parkinsonism, Huntington disease, and other movement disorders
AD Bono, JT Twaite, D Krch, DL McCabe… - Handbook of Clinical …, 2021 - Elsevier
This chapter provides a review of mood, emotional disorders, and emotion processing
deficits associated with diseases that cause movement disorders, including Parkinson's …
deficits associated with diseases that cause movement disorders, including Parkinson's …
Benchmarking post-GWAS analysis tools in major depression: Challenges and implications
Our knowledge of complex disorders has increased in the last years thanks to the
identification of genetic variants (GVs) significantly associated with disease phenotypes by …
identification of genetic variants (GVs) significantly associated with disease phenotypes by …
[HTML][HTML] ε-sarcoglycan myoclonus-dystonia—overview of neurophysiological, behavioral, and imaging characteristics
F Hamami, S Gerkensmeier, A Münchau… - …, 2024 - frontierspartnerships.org
Myoclonus-Dystonia is a rare, neurological movement disorder, clinically characterized by
myoclonic jerks and dystonic symptoms, such as cervical dystonia and writer's cramp …
myoclonic jerks and dystonic symptoms, such as cervical dystonia and writer's cramp …
[HTML][HTML] A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia
AS Higinbotham, SD DeBrosse… - Tremor and Other …, 2023 - ncbi.nlm.nih.gov
Background: Epsilon-sarcoglycan (SGCE) myoclonus-dystonia is autosomal dominant (AD)
with reduced penetrance due to maternal imprinting 95% of the time. Patients may lack …
with reduced penetrance due to maternal imprinting 95% of the time. Patients may lack …
Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome
L Rachad, H El Otmani, A Karkar, B El Moutawakil… - Neuroscience …, 2019 - Elsevier
Myoclonus-Dystonia (MD) is a rare autosomal-dominant movement disorder characterized
by myoclonic jerks in combination with dystonia and psychiatric features. Mutations in the …
by myoclonic jerks in combination with dystonia and psychiatric features. Mutations in the …
Use of technological platforms and big data to enhance phenotypic understanding in adult-onset primary dystonia
G Bailey - 2022 - orca.cardiff.ac.uk
In this thesis, I make use of technological platforms in order to evaluate epidemiological
characteristics and further our understanding of the non-motor symptoms in dystonia. I have …
characteristics and further our understanding of the non-motor symptoms in dystonia. I have …
Клинико-психологические аспекты миоклонуса в различные возрастные периоды
ТА Литовченко, ОЮ Сухоносова - Психиатрия, психотерапия и …, 2021 - elibrary.ru
Миоклонус является проявлением многих заболеваний, отличающихся как
этиологически, так и патогенетически. Достаточно высокая распространенность …
этиологически, так и патогенетически. Достаточно высокая распространенность …
Genetisch determinierte Dystonien
N Brüggemann, K Lohmann, S Paus… - …, 2018 - thieme-connect.com
Dystonien sind durch anhaltende oder intermittierende Muskelkontraktionen
gekennzeichnet, die zu abnormen, häufig repetitiven Bewegungen verschiedener …
gekennzeichnet, die zu abnormen, häufig repetitiven Bewegungen verschiedener …
Investigating the Relationship and Potential Interactions of CD108131 and SGCE
R Jamieson-Williams - 2019 - ruor.uottawa.ca
Myoclonus dystonia (MD) is a rare autosomal-dominant combined dystonia movement
disorder characterised by quick, involuntary muscle jerks (myoclonus) paired with sustained …
disorder characterised by quick, involuntary muscle jerks (myoclonus) paired with sustained …