Results 101 to 110 of about 54,392 (259)
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 +6 more
wiley +1 more source
Genetic Etiologies of Dystonia with Anarthria/Aphonia
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey +7 more
wiley +1 more source
Autosomal Recessive Primary Microcephaly (MCPH): An Update
, 2017 Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability ...
Angela Kaindl +2 more
core +1 more source
Autosomal dominant microcephaly.
, 1983 Haslam in his reply to a letter presenting a new family with autosomal dominant microcephaly, affirms that the number of patients with this anomaly is increasing and suggests caution in making the diagnosis.
CLEMENTI, MAURIZIO, Audino G., Tenconi R
core
Bivariate Association between Microcephaly and Subject Characteristic
, 2017 Bivariate Association between Microcephaly and Subject ...
Joshua Astern (3594740) +6 more
core +1 more source
Movement Disorders, EarlyView.Abstract Background Molecular testing for genetic movement disorders (MDs) increasingly relies on exome‐ or genome‐based virtual gene panels. In the absence of consensus guidelines, MD panel design remains heterogeneous across laboratories, with international variation in panel configuration and gene content.
Teodora Barbarii +8 more
wiley +1 more source
Severe congenital microcephaly with AP4M1 mutation, a case report
BMC Medical Genetics, 2017 Background Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Sarah Duerinckx +6 more
doaj +1 more source
Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities
Prenatal Diagnosis, EarlyView.ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock +5 more
wiley +1 more source