A scheme for the cortical control of saccadic eye movements is proposed based partly on
defects revealed by specific test paradigms in human with discrete lesions. Three different …

1. We used single-pulse transcranial magnetic stimulation (TMS) to explore the temporal
organization of the cortical control of memory-guided saccades in eight humans. The …

Background Homozygous mutations in WWOX were reported in eight individuals of two
families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with …

Recent studies in the monkey suggest that the subthalamic nucleus (STN) is involved in
control of eye movement, yet its functional significance in humans is unknown. Saccadic eye …

CACNA1A pathogenic mutations are involved in various neurological phenotypes including
episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine …

To study the temporal organisation of memory-guided saccade control we used single-pulse
transcranial magnetic stimulation (TMS) over the left posterior parietal (PPC) and prefrontal …

Sequences of ocular saccades were studied in 8 patients with Parkinson's disease, with
(ie,“on”) and without (ie,“off”) levodopa treatment. The amplitude of single saccades was …

Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in
the first step in the conversion of proline to glutamate. Diverse phenotypes were described in …

Pathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder
with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously …

BACKGROUND: Usher syndrome type 1 needs to be diagnosed at early age in order to
timely manage speech therapy, cochlear implantation, and genetic counseling. Few data are …