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The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome

open access: yesClinical Genetics, Volume 108, Issue 2, Page 168-178, August 2025.
Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Ilia Valentin   +4 more
wiley   +1 more source

Upbeat nystagmus: a clinical and pathophysiological review. [PDF]

open access: yesFront Neurol
Marcelli V   +7 more
europepmc   +1 more source

Horizontal gaze-evoked nystagmus in pontine gaze palsy: patterns and anatomical correlates. [PDF]

open access: yesFront Neurol
Choi SY   +9 more
europepmc   +1 more source

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