Mark E. Pennesi

SCA7 Knockin Mice Model Human SCA7 and Reveal Gradual Accumulation of Mutant Ataxin-7 in Neurons and Abnormalities in Short-Term Plasticity

Seung-Yun Yoo, Mark E. Pennesi, Edwin J. Weeber et al. · Neuron · 2003 · 231 citations · Full text

Life Sciences, Genetics, Neuroscience +9

Molecular and Clinical Findings in Patients With Knobloch Syndrome

Sarah Hull, Gavin Arno, Cristy A. Ku et al. · JAMA Ophthalmology · 2016 · 66 citations · Full text

Medicine, Molecular Genetics, Ophthalmology +17

Specific Alleles of <i>CLN7</i> / <i>MFSD8</i> , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Kamron N. Khan, Mohammed E. El‐Asrag, Cristy A. Ku et al. · Investigative Ophthalmology & Visual Science · 2017 · 52 citations · Full text

Medicine, Genetics, Ophthalmology +17

Optical Coherence Tomography Split-Spectrum Amplitude-Decorrelation Optoretinography Detects Early Central Cone Photoreceptor Dysfunction in Retinal Dystrophies

Nida Wongchaisuwat, Alessia Amato, Paul Yang et al. · Translational Vision Science & Technology · 2024 · 14 citations · Full text

Medicine, Ophthalmology, Vision Science +17