Jun Li

发表

Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases

J. Gore, Seth A. Smith, R. Dortch, 2014, Neurology.

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

C. Blackstone, S. Züchner, A. Dürr, 2015, Human molecular genetics.

Fig4 deficiency: A newly emerged lysosomal storage disorder?

Jun Li, C. Martyn, 2013, Progress in Neurobiology.

A novel missense mutation of CMT2P alters transcription machinery

S. Zuchner, Jun Li, Bo Hu, 2016, Annals of neurology.

Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP

Mark Ellisman, W. Möbius, G. Sosinsky, 2016, PLoS genetics.

Abnormal junctions and permeability of myelin in PMP22‐deficient nerves

U. Suter, Jiasong Guo, B. Imhof, 2014, Annals of Neurology.

The PMP22 Gene and Its Related Diseases

Jiasong Guo, C. Natarajan, Brett Parker, 2012, Molecular Neurobiology.

Dietary selenium protects against selected signs of aging and methylmercury exposure.

M. C. Newland, K. Banna, M. Reed, 2010, Neurotoxicology.

A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes

R. Dortch, Jun Li, R. Castoro, 2017, European journal of neurology.

Myelin abnormality in Charcot–Marie–Tooth type 4J recapitulates features of acquired demyelination

M. Shy, S. Feely, C. Siskind, 2018, Annals of neurology.

Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice

Lily Wang, Yunhong Bai, Jiasong Guo, 2012, Journal of the Neurological Sciences.

Fig4 Expression in the Rodent Nervous System and Its Potential Role in Preventing Abnormal Lysosomal Accumulation

Lily Wang, Jiasong Guo, Jin‐lang Wu, 2012, Journal of neuropathology and experimental neurology.

Charcot Marie Tooth disease type 4J with complex central nervous system features

C. Siskind, J. Day, Pravin Khemani, 2018, Annals of clinical and translational neurology.

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

J. Liepert, C. Blackstone, S. Züchner, 2016, Neurology: Genetics.

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

J. Lupski, V. Drory, J. Higgins, 2014, American journal of human genetics.

Inherited Neuropathies

Jun Li, 2012, Seminars in Neurology.

Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.

I. Katona, R. Lewis, M. Shy, 2009, Brain : a journal of neurology.

Caveats in the Established Understanding of CMT1A

Jun Li, 2017, Annals of clinical and translational neurology.

Molecular regulators of nerve conduction — Lessons from inherited neuropathies and rodent genetic models

Jun Li, 2015, Experimental Neurology.

Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology

C. Sanders, B. Carter, C. Vanoye, 2019, The Journal of Biological Chemistry.

Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells

C. Vanoye, Yuan-Shan Zeng, Jun Li, 2015, The Journal of Neuroscience.

Distinct pathogenic processes between Fig4‐deficient motor and sensory neurons

I. Katona, M. Shy, Jiasong Guo, 2011, The European journal of neuroscience.

The PMP22 Gene and Its Related Diseases

Jiasong Guo, C. Natarajan, Brett Parker, 2013, Molecular Neurobiology.

Peripheral myelin protein 22 alters membrane architecture

Kathleen F. Mittendorf, C. Sanders, E. Wright, 2017, Science Advances.

Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22

Kathleen F. Mittendorf, C. Sanders, B. Carter, 2015, Journal of the American Chemical Society.

Structure and expression of a novel compact myelin protein - small VCP-interacting protein (SVIP).

C. Sanders, M. Voehler, Dungeng Peng, 2013, Biochemical and biophysical research communications.

Biophysical characterization of interactions between the C-termini of peripheral nerve claudins and the PDZ₁ domain of zonula occludens.

C. Sanders, Yang Zhang, M. Voehler, 2015, Biochemical and biophysical research communications.

N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy

Liqiang Gu, Yi Yang, Jun Li, 2016, Journal of Neurological Sciences.

A unified structural model of the mammalian translocator protein (TSPO)

C. Sanders, J. Meiler, Yan Xia, 2019, Journal of Biomolecular NMR.

Evaluation of dermal myelinated nerve fibers in diabetes mellitus

Yaping Shi, Lily Wang, A. Peltier, 2013, Journal of the peripheral nervous system : JPNS.

Detection of Copy Number Variation by SNP-Allelotyping

N. Schnetz-Boutaud, Xingyao Wu, M. Shy, 2015, Journal of neurogenetics.

Evaluating dermal myelinated nerve fibers in skin biopsy

A. Peltier, M. Myers, Jun Li, 2013, Muscle & nerve.