Jun Li

发表

PMP22 expression in dermal nerve myelin from patients with CMT1A.

I. Katona, Xingyao Wu, M. Shy, 2009, Brain : a journal of neurology.

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

J. Lupski, K. Szigeti, M. Meisler, 2007, Nature.

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

M. Meisler, M. Shy, Jun Li, 2008, Brain : a journal of neurology.

Electromyography of sternocleidomastoid muscle in ALS: A prospective study

M. Bromberg, J. Petajan, Jun Li, 2002, Muscle & nerve.

Assessing non-Mendelian Inheritance in Inherited Axonopathies

Dana M. Bis-Brewer, H. Hakonarson, R. Finkel, 2020, Genetics in Medicine.

Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration

Yunhong Bai, M. Shy, M. Grandis, 2006, The Journal of comparative neurology.

29 – Myelin Protein Zero and CMT1B: A Tale of Two Phenotypes

M. Shy, J. Kamholz, Jun Li, 2007 .

Other Hereditary Neuropathies

Jun Li, 2005 .

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

R. Finkel, S. Züchner, F. Muntoni, 2020, Neurology.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

R. Finkel, F. Muntoni, D. Herrmann, 2015, Brain : a journal of neurology.

Loss‐of‐function phenotype of hereditary neuropathy with liability to pressure palsies

M. Shy, Jun Li, K. Krajewski, 2004, Muscle & nerve.

Hereditary neuropathy with liability to pressure palsy

R. Lewis, M. Shy, Jun Li, 2002, Neurology.

Significant differences in proton trimethyl ammonium signals between human gastrocnemius and soleus muscle

Jiani Hu, Q. Jiang, Yimin Shen, 2004, Journal of magnetic resonance imaging : JMRI.

Fatigue in patients with hereditary neuropathy with liability to pressure palsies

Jun Li, Yongsheng Chen, Nora E Fritz, 2020, Annals of clinical and translational neurology.

Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves.

J. Svaren, John J. Moran, Jun Li, 2020, Human molecular genetics.

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.

M. Shy, Jun Li, G. Nicholson, 2007, Archives of neurology.

Asymmetric flaccid paralysis: A neuromuscular presentation of West Nile virus infection

J. Loeb, M. Shy, Jun Li, 2003, Annals of neurology.

Inherited Peripheral Neuropathies: Charcot–Marie–Tooth Disease

M. Shy, Jun Li, Richard F. Lewis, 2005 .

PMP 22 expression in dermal nerve myelin from patients with CMT 1 A

I. Katona, Xingyao Wu, M. Shy, 2009 .

Hereditary neuropathy with liability to pressure palsy: The electrophysiology fits the name

R. Lewis, M. Shy, Jun Li, 2002 .

Candidate imaging biomarkers for PMP22 ‐related inherited neuropathies

R. Dortch, Jun Li, Alison R Roth, 2022, Annals of clinical and translational neurology.

The motoneurone and its muscle fibres Daniel Kernell 2006

Jun Li, 2007, Journal of the Neurological Sciences.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

R. Lewis, R. Horvath, D. Herrmann, 2017, Neurology.

Charcot–Marie–Tooth Disease

Jun Li, Richard A. Lewis, 2003 .

A 39-Year-Old Woman with Intermittent Bilateral Foot and Leg Pain since Childhood

Jun Li, R. Castoro, Lan Zhou, 2019, A Case-Based Guide to Neuromuscular Pathology.

Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.

Yunhong Bai, M. Shy, Jun Li, 2006, Archives of neurology.

Conduction Block in PMP22 Deficiency

I. Katona, U. Suter, Yunhong Bai, 2010, The Journal of Neuroscience.

Quantitative assessment of motor impairment and surgical outcome in Hirayama disease with proximal involvement using motor unit number index

Jun Li, C. Zheng, Yu Zhu, 2021, Neurophysiologie Clinique.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

F. Baas, S. Züchner, G. Beecham, 2019, Annals of neurology.

SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology

Christopher P. Lee, Jun Li, R. Castoro, 2018, Neurology: Genetics.

T118M PMP22 mutation causes partial loss of function and HNPP‐like neuropathy

J. Lupski, K. Szigeti, M. Scavina, 2006, Annals of neurology.

Phenotypic clustering in MPZ mutations.

Richard A Lewis, Jun Li, Michael E Shy, 2004, Brain : a journal of neurology.

Demyelination in hereditary sensory neuropathy type‐1C

Jun Li, Yongsheng Chen, K. Maddipati, 2020, Annals of clinical and translational neurology.

Recovery and prognosticators of paralysis in West Nile virus infection

Jun Li, W. Kupsky, N. J. Cao, 2005, Journal of the Neurological Sciences.

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

R. Finkel, S. Züchner, F. Muntoni, 2020, Brain : a journal of neurology.

Stiffness, spasticity, or both: a case report of stiff-person syndrome.

M. Bromberg, Jun Li, 2002, Journal of clinical neuromuscular disease.

Motor unit number estimate of distal and proximal muscles in Charcot–Marie–Tooth disease

Richard A Lewis, Jun Li, Michael E Shy, 2003, Muscle & nerve.

Morphometric analysis of peripheral myelinated nerve fibers through deep learning

Bo Hu, Daniel Moiseev, Jun Li, 2018, Journal of the peripheral nervous system : JPNS.

Charcot-Marie-Tooth Neuropathy Type 4J

Jun Li, 2013 .

Length‐dependent MRI of hereditary neuropathy with liability to pressure palsies

Hakmook Kang, R. Dortch, Jun Li, 2019, Annals of clinical and translational neurology.

Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family

Jun Li, Lev Prasov, Jason M. L. Miller, 2023, Genes.

Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.

A. Schenone, Xingyao Wu, M. Shy, 2005, Brain : a journal of neurology.

Neuropathy in a human without the PMP22 gene.

I. Katona, U. Suter, M. Shy, 2011, Archives of neurology.

Hypothesis of double polarization

Jun Li, 2008, Journal of the Neurological Sciences.

Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures.

Jun Li, A. Ly, M. Kramer, 2016, American journal of orthopedics.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

F. Baas, S. Züchner, G. Beecham, 2019, Journal of neuromuscular diseases.

A case of Hashimoto's encephalopathy: Association with sensory ganglionopathy

Jun Li, M. Gorman, A. Tselis, 2005, Journal of the Neurological Sciences.

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

A Rarely Concerned Magnetic Resonance Image Sign of Spinal Nerve Root Hypertrophy in Type 1A Charcot-Marie-Tooth Disease

Jun Li, Y. Piao, Yu-ping Wang, 2017, Chinese medical journal.