Peter B Kang,
Courtesy Professor Of Pediatrics
Teaching Profile
Courses Taught
2018
MDT7400 Elect Top/Pediatrics
2018
MDC7400 Pediatric Clerkship
2017
BMS4905 Medical Sciences Senior Research
2016
GMS7794 Neuroscience Seminar
Research Profile
Open Researcher and Contributor ID (ORCID)
Publications
2024
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.
Neurology. Clinical practice.
14(4)
[DOI] 10.1212/CPJ.0000000000200309.
[PMID] 38808024.
2024
Comparative analysis of patients with new onset refractory status epilepticus preceded by fever (febrile infection-related epilepsy syndrome) versus without prior fever: An interim analysis.
Epilepsia.
65(6):e87-e96
[DOI] 10.1111/epi.17988.
[PMID] 38625055.
2024
Diagnoses of muscular dystrophy in a veterans health system.
Muscle & nerve.
70(2):273-278
[DOI] 10.1002/mus.28112.
[PMID] 38783566.
2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
medRxiv : the preprint server for health sciences.
[DOI] 10.1101/2024.02.11.24302646.
[PMID] 38405995.
2024
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Muscle & nerve.
[DOI] 10.1002/mus.28214.
[PMID] 39072769.
2024
Effects of HMGCR deficiency on skeletal muscle development.
bioRxiv : the preprint server for biology.
[DOI] 10.1101/2024.05.06.591934.
[PMID] 38903061.
2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
bioRxiv : the preprint server for biology.
[DOI] 10.1101/2024.05.03.592369.
[PMID] 38765987.
2024
Skipping, Steroids, and Genes: The First 7 Therapies for Duchenne Muscular Dystrophy.
Neurology.
102(5)
[DOI] 10.1212/WNL.0000000000209210.
[PMID] 38335475.
2024
Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD.
42:36-42
[DOI] 10.1016/j.nmd.2024.07.003.
[PMID] 39121631.
2024
Trends in management of patients with new-onset refractory status epilepticus (NORSE) from 2016 to 2023: An interim analysis.
Epilepsia.
65(8):e148-e155
[DOI] 10.1111/epi.18014.
[PMID] 38837761.
2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
American journal of human genetics.
110(6):989-997
[DOI] 10.1016/j.ajhg.2023.04.006.
[PMID] 37167966.
2023
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Molecular genetics and metabolism.
138(3)
[DOI] 10.1016/j.ymgme.2023.107525.
[PMID] 36796138.
2023
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Neurology. Genetics.
9(6)
[DOI] 10.1212/NXG.0000000000200113.
[PMID] 38045992.
2023
Neuroinflammation and amyloid deposition in the progression of mixed Alzheimer and vascular dementia.
NeuroImage. Clinical.
38
[DOI] 10.1016/j.nicl.2023.103373.
[PMID] 36933348.
2023
One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle.
Journal of translational medicine.
21(1)
[DOI] 10.1186/s12967-023-04626-1.
[PMID] 37875924.
2023
Pediatric Neuromuscular Diseases.
Pediatric neurology.
149:1-14
[DOI] 10.1016/j.pediatrneurol.2023.08.034.
[PMID] 37757659.
2023
Peripheral neuropathies associated with DNA repair disorders.
Muscle & nerve.
67(2):101-110
[DOI] 10.1002/mus.27721.
[PMID] 36190439.
2023
Teaching NeuroImage: Severe Amyloid-Related Imaging Abnormalities After Anti-β-Amyloid Monoclonal Antibody Treatment.
Neurology.
101(23):1079-1080
[DOI] 10.1212/WNL.0000000000207927.
[PMID] 37816643.
2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatric neurology.
141:79-86
[DOI] 10.1016/j.pediatrneurol.2023.01.011.
[PMID] 36791574.
2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta neuropathologica.
145(4):479-496
[DOI] 10.1007/s00401-023-02551-7.
[PMID] 36799992.
2022
Can We Generalize Key Principles in the Care of Rare Diseases? The Case for Adrenoleukodystrophy.
Neurology.
99(21):929-930
[DOI] 10.1212/WNL.0000000000201400.
[PMID] 36175146.
2022
Clinical, electrophysiological, and imaging findings in childhood brachial plexus injury.
Developmental medicine and child neurology.
64(10):1254-1261
[DOI] 10.1111/dmcn.15255.
[PMID] 35524644.
2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Annals of clinical and translational neurology.
9(8):1302-1309
[DOI] 10.1002/acn3.51612.
[PMID] 35734998.
2022
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA.
327(15):1456-1468
[DOI] 10.1001/jama.2022.4315.
[PMID] 35381069.
2022
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
European journal of human genetics : EJHG.
30(4):439-449
[DOI] 10.1038/s41431-021-01033-2.
[PMID] 35013551.
2022
Oxygen Metabolic Stress and White Matter Injury in Patients With Cerebral Small Vessel Disease.
Stroke.
53(5):1570-1579
[DOI] 10.1161/STROKEAHA.121.035674.
[PMID] 34886686.
2022
Patient reported quality of life in limb girdle muscular dystrophy.
Neuromuscular disorders : NMD.
32(1):57-64
[DOI] 10.1016/j.nmd.2021.11.002.
[PMID] 34961728.
2022
The Notch signaling pathway in skeletal muscle health and disease.
Muscle & nerve.
66(5):530-544
[DOI] 10.1002/mus.27684.
[PMID] 35968817.
2021
A form of muscular dystrophy associated with pathogenic variants in JAG2.
American journal of human genetics.
108(6)
[DOI] 10.1016/j.ajhg.2021.04.018.
[PMID] 34087166.
2021
A form of muscular dystrophy associated with pathogenic variants in JAG2.
American journal of human genetics.
108(5):840-856
[DOI] 10.1016/j.ajhg.2021.03.020.
[PMID] 33861953.
2021
An Opportune Time for Newborn Screening in Duchenne Muscular Dystrophy.
JAMA neurology.
78(8):901-902
[DOI] 10.1001/jamaneurol.2021.1782.
[PMID] 34152378.
2021
Growth charts in Cockayne syndrome type 1 and type 2.
European journal of medical genetics.
64(1)
[DOI] 10.1016/j.ejmg.2020.104105.
[PMID] 33227433.
2021
hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies.
Muscle & nerve.
63(6):928-940
[DOI] 10.1002/mus.27216.
[PMID] 33651408.
2021
Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty.
Muscle & nerve.
63(3):282-284
[DOI] 10.1002/mus.27160.
[PMID] 33382457.
2021
Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration.
FEBS open bio.
11(1):114-123
[DOI] 10.1002/2211-5463.13031.
[PMID] 33159715.
2021
Phenotypic implications of pathogenic variant types in Pompe disease.
Journal of human genetics.
66(11):1089-1099
[DOI] 10.1038/s10038-021-00935-9.
[PMID] 33972680.
2021
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Nature communications.
12(1)
[DOI] 10.1038/s41467-021-21279-0.
[PMID] 33602924.
2020
Child neurology in the 21st century: More than the sum of our RVUs.
Neurology.
94(2):75-82
[DOI] 10.1212/WNL.0000000000008784.
[PMID] 31874925.
2020
Emery-Dreifuss muscular dystrophy.
Muscle & nerve.
61(4):436-448
[DOI] 10.1002/mus.26782.
[PMID] 31840275.
2020
Ethical decision-making for children with neuromuscular disorders in the COVID-19 crisis.
Neurology.
95(6):260-265
[DOI] 10.1212/WNL.0000000000009936.
[PMID] 32482844.
2020
Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.
Neurology.
95(14):e1918-e1931
[DOI] 10.1212/WNL.0000000000010659.
[PMID] 32887784.
2020
Rituximab as Adjunct Maintenance Therapy for Refractory Juvenile Myasthenia Gravis.
Pediatric neurology.
111:40-43
[DOI] 10.1016/j.pediatrneurol.2020.07.002.
[PMID] 32951658.
2020
The End of the Beginning: The Journey to Molecular Therapies for Spinal Muscular Atrophy.
Pediatric neurology.
102:1-2
[DOI] 10.1016/j.pediatrneurol.2019.07.018.
[PMID] 31481328.
2020
The ties that bind: functional clusters in limb-girdle muscular dystrophy.
Skeletal muscle.
10(1)
[DOI] 10.1186/s13395-020-00240-7.
[PMID] 32727611.
2020
Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement.
Muscle & nerve.
61(2):143-155
[DOI] 10.1002/mus.26752.
[PMID] 31724199.
2019
AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome.
Human gene therapy.
30(2):139-154
[DOI] 10.1089/hum.2018.020.
[PMID] 30070157.
2019
AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome.
Molecular therapy. Methods & clinical development.
13:167-179
[DOI] 10.1016/j.omtm.2019.01.007.
[PMID] 30788385.
2019
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.
Molecular genetics & genomic medicine.
7(3)
[DOI] 10.1002/mgg3.552.
[PMID] 30688039.
2019
Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-TAZ Gene Delivery.
International journal of molecular sciences.
20(14)
[DOI] 10.3390/ijms20143416.
[PMID] 31336787.
2019
Intravenous Immunoglobulin as a Therapeutic Option for Mycoplasma pneumoniae Encephalitis.
Journal of child neurology.
34(11):687-691
[DOI] 10.1177/0883073819854854.
[PMID] 31185782.
2019
Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II.
Clinical imaging.
53:134-137
[DOI] 10.1016/j.clinimag.2018.09.017.
[PMID] 30340076.
2019
Neurodevelopmental outcomes at 9-14Â months gestational age after treatment of neonatal seizures due to brain injury.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery.
35(9):1571-1578
[DOI] 10.1007/s00381-019-04286-x.
[PMID] 31278442.
2019
Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.
Human molecular genetics.
28(14):2365-2377
[DOI] 10.1093/hmg/ddz064.
[PMID] 31267131.
2019
The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila.
FEBS letters.
593(7):680-696
[DOI] 10.1002/1873-3468.13348.
[PMID] 30802937.
2018
Dollars and antisense for Duchenne muscular dystrophy: Eteplirsen and dystrophin.
Neurology.
90(24):1091-1092
[DOI] 10.1212/WNL.0000000000005669.
[PMID] 29752302.
2018
Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence.
Pediatric neurology.
81:14-18
[DOI] 10.1016/j.pediatrneurol.2018.01.003.
[PMID] 29506771.
2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Physiological genomics.
50(11):929-939
[DOI] 10.1152/physiolgenomics.00036.2018.
[PMID] 30345904.
2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
American journal of human genetics.
102(5):858-873
[DOI] 10.1016/j.ajhg.2018.03.011.
[PMID] 29727687.
2017
A 42-Year-Old Man with AIDS and Multiple Incomplete Ring Enhancing Lesions.
Brain pathology (Zurich, Switzerland).
27(5):697-698
[DOI] 10.1111/bpa.12542.
[PMID] 28805005.
2017
Child Neurology Recruitment and Training: Views of Residents and Child Neurologists From the 2015 AAP/CNS Workforce Survey.
Pediatric neurology.
66:89-95
[DOI] 10.1016/j.pediatrneurol.2016.08.018.
[PMID] 27955837.
2017
Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.
Human molecular genetics.
26(15):2984-3000
[DOI] 10.1093/hmg/ddx189.
[PMID] 28498977.
2017
Electrophysiologic features of fibular neuropathy in childhood and adolescence.
Muscle & nerve.
55(5):693-697
[DOI] 10.1002/mus.25403.
[PMID] 27615598.
2017
Electrophysiologic features of ulnar neuropathy in childhood and adolescence.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology.
128(5):751-755
[DOI] 10.1016/j.clinph.2017.01.024.
[PMID] 28319875.
2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Science translational medicine.
9(386)
[DOI] 10.1126/scitranslmed.aal5209.
[PMID] 28424332.
2017
Reversible Rhombencephalitis in Neuro-Behçet’s Disease.
The Neurohospitalist.
7(3):148-149
[DOI] 10.1177/1941874416670070.
[PMID] 28634508.
2017
Teaching NeuroImages: Cerebral amyloid angiopathy-related inflammation presenting with isolated leptomeningitis.
Neurology.
89(6):e66-e67
[DOI] 10.1212/WNL.0000000000004218.
[PMID] 28784645.
2017
The role of thymectomy in the treatment of juvenile myasthenia gravis: a systematic review.
Pediatric surgery international.
33(6):683-694
[DOI] 10.1007/s00383-017-4086-3.
[PMID] 28401300.
2017
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Journal of human genetics.
62(2):243-252
[DOI] 10.1038/jhg.2016.116.
[PMID] 27708273.
2016
Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up.
Muscle & nerve.
54(4):681-9
[DOI] 10.1002/mus.25089.
[PMID] 26930423.
2016
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.
The Journal of clinical investigation.
126(11):4219-4236
[DOI] 10.1172/JCI85647.
[PMID] 27760045.
2016
Ethical issues in the evaluation of adults with suspected genetic neuromuscular disorders.
Muscle & nerve.
54(6):997-1006
[DOI] 10.1002/mus.25400.
[PMID] 27615030.
2016
Factors Associated with Acute and Chronic Hydrocephalus in Nonaneurysmal Subarachnoid Hemorrhage.
Neurocritical care.
24(1):104-9
[DOI] 10.1007/s12028-015-0152-7.
[PMID] 26136147.
2016
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Muscle & nerve.
54(4):690-5
[DOI] 10.1002/mus.25094.
[PMID] 26934379.
2016
Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents.
The Journal of pediatrics.
178:227-232
[DOI] 10.1016/j.jpeds.2016.07.040.
[PMID] 27567409.
2016
Neuropathic and Myopathic Pain.
Seminars in pediatric neurology.
23(3):242-247
[DOI] 10.1016/j.spen.2016.10.008.
[PMID] 27989332.
2016
Sleep Pathology in Creutzfeldt-Jakob Disease.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.
12(7):1033-9
[DOI] 10.5664/jcsm.5944.
[PMID] 27250807.
2016
The child neurology clinical workforce in 2015: Report of the AAP/CNS Joint Taskforce.
Neurology.
87(13):1384-92
[DOI] 10.1212/WNL.0000000000003147.
[PMID] 27566740.
2015
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
Molecular genetics & genomic medicine.
3(2):92-8
[DOI] 10.1002/mgg3.125.
[PMID] 25802879.
2015
Advances in Muscular Dystrophies.
JAMA neurology.
72(7):741-2
[DOI] 10.1001/jamaneurol.2014.4621.
[PMID] 25985443.
2015
Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Neurology.
84(13):1369-78
[DOI] 10.1212/WNL.0000000000001416.
[PMID] 25825463.
2015
Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
The Journal of clinical endocrinology and metabolism.
100(3):E473-7
[DOI] 10.1210/jc.2014-4107.
[PMID] 25559402.
2015
Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.
Human molecular genetics.
24(10):2966-84
[DOI] 10.1093/hmg/ddv035.
[PMID] 25652398.
2015
Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia.
PloS one.
10(1)
[DOI] 10.1371/journal.pone.0117104.
[PMID] 25629968.
2015
Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.
Muscle & nerve.
51(4):522-32
[DOI] 10.1002/mus.24346.
[PMID] 25056178.
2015
PLIN2 inhibits insulin-induced glucose uptake in myoblasts through the activation of the NLRP3 inflammasome.
International journal of molecular medicine.
36(3):839-44
[DOI] 10.3892/ijmm.2015.2276.
[PMID] 26166692.
2015
Teaching Video NeuroImages: Movement of a paralyzed arm with yawning.
Neurology.
84(16)
[DOI] 10.1212/WNL.0000000000001489.
[PMID] 25901063.
2014
Clinical Trial Readiness for Non-Ambulatory Boys and Men With Duchenne Muscular Dystrophy: 12 and 24 Month Follow-Up From the Mda-Dmd Network
Neuromuscular Disorders.
24(9-10):855-856
[DOI] 10.1016/j.nmd.2014.06.209.
2014
Clinicopathologic analysis of pituitary adenoma: a single institute experience.
Journal of Korean medical science.
29(3):405-10
[DOI] 10.3346/jkms.2014.29.3.405.
[PMID] 24616591.
2014
Comparison of plasmapheresis and intravenous immunoglobulin as maintenance therapies for juvenile myasthenia gravis.
JAMA neurology.
71(5):575-80
[PMID] 24590389.
2014
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.
Clinical epigenetics.
6(1)
[DOI] 10.1186/1868-7083-6-23.
[PMID] 25400706.
2014
MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.
The Journal of clinical investigation.
124(6):2651-67
[DOI] 10.1172/JCI73579.
[PMID] 24789910.
2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Human mutation.
35(7):779-90
[DOI] 10.1002/humu.22554.
[PMID] 24692096.
2014
Observational study of spinal muscular atrophy type I and implications for clinical trials.
Neurology.
83(9):810-7
[DOI] 10.1212/WNL.0000000000000741.
[PMID] 25080519.
2014
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
Human molecular genetics.
23(21):5781-92
[DOI] 10.1093/hmg/ddu296.
[PMID] 24925318.
2014
Referral and diagnostic trends in pediatric electromyography in the molecular era.
Muscle & nerve.
50(2):244-9
[DOI] 10.1002/mus.24152.
[PMID] 24375325.
2014
Reply: To PMID 23893312.
Muscle & nerve.
50(3):458-9
[DOI] 10.1002/mus.24317.
[PMID] 24935909.
2014
Silencing of drpr leads to muscle and brain degeneration in adult Drosophila.
The American journal of pathology.
184(10):2653-61
[DOI] 10.1016/j.ajpath.2014.06.018.
[PMID] 25111228.
2014
The motor neuron response to SMN1 deficiency in spinal muscular atrophy.
Muscle & nerve.
49(5):636-44
[DOI] 10.1002/mus.23967.
[PMID] 23893312.
2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Brain : a journal of neurology.
136(Pt 2):522-35
[DOI] 10.1093/brain/aws345.
[PMID] 23378218.
2013
Beyond the gowers sign: measuring outcomes in Duchenne muscular dystrophy.
Muscle & nerve.
48(3):315-7
[DOI] 10.1002/mus.23984.
[PMID] 24038058.
2013
Childhood chronic inflammatory demyelinating polyradiculoneuropathy: combined analysis of a large cohort and eleven published series.
Neuromuscular disorders : NMD.
23(2):103-11
[DOI] 10.1016/j.nmd.2012.09.008.
[PMID] 23140945.
2013
Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities.
Muscle & nerve.
47(4):488-92
[DOI] 10.1002/mus.23622.
[PMID] 23460299.
2013
Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.
FEBS letters.
587(18):2952-7
[DOI] 10.1016/j.febslet.2013.08.002.
[PMID] 23954233.
2013
Ethical issues in neurogenetic disorders.
Handbook of clinical neurology.
118:265-76
[DOI] 10.1016/B978-0-444-53501-6.00022-6.
[PMID] 24182384.
2013
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
Neuromuscular disorders : NMD.
23(12):975-80
[DOI] 10.1016/j.nmd.2013.08.009.
[PMID] 24128691.
2013
MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation.
Cell death and differentiation.
20(9):1194-208
[DOI] 10.1038/cdd.2013.62.
[PMID] 23764775.
2013
Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network.
Neuromuscular disorders : NMD.
23(7):529-39
[DOI] 10.1016/j.nmd.2013.04.005.
[PMID] 23726376.
2013
Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.
PloS one.
8(8)
[DOI] 10.1371/journal.pone.0073638.
[PMID] 23977390.
2013
Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy.
Therapeutic advances in neurological disorders.
6(3):147-60
[DOI] 10.1177/1756285612472386.
[PMID] 23634188.
2013
The new frontier of genetically targeted therapies for muscle disease.
Continuum (Minneapolis, Minn.).
19(6 Muscle Disease):1698-702
[DOI] 10.1212/01.CON.0000440666.79792.84.
[PMID] 24305454.
2013
Update on juvenile myasthenia gravis.
Current opinion in pediatrics.
25(6):694-700
[DOI] 10.1097/MOP.0b013e328365ad16.
[PMID] 24141560.
2012
Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.
Breast cancer research : BCR.
14(2)
[PMID] 22507745.
2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Human mutation.
33(6):949-59
[DOI] 10.1002/humu.22067.
[PMID] 22396310.
2012
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Neurogenetics.
13(2):115-24
[DOI] 10.1007/s10048-012-0315-z.
[PMID] 22371254.
2012
Prospective cohort study of spinal muscular atrophy types 2 and 3.
Neurology.
79(18):1889-97
[DOI] 10.1212/WNL.0b013e318271f7e4.
[PMID] 23077013.
2012
Rapid reversal of uremic neuropathy following renal transplantation in an adolescent.
Pediatric transplantation.
16(7):E296-300
[DOI] 10.1111/j.1399-3046.2011.01630.x.
[PMID] 22188489.
2012
The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years.
Pediatric neurology.
47(2):97-100
[DOI] 10.1016/j.pediatrneurol.2012.05.003.
[PMID] 22759684.
2012
Update on the genetics of limb girdle muscular dystrophy.
Seminars in pediatric neurology.
19(4):211-8
[DOI] 10.1016/j.spen.2012.09.008.
[PMID] 23245554.
2011
Autoimmune neuromuscular disorders in childhood.
Current treatment options in neurology.
13(6):590-607
[DOI] 10.1007/s11940-011-0146-5.
[PMID] 21912840.
2011
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
BMC medical genetics.
12
[DOI] 10.1186/1471-2350-12-87.
[PMID] 21708040.
2011
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.
Archives of neurology.
68(6):779-86
[DOI] 10.1001/archneurol.2010.373.
[PMID] 21320981.
2011
Presymptomatic and early symptomatic genetic testing.
Continuum (Minneapolis, Minn.).
17(2 Neurogenetics):343-6
[DOI] 10.1212/01.CON.0000396969.13188.0d.
[PMID] 22810824.
2011
Regulation of DMD pathology by an ankyrin-encoded miRNA.
Skeletal muscle.
1
[DOI] 10.1186/2044-5040-1-27.
[PMID] 21824387.
2011
Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy.
Pediatrics.
127(1):e132-6
[DOI] 10.1542/peds.2010-0929.
[PMID] 21149430.
2011
The struggle to model muscular dystrophy.
Muscle & nerve.
44(2):157-9
[DOI] 10.1002/mus.22124.
[PMID] 21660989.
2010
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Neurogenetics.
11(4):449-55
[DOI] 10.1007/s10048-010-0250-9.
[PMID] 20623375.
2010
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
Journal of inherited metabolic disease.
33 Suppl 3:S83-90
[DOI] 10.1007/s10545-009-9026-5.
[PMID] 20058079.
2010
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.
Muscle & nerve.
41(6):746-50
[DOI] 10.1002/mus.21702.
[PMID] 20513101.
2010
Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families.
Breast cancer research and treatment.
124(2):579-84
[DOI] 10.1007/s10549-010-1018-5.
[PMID] 20617377.
2010
Novel MPZ mutations and congenital hypomyelinating neuropathy.
Neuromuscular disorders : NMD.
20(11):725-9
[DOI] 10.1016/j.nmd.2010.06.004.
[PMID] 20621479.
2009
Assessing a potential risk factor for enamel fluorosis: a preliminary evaluation of fluoride content in infant formulas.
Journal of the American Dental Association (1939).
140(10):1228-36
[PMID] 19797552.
2009
Congenital myasthenic syndrome with episodic apnea.
Pediatric neurology.
41(1):42-5
[DOI] 10.1016/j.pediatrneurol.2009.02.017.
[PMID] 19520274.
2009
Exercise-induced expression of VEGF and salvation of myocardium in the early stage of myocardial infarction.
American journal of physiology. Heart and circulatory physiology.
296(2):H389-95
[DOI] 10.1152/ajpheart.01393.2007.
[PMID] 19060119.
2009
Juvenile myasthenia gravis.
Muscle & nerve.
39(4):423-31
[DOI] 10.1002/mus.21195.
[PMID] 19229875.
2009
Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations.
Muscle & nerve.
40(5):860-3
[DOI] 10.1002/mus.21401.
[PMID] 19645058.
2008
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.
Journal of child neurology.
23(3):349-52
[DOI] 10.1177/0883073807309248.
[PMID] 18230843.
2008
Child neurology: chronic inflammatory demyelinating polyradiculoneuropathy in children.
Neurology.
71(23):e74-8
[DOI] 10.1212/01.wnl.0000336646.91734.b1.
[PMID] 19047554.
2008
Identification of Mycobacterium tuberculosis clinical isolates with altered phagocytosis by human macrophages due to a truncated lipoarabinomannan.
The Journal of biological chemistry.
283(46):31417-28
[DOI] 10.1074/jbc.M806350200.
[PMID] 18784076.
2008
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
Experimental neurology.
211(1):115-27
[DOI] 10.1016/j.expneurol.2008.01.010.
[PMID] 18316077.
2008
Response of motor complications in Cockayne syndrome to carbidopa-levodopa.
Archives of neurology.
65(8):1117-21
[DOI] 10.1001/archneur.65.8.1117.
[PMID] 18695064.
2007
Cardiac electrophysiological characteristics of the mdx ( 5cv ) mouse model of Duchenne muscular dystrophy.
Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing.
20(1-2):1-7
[PMID] 17940855.
2007
Clinical trials in spinal muscular atrophy.
Current opinion in pediatrics.
19(6):675-9
[PMID] 18025935.
2007
Distinctive patterns of microRNA expression in primary muscular disorders.
Proceedings of the National Academy of Sciences of the United States of America.
104(43):17016-21
[PMID] 17942673.
2007
LGMD2I in a North American population.
BMC musculoskeletal disorders.
8
[PMID] 18036232.
2007
The immuno cross-reactivity of gutta percha points.
Dental materials : official publication of the Academy of Dental Materials.
23(3):380-4
[PMID] 16533519.
2006
A novel mutation in two families with limb-girdle muscular dystrophy type 2C.
Neurology.
67(1):167-9
[PMID] 16832103.
2006
Atypical presentations of spinal muscular atrophy type III (Kugelberg-Welander disease).
Neuromuscular disorders : NMD.
16(8):492-4
[PMID] 16797181.
2006
Surfactant protein D increases fusion of Mycobacterium tuberculosis-containing phagosomes with lysosomes in human macrophages.
Infection and immunity.
74(12):7005-9
[PMID] 17030585.
2006
Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes.
BMC musculoskeletal disorders.
7
[PMID] 16522209.
2005
Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences.
37(1):55-7
[PMID] 15719043.
2005
Involvement of superficial peroneal sensory nerve in common peroneal neuropathy.
Muscle & nerve.
31(6):725-9
[PMID] 15806552.
2005
The human macrophage mannose receptor directs Mycobacterium tuberculosis lipoarabinomannan-mediated phagosome biogenesis.
The Journal of experimental medicine.
202(7):987-99
[PMID] 16203868.
2005
The influence of muscle type and dystrophin deficiency on murine expression profiles.
Mammalian genome : official journal of the International Mammalian Genome Society.
16(10):739-48
[PMID] 16261416.
2005
Variations in gene expression among different types of human skeletal muscle.
Muscle & nerve.
32(4):483-91
[PMID] 15962335.
2004
Multifocal slowing of nerve conduction in metachromatic leukodystrophy.
Muscle & nerve.
29(4):531-6
[PMID] 15052618.
2004
Transcriptional profile of postmortem skeletal muscle.
Physiological genomics.
16(2):222-8
[PMID] 14625377.
2003
Ambulatory foot temperature measurement: a new technique in polyneuropathy evaluation.
Muscle & nerve.
27(6):737-42
[PMID] 12766986.
2003
Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita.
Annals of neurology.
54(6):790-5
[PMID] 14681888.
2002
Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction.
Journal of child neurology.
17(6):421-8
[PMID] 12174962.
2001
Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases.
Journal of child neurology.
16(9):657-60
[PMID] 11575606.
2001
Medial medullary injury during adenoidectomy.
The Journal of pediatrics.
138(5):772-4
[PMID] 11343061.
1997
A two-year-old girl with acute onset of seizures and progressive encephalopathy.
Current opinion in pediatrics.
9(6):558-64
[PMID] 9425587.
Grants
Jun 2020
– Jan 2021
Long read genomic analysis for Xq27-Xq28 disorders
Role: Principal Investigator
Funding: XTRAORDINARY JOY FOUNDATION
Sep 2019
ACTIVE
Surveillance of muscular dystrophy in the Southeastern United States
Role: Project Manager
Funding: CTRS FOR DISEASE CONTROL AND PREVENTION
Sep 2019
– Dec 2019
2019 Neuroscience is Rewarding Internship Program
Role: Principal Investigator
Funding: AMER ACAD OF NEUROLOGY
Oct 2018
– Jan 2021
Kang Laboratory
Role: Principal Investigator
Funding: UF FOUNDATION
Sep 2018
– Dec 2018
2018 Neuroscience Internship Program
Role: Principal Investigator
Funding: AMER ACAD OF NEUROLOGY
Aug 2016
– May 2021
214 Clinical Trial Operating Funds – Kang
Role: Principal Investigator
Funding: UNIV OF FLORIDA
Aug 2016
– Jan 2018
Novel therapies for inherited muscle diseases
Role: Principal Investigator
Funding: MEDOSOME BIOTEC
via NATL INST OF HLTH
Jul 2015
– Jun 2017
Pediatric Neuromuscular Fellowship
Role: Principal Investigator
Funding: GENZYME CORP
May 2015
– May 2018
A PHASE 2 RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTIPLE ASCENDING DOSE STUDY TO EVALUATE THE SAFETY, EFFICACY, PHARMACOKINETICS AND PHARMACODYNAMICS OF PF-06252616 IN AMBULATORY BOYS WITH DUCHENNE MUSCULAR DYSTROPHY
Role: Principal Investigator
Funding: PFIZER INC
Nov 2013
– Apr 2019
Gene Discovery in Muscular Dystrophy
Role: Principal Investigator
Funding: NATL INST OF HLTH NINDS
Contact Details
Phones:
- Business:
- (352) 273-8920
Emails:
- Business:
- pbkang@ufl.edu
Addresses:
- Business Mailing:
-
PO BOX 100296
DEPARTMENT OF PEDIATRICS
GAINESVILLE FL 326100296 - Business Street:
-
HD403-B
GAINESVILLE FL 326100001