Peter B Kang

Peter B Kang,

Courtesy Professor Of Pediatrics

Department: MD-PEDS-NEUROLOGY
Business Phone: (352) 273-8920
Business Email: pbkang@ufl.edu

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
Detecting missed diagnoses 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
Skipping, Steroids, and Genes: The First 7 Therapies for Duchenne Muscular Dystrophy.
Neurology. 102(5) [DOI] 10.1212/WNL.0000000000209210. [PMID] 38335475.
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 9-14 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
Author response.
Neurology. 85(16):1432-3 [PMID] 26771040.
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
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