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)

0000-0002-4270-7325

Publications

2022
Can We Generalize Key Principles in the Care of Rare Diseases? The Case for Adrenoleukodystrophy
Neurology. [DOI] 10.1212/wnl.0000000000201400.
2022
Clinical, electrophysiological, and imaging findings in childhood brachial plexus injury
Developmental Medicine & 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. 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. 32(1):57-64 [DOI] 10.1016/j.nmd.2021.11.002.
2022
Peripheral neuropathies associated with DNA repair disorders
Muscle & Nerve. [DOI] 10.1002/mus.27721.
2022
The Notch signaling pathway in skeletal muscle health and disease
Muscle & Nerve. 66(5):530-544 [DOI] 10.1002/mus.27684.
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
A form of muscular dystrophy associated with pathogenic variants in JAG2
The American Journal of Human Genetics. 108(5):840-856 [DOI] 10.1016/j.ajhg.2021.03.020. [PMID] 33861953.
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
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
Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty
Muscle & Nerve. 63(3):282-284 [DOI] 10.1002/mus.27160.
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.
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.
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.
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
Cover
Molecular Genetics & Genomic Medicine. 7(3):i-i [DOI] 10.1002/mgg3.646.
2019
Identification of a pathogenic mutation inATP2A1via 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
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
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