Tanya J Lehky
Overview
Explore the profile of Tanya J Lehky including associated specialties, affiliations and a list of published articles.
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26
Citations
453
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Recent Articles
1.
Greene S, Soldatos A, Toro C, Zein W, Snow J, Lehky T, et al.
Semin Pediatr Neurol
. 2024 Dec;
52():101168.
PMID: 39622608
Chedíak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the Lysosomal Trafficking Regulator (LYST) gene, leading to defective lysosomal function in immune cells, melanocytes, and neurons....
2.
Offit M, Mohammad Khanli H, Wu T, Lehky T
Muscle Nerve
. 2023 Oct;
69(3):288-294.
PMID: 37787098
Introduction/aims: Electrical impedance myography (EIM) is a noninvasive technique being used in clinical studies to characterize muscle by phase, reactance, and resistance after application of a low-intensity current. The aim...
3.
Tenney A, Di Gioia S, Webb B, Chan W, de Boer E, Garnai S, et al.
Nat Genet
. 2023 Jun;
55(7):1149-1163.
PMID: 37386251
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial...
4.
Whitman M, Barry B, Robson C, Facio F, Van Ryzin C, Chan W, et al.
Hum Genet
. 2021 Oct;
140(12):1709-1731.
PMID: 34652576
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations....
5.
Lehky T, Sackstein P, Tamura D, Quezado M, Wu T, Khan S, et al.
BMC Neurol
. 2021 Oct;
21(1):393.
PMID: 34627174
Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients...
6.
Donkervoort S, Mohassel P, Laugwitz L, Zaki M, Kamsteeg E, Maroofian R, et al.
Am J Med Genet A
. 2020 Aug;
182(10):2272-2283.
PMID: 32776697
Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptotagmin-2 (SYT2), is the major isoform expressed at the...
7.
Offit M, Wu T, Floeter M, Lehky T
Amyotroph Lateral Scler Frontotemporal Degener
. 2020 Apr;
21(5-6):445-451.
PMID: 32312103
Electrical Impedance Myography (EIM) was used to evaluate disease progression in subjects with expansion mutations and to assess correlations with Medical Research Council (MRC) Scale and revised ALS Functional Rating...
8.
Burke E, Reichard K, Wolfe L, Brooks B, DiGiovanna J, Hadley D, et al.
Am J Med Genet A
. 2020 Mar;
182(5):1278-1283.
PMID: 32150337
Waardenburg syndrome (WS) is a group of genetic disorders associated with varying components of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and eyes. There exist four different...
9.
Kang P, McMillan H, Kuntz N, Lehky T, Alter K, Fitzpatrick K, et al.
Muscle Nerve
. 2019 Nov;
61(2):143-155.
PMID: 31724199
Nerve conduction studies and needle electromyography, collectively known as electrodiagnostic (EDX) studies, have been available for pediatric patients for decades, but the accessibility of this diagnostic modality and the approach...
10.
Nelson C, Dombi E, Rosenblum J, Miettinen M, Lehky T, Whitcomb P, et al.
J Neurosurg
. 2019 Oct;
133(5):1516-1526.
PMID: 31653805
Objective: Patients with neurofibromatosis type 1 (NF1) are predisposed to visceral neurofibromas, some of which can progress to premalignant atypical neurofibromas (ANFs) and malignant peripheral nerve sheath tumors (MPNSTs). Though...