Alex R Paciorkowski
Overview
Explore the profile of Alex R Paciorkowski including associated specialties, affiliations and a list of published articles.
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54
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1167
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Recent Articles
1.
XiangWei W, Perszyk R, Liu N, Xu Y, Bhattacharya S, Shaulsky G, et al.
Cell Mol Life Sci
. 2023 Nov;
80(11):345.
PMID: 37921875
AMPA receptors are members of the glutamate receptor family and mediate a fast component of excitatory synaptic transmission at virtually all central synapses. Thus, their functional characteristics are a critical...
2.
Chopra M, Gable D, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, et al.
Ann Clin Transl Neurol
. 2022 Jan;
9(2):193-205.
PMID: 35076175
Objectives: Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single-gene disorders is under-characterized. To explore the genetic landscape of CP, we conducted whole exome...
3.
Masten M, Corre C, Paciorkowski A, Vierhile A, Adams H, Vermilion J, et al.
J Inherit Metab Dis
. 2021 Aug;
44(6):1453-1462.
PMID: 34453334
Over the past 20 years, diagnostic testing for genetic diseases has evolved, leading to variable diagnostic certainty for individuals included in long-term natural history studies. Using genotype and phenotype data...
4.
Gorman K, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, et al.
Am J Hum Genet
. 2019 Apr;
104(5):948-956.
PMID: 30982612
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms...
5.
Zhang J, Paciorkowski A, Craig P, Cui F
BMC Bioinformatics
. 2019 Feb;
20(1):78.
PMID: 30767777
Background: Functional characterization of single nucleotide variants (SNVs) involves two steps, the first step is to convert DNA to protein and the second step is to visualize protein sequences with...
6.
Van der Linden V, de Lima Petribu N, Pessoa A, Faquini I, Paciorkowski A, Van der Linden Jr H, et al.
JAMA Neurol
. 2018 Nov;
76(2):203-210.
PMID: 30452526
Importance: Hydrocephalus is a treatable but potentially fatal complication that has not been previously described in congenital Zika syndrome (CZS). Objective: To describe the clinical features and imaging findings in...
7.
Silveira-Moriyama L, Kovac S, Kurian M, Houlden H, Lees A, Walker M, et al.
Dev Med Child Neurol
. 2018 Mar;
60(6):559-565.
PMID: 29600549
What The Paper Adds: A growing number of genes have been associated with classic and newly described paroxysmal movement disorders. Paroxysmal movement disorders share common mechanisms and clinical features with...
8.
9.
Silveira-Moriyama L, Paciorkowski A
Continuum (Minneap Minn)
. 2018 Feb;
24(1, Child Neurology):18-36.
PMID: 29432235
Purpose Of Review: This article puts advances in the field of neurogenetics into context and provides a quick review of the broad concepts necessary for current practice in neurology. Recent...
10.
Lee B, Reijnders M, Abubakare O, Tuttle E, Lape B, Minks K, et al.
Am J Med Genet A
. 2017 Nov;
176(1):56-67.
PMID: 29150892
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals...