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1

When Is Enlargement of the Subarachnoid Spaces Not Benign? A Genetic Perspective

Alex R. Paciorkowski, Robert M. Greenstein

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 357 KB

english, 2007

2

Chromosomal Microarray Interpretation: What Is a Child Neurologist to Do?

Alex R. Paciorkowski, Min Fang

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 564 KB

english, 2009

3

Genetic and Biologic Classification of Infantile Spasms

Alex R. Paciorkowski, Liu Lin Thio, William B. Dobyns

Journal:

Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 459 KB

english, 2011

4

Balance impairment in individuals with Wolfram syndrome

Kristen A. Pickett, Ryan P. Duncan, Alex R. Paciorkowski, M. Alan Permutt, Bess Marshall, Tamara Hershey, Gammon M. Earhart

Journal:

Year:

2012

Language:

english

File:

PDF, 453 KB

english, 2012

5

De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

Cushion, Thomas D., Paciorkowski, Alex R., Pilz, Daniela T., Mullins, Jonathan G.L., Seltzer, Laurie E., Marion, Robert W., Tuttle, Emily, Ghoneim, Dalia, Christian, Susan L., Chung, Seo-Kyung, Rees,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.49 MB

english, 2014

6

Autism spectrum disorder and epilepsy: Disorders with a shared biology

Lee, Bo Hoon, Smith, Tristram, Paciorkowski, Alex R.

Journal:

Epilepsy & Behavior

Year:

2015

Language:

english

File:

PDF, 919 KB

english, 2015

7

The microcephaly-capillary malformation syndrome

Ghayda M. Mirzaa, Alex R. Paciorkowski, Christopher D. Smyser, Marcia C. Willing, Anne C. Lind, William B. Dobyns

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 2.44 MB

english, 2011

8

Motion analysis of a child with Niemann–Pick disease type C treated with miglustat

Alex R. Paciorkowski, Melany Westwell, Sylvia Õunpuu, Katharine Bell, Jeanne Kagan, Cindy Mazzarella, Robert M. Greenstein

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 143 KB

english, 2008

9

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 377 KB

english, 2010

10

Juvenile-Onset GM2-Gangliosidosis in an African-American Child With Nystagmus

Alex R. Paciorkowski, Swati Sathe, Bei-Jin Zeng, Paola Torres, Sally S. Rosengren, Edwin Kolodny

Journal:

Pediatric Neurology

Year:

2008

Language:

english

File:

PDF, 361 KB

english, 2008

11

Structure–function correlations in patients with malformations of cortical development

Alex R. Paciorkowski, Trudy Lerer, Philip J. Brunquell

Journal:

Epilepsy & Behavior

Year:

2002

Language:

english

File:

PDF, 881 KB

english, 2002

12

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

Paciorkowski, Alex R., Keppler-Noreuil, Kim, Robinson, Luther, Sullivan, Christopher, Sajan, Samin, Christian, Susan L., Bukshpun, Polina, Gabriel, Stacy B., Gleeson, Joseph G., Sherr, Elliott H., Dob

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.99 MB

english, 2013

13

CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

Mirzaa, Ghayda M., Paciorkowski, Alex R., Marsh, Eric D., Berry-Kravis, Elizabeth M., Medne, Livija, Grix, Art, Wirrell, Elaine C., Powell, Berkley R., Nickels, Katherine C., Burton, Barbara, Paras, A

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 742 KB

english, 2013

14

MEF2CHaploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Paciorkowski, Alex R., Traylor, Ryan N., Rosenfeld, Jill A., Hoover, Jacqueline M., Harris, Catharine J., Winter, Susan, Lacassie, Yves, Bialer, Martin, Lamb, Allen N., Schultz, Roger A., Berry-Kravis

Journal:

Year:

2013

Language:

english

File:

PDF, 833 KB

english, 2013

15

The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications

Mirzaa, Ghayda M., Millen, Kathleen J., Barkovich, A. James, Dobyns, William B., Paciorkowski, Alex R.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 221 KB

english, 2014

16

Genetic disorders associated with postnatal microcephaly

Seltzer, Laurie E., Paciorkowski, Alex R.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2014

Language:

english

File:

PDF, 424 KB

english, 2014

17

Introduction: Brain malformations

Mirzaa, Ghayda M., Paciorkowski, Alex R.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2014

Language:

english

File:

PDF, 156 KB

english, 2014

18

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst

Hucthagowder, Vishwanathan, Liu, Ta-Chiang, Paciorkowski, Alex R., Thio, Liu Lin, Keller, Martin S., Anderson, Christopher D., Herman, Thomas, Dehner, Louis P., Grange, Dorothy K., Kulkarni, Shashikan

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 667 KB

english, 2012

19

Mutations inCENPEdefine a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

Mirzaa, Ghayda M., Vitre, Benjamin, Carpenter, Gillian, Abramowicz, Iga, Gleeson, Joseph G., Paciorkowski, Alex R., Cleveland, Don W., Dobyns, William B., O’Driscoll, Mark

Journal:

Year:

2014

Language:

english

File:

PDF, 2.52 MB

english, 2014

20

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

Paciorkowski, Alex R, Weisenberg, Judy, Kelley, Joshua B, Spencer, Adam, Tuttle, Emily, Ghoneim, Dalia, Thio, Liu Lin, Christian, Susan L, Dobyns, William B, Paschal, Bryce M

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.14 MB

english, 2014

21

Epilepsy and outcome in FOXG1 -related disorders

Seltzer, Laurie E., Ma, Mandy, Ahmed, Sohnee, Bertrand, Mary, Dobyns, William B., Wheless, James, Paciorkowski, Alex R.

Journal:

Year:

2014

Language:

english

File:

PDF, 468 KB

english, 2014

22

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Paciorkowski, Alex R., McDaniel, Sharon S., Jansen, Laura A., Tully, Hannah, Tuttle, Emily, Ghoneim, Dalia H., Tupal, Srinivasan, Gunter, Sonya A., Vasta, Valeria, Zhang, Qing, Tran, Thao, Liu, Yi B.,

Journal:

Year:

2015

Language:

english

File:

PDF, 1.42 MB

english, 2015

23

Comparison of insertion/deletion calling algorithms on human next-generation sequencing data

Ghoneim, Dalia H, Myers, Jason R, Tuttle, Emily, Paciorkowski, Alex R

Journal:

BMC Research Notes

Year:

2014

Language:

english

File:

PDF, 762 KB

english, 2014

24

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Paciorkowski, Alex R, Thio, Liu Lin, Rosenfeld, Jill A, Gajecka, Marzena, Gurnett, Christina A, Kulkarni, Shashikant, Chung, Wendy K, Marsh, Eric D, Gentile, Mattia, Reggin, James D, Wheless, James W,

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 445 KB

english, 2011

25

Synergism of Cimetidine with Anti-Malarial Agents

Alex Paciorkowski, Wei-Wei Dai, Anthony Cerami and Bradley J. Berger

Journal:

Journal of Parasitology

Year:

1997

Language:

english

File:

PDF, 925 KB

english, 1997

26

[IEEE 2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) - Milan (2015.8.25-2015.8.29)] 2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) - Automatic localization of epileptic spikes in eegs of children with infantile spasms

Traitruengsakul, Supachan, Seltzer, Laurie E., Paciorkowski, Alex R., Ghoraani, Behnaz

Year:

2015

Language:

english

File:

PDF, 1.83 MB

english, 2015

27

Familial recurrences of FOXG1 -related disorder: Evidence for mosaicism

McMahon, Kelly Q., Papandreou, Apostolos, Ma, Mandy, Barry, Brenda J., Mirzaa, Ghayda M., Dobyns, William B., Scott, Richard H., Trump, Natalie, Kurian, Manju A., Paciorkowski, Alex R.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 465 KB

english, 2015

28

Characteristic Features of the Interictal EEG Background in 2 Patients With Malignant Migrating Partial Epilepsy in Infancy

Selioutski, Olga, Seltzer, Laurie E., Burchfiel, James, Paciorkowski, Alex R., Erba, Giuseppe

Journal:

Journal of Clinical Neurophysiology

Year:

2015

Language:

english

File:

PDF, 2.63 MB

english, 2015

29

7q11.23 Duplication syndrome: Physical characteristics and natural history

Morris, Colleen A., Mervis, Carolyn B., Paciorkowski, Alex P., Abdul-Rahman, Omar, Dugan, Sarah L., Rope, Alan F., Bader, Patricia, Hendon, Laura G., Velleman, Shelley L., Klein-Tasman, Bonita P., Osb

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 2.57 MB

english, 2015

30

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies

Ma, Mandy, Adams, Heather R., Seltzer, Laurie E., Dobyns, William B., Paciorkowski, Alex R.

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 2.38 MB

english, 2016

31

Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology

Pröschel, Christoph, Hansen, Jeanne N, Ali, Adil, Tuttle, Emily, Lacagnina, Michelle, Buscaglia, Georgia, Halterman, Marc W, Paciorkowski, Alex R

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 893 KB

english, 2017

32

Developing a novel epileptic discharge localization algorithm for electroencephalogram infantile spasms during hypsarrhythmia

Traitruengsakul, Supachan, Seltzer, Laurie E., Paciorkowski, Alex R., Ghoraani, Behnaz

Journal:

Medical and Biological Engineering and Computing

Year:

2017

Language:

english

File:

PDF, 1.65 MB

english, 2017

33

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature

Park, Kaylee, Seltzer, Laurie E., Tuttle, Emily, Mirzaa, Ghayda M., Paciorkowski, Alex R.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 318 KB

english, 2017

34

Swaiman's Pediatric Neurology || Developmental Encephalopathies

Paciorkowski, Alex R.

Year:

2017

Language:

english

File:

PDF, 482 KB

english, 2017

35

CEDNIK

Hsu, Tina, Coughlin, Carrie C., Monaghan, Kristin G., Fiala, Elise, McKinstry, Robert C., Paciorkowski, Alex R., Shinawi, Marwan

Journal:

Child Neurology Open

Year:

2017

Language:

english

File:

PDF, 312 KB

english, 2017

36

Depletion of transglutaminase 2 in neurons alters expression of extracellular matrix and signal transduction genes and compromises cell viability

Yunes-Medina, Laura, Paciorkowski, Alex, Nuzbrokh, Yan, Johnson, Gail V.W.

Journal:

Molecular and Cellular Neuroscience

Year:

2018

Language:

english

File:

PDF, 912 KB

english, 2018

37

Ode to the humble Southern blot in the era of exomes

Paciorkowski, Alex R.

Journal:

Neurology Clinical Practice

Year:

2018

Language:

english

File:

PDF, 131 KB

english, 2018

38

Phenotypes, genotypes, and the management of paroxysmal movement disorders

Silveira-Moriyama, Laura, Kovac, Stjepana, Kurian, Manju A, Houlden, Henry, Lees, Andrew J, Walker, Matthew C, Roze, Emmanuel, Paciorkowski, Alex R, Mink, Jonathan W, Warner, Thomas T

Journal:

Developmental Medicine & Child Neurology

Year:

2018

Language:

english

File:

PDF, 293 KB

english, 2018

39

Early Brain Vulnerability in Wolfram Syndrome

Hershey, Tamara, Lugar, Heather M., Shimony, Joshua S., Rutlin, Jerrel, Koller, Jonathan M., Perantie, Dana C., Paciorkowski, Alex R., Eisenstein, Sarah A., Permutt, M. Alan, Linden, Rafael

Journal:

Year:

2012

Language:

english

File:

PDF, 2.44 MB

english, 2012

40

Nuclear transglutaminase 2 directly regulates expression of cathepsin S in rat cortical neurons

Ji, Changyi, Tang, Maoping, Harrison, Jarreau, Paciorkowski, Alex, Johnson, Gail V. W.

Journal:

European Journal of Neuroscience

Year:

2018

Language:

english

File:

PDF, 1.00 MB

english, 2018

41

Association of Severe Hydrocephalus With Congenital Zika Syndrome

van der Linden, Vanessa, de Lima Petribu, Natacha Calheiros, Pessoa, Andre, Faquini, Igor, Paciorkowski, Alex R., van der Linden, Hélio, Silveira-Moriyama, Laura, Cordeiro, Marli Tenório, Hazin, Adria

Journal:

Year:

2018

Language:

english

File:

PDF, 741 KB

english, 2018

42

BioVR: a platform for virtual reality assisted biological data integration and visualization

Zhang, Jimmy F., Paciorkowski, Alex R., Craig, Paul A., Cui, Feng

Journal:

BMC Bioinformatics

Year:

2019

Language:

english

File:

PDF, 1.36 MB

english, 2019

43

Kinesigenic Triggers In Episodic Ataxia Type 1

Gusmao, Claudio M., Garcia, Lucas Rogerio, Jesuthasan, Aaron, Muir, Meaghan, Paciorkowski, Alex, Mink, Jonathan W., SilveiraâMoriyama, Laura

Journal:

Movement Disorders Clinical Practice

Year:

2020

File:

PDF, 1.22 MB

2020

44

Movement disorders in children with congenital Zika virus syndrome

van der Linden, HÃ©lio, Silveira-Moriyama, Laura, van der Linden, Vanessa, Pessoa, AndrÃ©, Valente, Kette, Mink, Jonathan, Paciorkowski, Alex

Journal:

Brain and Development

Year:

2020

File:

PDF, 1.13 MB

2020