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1

108. Umbilical cord blood transplant of three siblings with juvenile metachromatic leukodystrophy (jMLD): Five year follow-up

Tyler Pierson, Kenneth Fischbeck, Nancy Bunin, Tanya Lehky, Richard Finkel

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

2

Hereditary spastic paraplegias types 15 and 11 are associated with lysosomal abnormalities

Pierson, Tyler Mark, Renvoisé, Benoît, Chang, Jaerak, Toro, Camilo, Blackstone, Craig

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 48 KB

english, 2014

3

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 7.66 MB

english, 2019

4

VAR-MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance

Murat Sincan, Dimitre R Simeonov, David Adams, Thomas C. Markello, Tyler M. Pierson, Camilo Toro, William A. Gahl, Cornelius F. Boerkoel

Journal:

Year:

2012

Language:

english

File:

PDF, 318 KB

english, 2012

5

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Landouré, Guida, Zhu, Peng-Peng, Lourenço, Charles M., Johnson, Janel O., Toro, Camilo, Bricceno, Katherine V., Rinaldi, Carlo, Meilleur, Katherine G., Sangaré, Modibo, Diallo, Oumarou, Pierson, Tyler

Journal:

Year:

2013

Language:

english

File:

PDF, 1.18 MB

english, 2013

6

Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy

Tyler Mark Pierson, Carsten G. Bonnemann, Richard S. Finkel, Nancy Bunin, Gihan I. Tennekoon

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 105 KB

english, 2008

7

Analysis of DNA sequence variants detected by high-throughput sequencing

David R. Adams, Murat Sincan, Karin Fuentes Fajardo, James C. Mullikin, Tyler M. Pierson, Camilo Toro, Cornelius F. Boerkoel, Cynthia J. Tifft, William A. Gahl, Tom C. Markello

Journal:

Year:

2012

Language:

english

File:

PDF, 258 KB

english, 2012

8

Modeling CLN6 with IPSC-derived neural cells

Pierson, Tyler Mark, Otero, Maria Gabriella, Nonis, David Fabian, Kim, Jaemin

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 55 KB

english, 2019

9

Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

Souza, Ivana A., Gandini, Maria A., Zhang, Fang-Xiong, Mitchell, Wendy G., Matsumoto, Joyce, Lerner, Jason, Pierson, Tyler Mark, Zamponi, Gerald W.

Journal:

Molecular Brain

Year:

2019

File:

PDF, 798 KB

2019

10

Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

Souza, Ivana A., Gandini, Maria A., Zhang, Fang-Xiong, Mitchell, Wendy G., Matsumoto, Joyce, Lerner, Jason, Pierson, Tyler Mark, Zamponi, Gerald W.

Journal:

Molecular Brain

Year:

2019

Language:

english

File:

PDF, 798 KB

english, 2019

11

Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 variants

Fu, Jiao, Korwutthikulrangsri, Manassawee, Ramos-Platt, Leigh, Pierson, Tyler M, Liao, Xiao-Hui, Refetoff, Samuel, Weiss, Roy E, Dumitrescu, Alexandra M

Journal:

Year:

2019

File:

PDF, 1.37 MB

2019

12

Regulable Expression of Inhibin A in Wild-Type and Inhibinα Null Mice

Pierson, Tyler Mark, Wang, Yaolin, DeMayo, Francesco J., Matzuk, Martin M., Tsai, Sophia Y., O’Malley, Bert W.

Journal:

Molecular Endocrinology

Year:

2000

Language:

english

File:

PDF, 663 KB

english, 2000

13

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei

Sahai, Supreet K., Steiner, Rebecca E., Au, Margaret G., Graham, John M., Salamon, Noriko, Ibba, Michael, Pierson, Tyler M.

Journal:

Annals of Clinical and Translational Neurology

Year:

2018

Language:

english

File:

PDF, 371 KB

english, 2018

14

Chitotriosidase as a Measure of Disease Burden in Patients with GM1 and GM2 Gangliosidosis

Lindsay Beattie, Sandra Yang, Gretchen Golas, Jessica Peterson, Tyler Pierson, David Adams, Cynthia Tifft

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

15

Increased frequency of congenital heart defects in Menkes disease

Hicks, Julia D., Donsante, Anthony, Pierson, Tyler M., Gillespie, Matthew J., Chou, Denise E., Kaler, Stephen G.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 177 KB

english, 2012

16

Dihydropyridine receptor (DHPR,CACNA1S) congenital myopathy

Schartner, Vanessa, Romero, Norma B., Donkervoort, Sandra, Treves, Susan, Munot, Pinki, Pierson, Tyler Mark, Dabaj, Ivana, Malfatti, Edoardo, Zaharieva, Irina T., Zorzato, Francesco, Abath Neto, Osori

Journal:

Acta Neuropathologica

Year:

2017

Language:

english

File:

PDF, 8.48 MB

english, 2017

17

Modeling CLN6 with patient-derived IPS cells

Pierson, Tyler Mark

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

18

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D., Fuentes-Fajardo, Karin, Adams, David R., Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R., Holloman, Conisha, Tankovic, Anel, Karamchandani,

Journal:

Annals of Clinical and Translational Neurology

Year:

2014

Language:

english

File:

PDF, 453 KB

english, 2014

19

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase

Tyler Mark Pierson, Paola A. Torres, Bei-Jin Zeng, Allan M. Glanzman, David Adams, Richard S. Finkel, Don J. Mahuran, Gregory M. Pastores, Gihan I. Tennekoon, Edwin H. Kolodny

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 561 KB

english, 2013

20

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin, James C., Blakesley, Robert W., Golas, Gretchen, Kw

Journal:

Year:

2011

Language:

english

File:

PDF, 2.25 MB

english, 2011

21

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

Curiel, Julian, Rodríguez Bey, Guillermo, Takanohashi, Asako, Bugiani, Marianna, Fu, Xiaoqin, Wolf, Nicole I., Nmezi, Bruce, Schiffmann, Raphael, Bugaighis, Mona, Pierson, Tyler, Helman, Guy, Simons,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.59 MB

english, 2017

22

Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy

Gan, Joanna J., Garcia, Virginie, Tian, Jane, Tagliati, Michele, Parisi, Joseph E., Chung, Jeffrey M., Lewis, Richard, Baloh, Robert, Levade, Thierry, Pierson, Tyler Mark

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

23

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

Tyler Mark Pierson, Gary Tart, David Adams, Camilo Toro, Gretchen Golas, Cynthia Tifft, William Gahl

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 93 KB

english, 2011

24

74. Novel mutations in juvenile Sandhoff disease presenting as motor neuron disease

Tyler Mark Pierson, Bai Jin Zeng, Paola Torres, Gregory Pastores, Richard Finkel, Don Mahuran, Edwin Kolodny, Gihan Tennekoon

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 44 KB

english, 2008

25

Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: A 5-year follow-up in three affected siblings

Casey Cable, Richard S. Finkel, Tanya J. Lehky, Nadia M. Biassou, Edythe A. Wiggs, Nancy Bunin, Tyler Mark Pierson

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 217 KB

english, 2011

26

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

Yuan, Hongjie, Hansen, Kasper B., Zhang, Jing, Mark Pierson, Tyler, Markello, Thomas C., Fajardo, Karin V. Fuentes, Holloman, Conisha M., Golas, Gretchen, Adams, David R., Boerkoel, Cornelius F., Gahl

Journal:

Nature Communications

Year:

2014

Language:

english

File:

PDF, 1.54 MB

english, 2014

27

The Performance of Four Pleural Drainage Systems in an Animal Model of Bronchopleural Fistula

Rusch, Valerie W., Capps, John S., Tyler, Martha L., Pierson, David L.

Journal:

Year:

1988

Language:

english

File:

PDF, 509 KB

english, 1988

28

Inhibin A Is an Endocrine Stimulator of Bone Mass and Strength

Perrien, Daniel S., Akel, Nisreen S., Edwards, Paul K., Carver, Adam A., Bendre, Manali S., Swain, Frances L., Skinner, Robert A., Hogue, William R., Nicks, Kristy M., Pierson, Tyler M., Suva, Larry J

Journal:

Year:

2007

Language:

english

File:

PDF, 462 KB

english, 2007

29

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

Pierson, Tyler Mark, Simeonov, Dimitre R, Sincan, Murat, Adams, David A, Markello, Thomas, Golas, Gretchen, Fuentes-Fajardo, Karin, Hansen, Nancy F, Cherukuri, Praveen F, Cruz, Pedro

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 266 KB

english, 2011

30

The NuRD complex and macrocephaly associated neurodevelopmental disorders

Pierson, Tyler Mark, Otero, Maria G., Grand, Katheryn, Choi, Andrew, Graham, John M., Young, Juan I., Mackay, Joel P.

Journal:

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

Year:

2019

Language:

english

File:

PDF, 1.75 MB

english, 2019

31

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Pierson, Tyler Mark, Markello, Thomas, Accardi, John, Wolfe, Lynne, Adams, David, Sincan, Murat, Tarazi, Noor M., Fajardo, Karin Fuentes, Cherukuri, Praveen F., Bajraktari, Ilda, Meilleur, Katy G., Do

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.05 MB

english, 2013

32

Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 variants

Fu, Jiao, Korwutthikulrangsri, Manassawee, Ramos-Platt, Leigh, Pierson, Tyler M, Liao, Xiao-Hui, Refetoff, Samuel, Weiss, Roy E, Dumitrescu, Alexandra M

Journal:

Year:

2019

Language:

english

File:

PDF, 1.37 MB

english, 2019

33

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Gahl, William A., Markello, Thomas C., Toro, Camilo, Fajardo, Karin Fuentes, Sincan, Murat, Gill, Fred, Carlson-Donohoe, Hannah, Gropman, Andrea, Pierson, Tyler Mark, Golas, Gretchen, Wolfe, Lynne, Gr

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 451 KB

english, 2012

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