Tyler Mark Pierson
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Explore the profile of Tyler Mark Pierson including associated specialties, affiliations and a list of published articles.
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42
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1061
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Recent Articles
21.
Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson T, et al.
J Med Genet
. 2019 Mar;
56(8):499-511.
PMID: 30910913
Background: Spinocerebellar ataxia type 28 (SCA28) is a dominantly inherited neurodegenerative disease caused by pathogenic variants in The AFG3L2 protein is a subunit of mitochondrial -AAA complexes involved in protein...
22.
Otero M, Tiongson E, Diaz F, Haude K, Panzer K, Collier A, et al.
Ann Clin Transl Neurol
. 2019 Jan;
6(1):154-160.
PMID: 30656193
encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous missense mutation has been previously described in two separate consanguineous families. We report four subjects with...
23.
Tripathy R, Leca I, van Dijk T, Weiss J, van Bon B, Sergaki M, et al.
Neuron
. 2018 Nov;
100(6):1354-1368.e5.
PMID: 30449657
Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM)...
24.
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
Chen W, Shieh C, Swanger S, Tankovic A, Au M, Mcguire M, et al.
J Hum Genet
. 2017 Feb;
62(6):589-597.
PMID: 28228639
N-methyl-d-aspartate receptors (NMDARs) play important roles in brain development and neurological disease. We report two individuals with similar dominant de novo GRIN1 mutations (c.1858 G>A and c.1858 G>C; both p.G620R)....
25.
Schartner V, Romero N, Donkervoort S, Treves S, Munot P, Pierson T, et al.
Acta Neuropathol
. 2016 Dec;
133(4):517-533.
PMID: 28012042
Muscle contraction upon nerve stimulation relies on excitation-contraction coupling (ECC) to promote the rapid and generalized release of calcium within myofibers. In skeletal muscle, ECC is performed by the direct...
26.
Shieh C, Moser F, Graham Jr J, Watiker V, Pierson T
Neurol Genet
. 2016 Apr;
1(4):e34.
PMID: 27066571
Objective: To describe the phenotype of a patient with classical features of X-linked L1 syndrome associated with novel brain malformations. Methods: Diagnostic analysis included physical and dysmorphology examinations, MRI of...
27.
Gan J, Garcia V, Tian J, Tagliati M, Parisi J, Chung J, et al.
Neuromuscul Disord
. 2015 Nov;
25(12):959-63.
PMID: 26526000
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is an extremely rare disorder related to the lysosomal storage disease, Farber lipogranulomatosis. Both disorders are autosomal recessive conditions caused by mutations...
28.
Pizzino A, Pierson T, Guo Y, Helman G, Fortini S, Guerrero K, et al.
Neurology
. 2014 Aug;
83(10):898-902.
PMID: 25085639
Objective: We present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations. Methods: Patients in 2 large institutional review board-approved...
29.
Renvoise B, Chang J, Singh R, Yonekawa S, FitzGibbon E, Mankodi A, et al.
Ann Clin Transl Neurol
. 2014 Jul;
1(6):379-389.
PMID: 24999486
Objective: Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70 disease loci identified (SPG1-71) to date. SPG15 and SPG11 are clinically similar, autosomal...
30.
Zhu P, Denton K, Pierson T, Li X, Blackstone C
Hum Mol Genet
. 2014 Jun;
23(21):5638-48.
PMID: 24908668
Hereditary spastic paraplegias are a large, diverse group of neurological disorders (SPG1-71) with the unifying feature of prominent lower extremity spasticity, owing to a length-dependent axonopathy of corticospinal motor neurons....