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Items: 8


SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.


Benefits of hemicraniectomy seen many years after malignant stroke in a young patient.

Mittal A, Mittal G, Partikian A, Liebeskind D, Sanossian N.

Front Neurol. 2012 Aug 2;3:123. eCollection 2012.


Neurodevelopmental and epilepsy outcomes in a North American cohort of patients with infantile spasms.

Partikian A, Mitchell WG.

J Child Neurol. 2010 Apr;25(4):423-8. doi: 10.1177/0883073809341664. Epub 2009 Sep 11.


Major adverse events associated with treatment of infantile spasms.

Partikian A, Mitchell WG.

J Child Neurol. 2007 Dec;22(12):1360-6. doi: 10.1177/0883073807310988.


Iatrogenic botulism in a child with spastic quadriparesis.

Partikian A, Mitchell WG.

J Child Neurol. 2007 Oct;22(10):1235-7.


Suppression of Saccharomyces cerevisiae rad27 null mutant phenotypes by the 5' nuclease domain of Escherichia coli DNA polymerase I.

Sun X, Wu P, Zheng L, Thrower D, Partikian A, Qiu J, Shen B.

Curr Genet. 2002 Sep;41(6):379-88. Epub 2002 Aug 23.


Arginine residues 47 and 70 of human flap endonuclease-1 are involved in DNA substrate interactions and cleavage site determination.

Qiu J, Bimston DN, Partikian A, Shen B.

J Biol Chem. 2002 Jul 5;277(27):24659-66. Epub 2002 May 1.


Rapid diffusion of green fluorescent protein in the mitochondrial matrix.

Partikian A, Olveczky B, Swaminathan R, Li Y, Verkman AS.

J Cell Biol. 1998 Feb 23;140(4):821-9.

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