Results 91 to 100 of about 7,107 (122)

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. [PDF]

Mol Genet Metab, 2020
Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Wang RY, Movsesyan N, Plummer E, Schaffer JE, Ory DS, Jiang X.   +16 more
europepmc   +1 more source

Sterol O-Acyltransferase 1 (<i>SOAT1</i>): A Genetic Modifier of Niemann-Pick Disease, Type C1. [PDF]

Int J Mol Sci
Farhat NY, Alexander D, McKee K, Iben J, Rodriguez-Gil JL, Wassif CA, Cawley NX, Balch WE, Porter FD.   +8 more
europepmc   +1 more source

Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. [PDF]

J Dev Behav Pediatr, 2020
Thurm A, Chlebowski C, Joseph L, Farmer C, Adedipe D, Weiss M, Wiggs E, Farhat N, Bianconi S, Berry-Kravis E, Porter FD.   +10 more
europepmc   +1 more source

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1. [PDF]

Sci Rep, 2020
Chiorean A, Garver WS, Meyre D.
europepmc   +1 more source

Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1. [PDF]

Int J Mol Sci, 2020
Cawley NX, Lyons AT, Abebe D, Wassif CA, Porter FD.   +4 more
europepmc   +1 more source

Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner. [PDF]

Mol Genet Metab, 2020
Cougnoux A, Fellmeth M, Gu T, Davidson CD, Gibson AL, Pavan WJ, Porter FD.   +6 more
europepmc   +1 more source

Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1.

JAMA Neurol, 2020
Solomon BI, Smith AC, Sinaii N, Farhat N, King MC, Machielse L, Porter FD.   +6 more
europepmc   +1 more source

Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1. [PDF]

Int J Mol Sci, 2019
Bräuer AU, Kuhla A, Holzmann C, Wree A, Witt M.   +4 more
europepmc   +1 more source

Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention. [PDF]

Hum Mol Genet, 2018
Cougnoux A, Drummond RA, Collar AL, Iben JR, Salman A, Westgarth H, Wassif CA, Cawley NX, Farhat NY, Ozato K, Lionakis MS, Porter FD.   +11 more
europepmc   +1 more source

Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1. [PDF]

J Child Neurol, 2018
Sansare A, Zampieri C, Alter K, Stanley C, Farhat N, Keener LA, Porter F.   +6 more
europepmc   +1 more source