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Items: 13

Select item 90009291.

Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia

Mary L. Vo, Tess Levy, Shenela Lakhani, Chengbing Wang, M. Elizabeth Ross

Mol Genet Genomic Med. 2022 Apr; 10(4): e1906. Published online 2022 Feb 22. doi: 10.1002/mgg3.1906

PMCID:: PMC9000929

Abstract Article PDF–551K

Select item 86241822.

Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the “Variant” Biochemical Phenotype of Niemann-Pick Type C1 Disease

Christin Völkner, Maik Liedtke, Robert Untucht, Andreas Hermann, Moritz J. Frech

Int J Mol Sci. 2021 Nov; 22(22): 12184. Published online 2021 Nov 10. doi: 10.3390/ijms222212184

PMCID:: PMC8624182

Abstract Article PDF–24M

Select item 73209593.

Retinal axonal degeneration in Niemann–Pick type C disease

Joachim Havla, Marlene Moser, Clara Sztatecsny, Amelie S. Lotz-Havla, Esther M. Maier, Baccara Hizli, Regina Schinner, Tania Kümpfel, Michael Strupp, Tatiana Bremova-Ertl, Susanne A. Schneider

J Neurol. 2020; 267(7): 2070–2082. Published online 2020 Mar 28. doi: 10.1007/s00415-020-09796-2

PMCID:: PMC7320959

Abstract Article PDF–1.0M

Select item 60986314.

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

Tomoya Kawazoe, Toshiyuki Yamamoto, Aya Narita, Kousaku Ohno, Kaori Adachi, Eiji Nanba, Atsuko Noguchi, Tsutomu Takahashi, Masamitsu Maekawa, Yoshikatsu Eto, Masafumi Ogawa, Miho Murata, Yuji Takahashi

BMC Neurol. 2018; 18: 117. Published online 2018 Aug 17. doi: 10.1186/s12883-018-1124-2

PMCID:: PMC6098631

Abstract Article PDF–1.7M

Select item 50118885.

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report

Jean-Marie Cuisset, S. Sukno, A. Trauffler, P. Latour, D. Dobbelaere, L. Michaud, L. Vallée

J Med Case Rep. 2016; 10(1): 241. Published online 2016 Sep 6. doi: 10.1186/s13256-016-1038-9

PMCID:: PMC5011888

Abstract Article PDF–996K

Select item 49010136.

Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea

Su-Yun Lee, Hyung Jin Lee, Seong Hwan Kim, Young Jin Jeong, Hee Kyung Jin, Jae-sung Bae, Sang-Myung Cheon, Jae Woo Kim

J Korean Med Sci. 2016 Jul; 31(7): 1168–1172. Published online 2016 May 12. doi: 10.3346/jkms.2016.31.7.1168

PMCID:: PMC4901013

Abstract Article PDF–1.1M

Select item 46785287.

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

Jackie Imrie, Lesley Heptinstall, Stephen Knight, Kate Strong

BMC Neurol. 2015; 15: 257. Published online 2015 Dec 15. doi: 10.1186/s12883-015-0511-1

PMCID:: PMC4678528

Abstract Article PDF–671K

Select item 44863688.

High Incidence of Unrecognized Visceral/Neurological Late-onset Niemann-Pick Disease, type C1 Predicted by Analysis of Massively Parallel Sequencing Data Sets

Christopher A. Wassif, Joanna L. Cross, James Iben, Luis Sanchez-Pulido, Antony Cougnoux, Frances M. Platt, Daniel S. Ory, Chris P. Ponting, Joan E. Bailey-Wilson, Leslie G. Biesecker, Forbes D. Porter

Genet Med. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Genet Med. 2016 Jan; 18(1): 41–48. Published online 2015 Mar 12. doi: 10.1038/gim.2015.25

PMCID:: PMC4486368

Abstract Article PDF–1.2M

Select item 37926939.

Genetic screening for Niemann–Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Peter Bauer, David J. Balding, Hans H. Klünemann, David E. J. Linden, Daniel S. Ory, Mercè Pineda, Josef Priller, Frederic Sedel, Audrey Muller, Harbajan Chadha-Boreham, Richard W. D. Welford, Daniel S. Strasser, Marc C. Patterson

Hum Mol Genet. 2013 Nov 1; 22(21): 4349–4356. Published online 2013 Jun 16. doi: 10.1093/hmg/ddt284

PMCID:: PMC3792693

Abstract Article PDF–158K

Select item 377547210.

A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease

Jorge L. Rodriguez-Gil, Denise M. Larson, Christopher A. Wassif, Nicole M. Yanjanin, Stacie M. Anderson, Martha R. Kirby, Niraj S. Trivedi, Forbes D. Porter, William J. Pavan

Mol Genet Metab. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Mol Genet Metab. 2013 Sep-Oct; 110(0): 188–190. Published online 2013 Jun 21. doi: 10.1016/j.ymgme.2013.06.010