Publications:

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Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

International Journal Of Neonatal Screening

Kubaski, Francyne F; Burlina, Alberto A; Polo, Giulia G; Pereira, Danilo D; Herbst, Zackary M ZM; Silva, Camilo C; Trapp, Franciele B FB; Michelin-Tirelli, Kristiane K; Lopes, Franciele F FF; Burin, Maira G MG; Brusius-Facchin, Ana Carolina AC; Netto, Alice B O ABO; Faqueti, Larissa L; Iop, Gabrielle D GD; Poletto, Edina E; Giugliani, Roberto R

Publication Date: 2022-06-28

Variant appearance in text: NPC1: G992R

PubMed Link: 35892469

Variant Present in the following documents:

• IJNS-08-00039.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: NPC1: 2974G>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems.

Cells

Völkner, Christin C; Pantoom, Supansa S; Liedtke, Maik M; Lukas, Jan J; Hermann, Andreas A; Frech, Moritz J MJ

Publication Date: 2022-01-18

Variant appearance in text: NPC1: G992R

PubMed Link: 35159129

Variant Present in the following documents:

• cells-11-00319.pdf

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Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems.

Cells

Völkner, Christin C; Pantoom, Supansa S; Liedtke, Maik M; Lukas, Jan J; Hermann, Andreas A; Frech, Moritz J MJ

Publication Date: 2022-01-18

Variant appearance in text: NPC1: G992R

PubMed Link: 35159129

Variant Present in the following documents:

• cells-11-00319.pdf

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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.

International Journal Of Molecular Sciences

Völkner, Christin C; Liedtke, Maik M; Untucht, Robert R; Hermann, Andreas A; Frech, Moritz J MJ

Publication Date: 2021-11-10

Variant appearance in text: NPC1: 2974G>C; G992R

PubMed Link: 34830064

Variant Present in the following documents:

• Main text
• ijms-22-12184.pdf

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: NPC1: Gly992Arg

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.pdf

View BVdb publication page

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Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.

International Journal Of Molecular Sciences

Völkner, Christin C; Liedtke, Maik M; Hermann, Andreas A; Frech, Moritz J MJ

Publication Date: 2021-01-12

Variant appearance in text: NPC1: G992R

PubMed Link: 33445799

Variant Present in the following documents:

• Main text
• ijms-22-00710.pdf

View BVdb publication page

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Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.

Movement Disorders Clinical Practice

Wu, Melanie M; Ceponiene, Rita R; Bayram, Ece E; Litvan, Irene I

Publication Date: 2020-11

Variant appearance in text: NPC1: 2974G>C; G992R

PubMed Link: 33163568

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs80358254

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.

Journal Of Clinical Medicine

Dardis, Andrea A; Zampieri, Stefania S; Gellera, Cinzia C; Carrozzo, Rosalba R; Cattarossi, Silvia S; Peruzzo, Paolo P; Dariol, Rosalia R; Sechi, Annalisa A; Deodato, Federica F; Caccia, Claudio C; Verrigni, Daniela D; Gasperini, Serena S; Fiumara, Agata A; Fecarotta, Simona S; Carecchio, Miryam M; Filosto, Massimiliano M; Santoro, Lucia L; Borroni, Barbara B; Bordugo, Andrea A; Brancati, Francesco F; Russo, Cinzia V CV; Di Rocco, Maja M; Toscano, Antonio A; Scarpa, Maurizio M; Bembi, Bruno B

Publication Date: 2020-03-03

Variant appearance in text: NPC1: G992R

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

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In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C.

Heliyon

Esposito, Marcello M; Dubbioso, Raffaele R; Tozza, Stefano S; Iodice, Rosa R; Aiello, Marco M; Nicolai, Emanuele E; Cavaliere, Carlo C; Salvatore, Marco M; Santoro, Lucio L; Manganelli, Fiore F

Publication Date: 2019-11

Variant appearance in text: NPC1: G992R

PubMed Link: 31844711

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: NPC1: 2974G>C; Gly992Arg; rs80358254

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: NPC1: 2974G>C; Gly992Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Orphanet Journal Of Rare Diseases

Nadjar, Yann Y; Hütter-Moncada, Ana Lucia AL; Latour, Philippe P; Ayrignac, Xavier X; Kaphan, Elsa E; Tranchant, Christine C; Cintas, Pascal P; Degardin, Adrian A; Goizet, Cyril C; Laurencin, Chloe C; Martzolff, Lionel L; Tilikete, Caroline C; Anheim, Mathieu M; Audoin, Bertrand B; Deramecourt, Vincent V; De Gaillarbois, Thierry Dubard TD; Roze, Emmanuel E; Lamari, Foudil F; Vanier, Marie T MT; Héron, Bénédicte B

Publication Date: 2018-10-01

Variant appearance in text: NPC1: G992R

PubMed Link: 30285904

Variant Present in the following documents:

• Main text
• 13023_2018_Article_913.pdf

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Consensus clinical management guidelines for Niemann-Pick disease type C.

Orphanet Journal Of Rare Diseases

Geberhiwot, Tarekegn T; Moro, Alessandro A; Dardis, Andrea A; Ramaswami, Uma U; Sirrs, Sandra S; Marfa, Mercedes Pineda MP; Vanier, Marie T MT; Walterfang, Mark M; Bolton, Shaun S; Dawson, Charlotte C; Héron, Bénédicte B; Stampfer, Miriam M; Imrie, Jackie J; Hendriksz, Christian C; Gissen, Paul P; Crushell, Ellen E; Coll, Maria J MJ; Nadjar, Yann Y; Klünemann, Hans H; Mengel, Eugen E; Hrebicek, Martin M; Jones, Simon A SA; Ory, Daniel D; Bembi, Bruno B; Patterson, Marc M; ,

Publication Date: 2018-04-06

Variant appearance in text: NPC1: G992R

PubMed Link: 29625568

Variant Present in the following documents:

• Main text
• 13023_2018_Article_785.pdf

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: N/A

PubMed Link: 28957316

Variant Present in the following documents:

View BVdb publication page

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Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat.

Jimd Reports

Bowman, Elizabeth A EA; Velakoulis, Dennis D; Desmond, Patricia P; Walterfang, Mark M

Publication Date: 2018

Variant appearance in text: NPC1: G992R

PubMed Link: 28710748

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NPC1: 2974G>C; Gly992Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Febs Letters

Mazzacuva, Francesca F; Mills, Philippa P; Mills, Kevin K; Camuzeaux, Stephane S; Gissen, Paul P; Nicoli, Elena-Raluca ER; Wassif, Christopher C; Te Vruchte, Danielle D; Porter, Forbes D FD; Maekawa, Masamitsu M; Mano, Nariyasu N; Iida, Takashi T; Platt, Frances F; Clayton, Peter T PT

Publication Date: 2016-06

Variant appearance in text: NPC1: G992R

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.pdf

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Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.

Journal Of Neurology

Sedel, Frédéric F; Chabrol, Brigitte B; Audoin, Bertrand B; Kaphan, Elsa E; Tranchant, Christine C; Burzykowski, Tomasz T; Tourbah, Ayman A; Vanier, Marie T MT; Galanaud, Damien D

Publication Date: 2016-05

Variant appearance in text: NPC1: G992R

PubMed Link: 26984608

Variant Present in the following documents:

• Main text
• 415_2016_Article_8051.pdf

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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Ebiomedicine

Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T

Publication Date: 2016-02

Variant appearance in text: NPC1: 2974G>C

PubMed Link: 26981555

Variant Present in the following documents:

• mmc1.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NPC1: G992R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NPC1: G992R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.

Case Reports In Neurological Medicine

Piña-Aguilar, Raul E RE; Vera-Loaiza, Aurea A; Chacón-Camacho, Oscar F OF; Zenteno, Juan Carlos JC; Nuñez-Orozco, Lilia L; Santillán-Hernández, Yuritzi Y

Publication Date: 2014

Variant appearance in text: NPC1: 2974G>C; G992R

PubMed Link: 25349751

Variant Present in the following documents:

• Main text
• CRINM2014-785890.pdf

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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Orphanet Journal Of Rare Diseases

Jahnova, Helena H; Dvorakova, Lenka L; Vlaskova, Hana H; Hulkova, Helena H; Poupetova, Helena H; Hrebicek, Martin M; Jesina, Pavel P

Publication Date: 2014-09-19

Variant appearance in text: NPC1: 2974G>C; G992R

PubMed Link: 25236789

Variant Present in the following documents:

• Main text
• 13023_2014_Article_140.pdf

View BVdb publication page

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Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.

Journal Of The Neurological Sciences

Kluenemann, Hans H HH; Nutt, John G JG; Davis, Marie Y MY; Bird, Thomas D TD

Publication Date: 2013-12-15

Variant appearance in text: NPC1: Gly992Arg

PubMed Link: 24035292

Variant Present in the following documents:

• Main text

View BVdb publication page

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Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes.

Jimd Reports

Harzer, Klaus K; Beck-Wödl, Stefanie S; Bauer, Peter P

Publication Date: 2014

Variant appearance in text: NPC1: 2974G>C

PubMed Link: 23821321

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Human Molecular Genetics

Bauer, Peter P; Balding, David J DJ; Klünemann, Hans H HH; Linden, David E J DE; Ory, Daniel S DS; Pineda, Mercè M; Priller, Josef J; Sedel, Frederic F; Muller, Audrey A; Chadha-Boreham, Harbajan H; Welford, Richard W D RW; Strasser, Daniel S DS; Patterson, Marc C MC

Publication Date: 2013-11-01

Variant appearance in text: NPC1: 2974G>C; Gly992Arg

PubMed Link: 23773996

Variant Present in the following documents:

• Main text
• ddt284.pdf

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Multi-system disorders of glycosphingolipid and ganglioside metabolism.

Journal Of Lipid Research

Xu, You-Hai YH; Barnes, Sonya S; Sun, Ying Y; Grabowski, Gregory A GA

Publication Date: 2010-07

Variant appearance in text: NPC1: G992R

PubMed Link: 20211931

Variant Present in the following documents:

• Main text

View BVdb publication page

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Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

American Journal Of Human Genetics

Millat, G G; Chikh, K K; Naureckiene, S S; Sleat, D E DE; Fensom, A H AH; Higaki, K K; Elleder, M M; Lobel, P P; Vanier, M T MT

Publication Date: 2001-11

Variant appearance in text: NPC1: G992R

PubMed Link: 11567215

Variant Present in the following documents:

• Main text

View BVdb publication page

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Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

American Journal Of Human Genetics

Millat, G G; Marçais, C C; Tomasetto, C C; Chikh, K K; Fensom, A H AH; Harzer, K K; Wenger, D A DA; Ohno, K K; Vanier, M T MT

Publication Date: 2001-06

Variant appearance in text: NPC1: G992R

PubMed Link: 11333381

Variant Present in the following documents:

• Main text

View BVdb publication page

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