Publications:

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The Antifungal Antibiotic Filipin as a Diagnostic Tool of Cholesterol Alterations in Lysosomal Storage Diseases and Neurodegenerative Disorders.

Antibiotics (Basel, Switzerland)

Bruno, Francesco F; Camuso, Serena S; Capuozzo, Elisabetta E; Canterini, Sonia S

Publication Date: 2023-01-09

Variant appearance in text: NPC1: P1007A

PubMed Link: 36671323

Variant Present in the following documents:

• Main text
• antibiotics-12-00122.pdf

View BVdb publication page

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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: P1007A

PubMed Link: 35892469

Variant Present in the following documents:

• IJNS-08-00039.pdf

View BVdb publication page

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Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.

Wellcome Open Research

Williams, Isabelle I; Pandey, Sumeet S; Haller, Wolfram W; Huynh, Hien Quoc HQ; Chan, Alicia A; Düeker, Gesche G; Bettels, Ruth R; Peyrin-Biroulet, Laurent L; Dike, Chinenye R CR; DeGeeter, Catherine C; Smith, David D; Al Eisa, Nada N; Platt, Nick N; Marquardt, Thorsten T; Schwerd, Tobias T; Platt, Frances M FM; Uhlig, Holm H HH

Publication Date: 2022

Variant appearance in text: NPC1: 3019C>G; P1007A

PubMed Link: 35694196

Variant Present in the following documents:

• Main text
• wellcomeopenres-7-18754.pdf

View BVdb publication page

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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research

Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR

Publication Date: 2022-06

Variant appearance in text: NPC1: 3019C>G; Pro1007Ala; rs80358257

PubMed Link: 35460704

Variant Present in the following documents:

• mmc1.pdf
• main.pdf

View BVdb publication page

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Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Scientific Reports

Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL

Publication Date: 2022-02-09

Variant appearance in text: NPC1: 3019C>G; P1007A

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

View BVdb publication page

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Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Scientific Reports

Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL

Publication Date: 2022-02-09

Variant appearance in text: NPC1: 3019C>G; P1007A

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

View BVdb publication page

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Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas

Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M

Publication Date: 2022-01-27

Variant appearance in text: NPC1: Pro1007Ala

PubMed Link: 35086560

Variant Present in the following documents:

• Main text
• 41065_2022_Article_224.pdf

View BVdb publication page

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Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas

Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M

Publication Date: 2022-01-27

Variant appearance in text: NPC1: Pro1007Ala

PubMed Link: 35086560

Variant Present in the following documents:

• Main text
• 41065_2022_Article_224.pdf

View BVdb publication page

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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: P1007A

PubMed Link: 34830064

Variant Present in the following documents:

• Main text
• ijms-22-12184.pdf

View BVdb publication page

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Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.

European Journal Of Pediatrics

Marouane, A A; Olde Keizer, R A C M RACM; Frederix, G W J GWJ; Vissers, L E L M LELM; de Boode, W P WP; van Zelst-Stams, W A G WAG

Publication Date: 2022-01

Variant appearance in text: NPC1: 3019C>G; Pro1007Ala

PubMed Link: 34347148

Variant Present in the following documents:

• 431_2021_4213_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.

European Journal Of Neurology

Bremova-Ertl, Tatiana T; Abel, Larry L; Walterfang, Mark M; Salsano, Ettore E; Ardissone, Anna A; Malinová, Věra V; Kolníková, Miriam M; Gascón Bayarri, Jordi J; Reza Tavasoli, Ali A; Reza Ashrafi, Mahmoud M; Amraoui, Yasmina Y; Mengel, Eugen E; Kolb, Stefan A SA; Brecht, Andreas A; Bardins, Stanislavs S; Strupp, Michael M

Publication Date: 2021-09

Variant appearance in text: NPC1: P1007A

PubMed Link: 34096670

Variant Present in the following documents:

• Main text
• ENE-28-3040.pdf

View BVdb publication page

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: NPC1: 3019C>G; Pro1007Ala

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

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: rs80358257

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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Genetics of Progressive Supranuclear Palsy: A Review.

Journal Of Parkinson'S Disease

Wen, Yafei Y; Zhou, Yafang Y; Jiao, Bin B; Shen, Lu L

Publication Date: 2021

Variant appearance in text: NPC1: P1007A

PubMed Link: 33104043

Variant Present in the following documents:

• Main text
• jpd-11-jpd202302.pdf

View BVdb publication page

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Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport.

Journal Of Neurochemistry

Yoon, Hye-Jin HJ; Jeong, Hyunah H; Lee, Hyung Ho HH; Jang, Soonmin S

Publication Date: 2021-03

Variant appearance in text: NPC1: P1007A

PubMed Link: 32880929

Variant Present in the following documents:

• JNC-9999-na.pdf

View BVdb publication page

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Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

International Journal Of Molecular Sciences

Seker Yilmaz, Berna B; Baruteau, Julien J; Rahim, Ahad A AA; Gissen, Paul P

Publication Date: 2020-07-17

Variant appearance in text: NPC1: 3019C>G; P1007A

PubMed Link: 32709131

Variant Present in the following documents:

• Main text
• ijms-21-05059.pdf

View BVdb publication page

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Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.

Medical Journal Of The Islamic Republic Of Iran

Zahedi Abghari, Fateme F; Bayat, Fatemeh F; Razipour, Masoumeh M; Karimipoor, Morteza M; Taghavi-Basmenj, Maryam M; Zeinali, Sirous S; Davoudi-Dehaghani, Elham E

Publication Date: 2019

Variant appearance in text: NPC1: 3019C>G; Pro1007Ala

PubMed Link: 32280632

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

Orphanet Journal Of Rare Diseases

Musalkova, Dita D; Majer, Filip F; Kuchar, Ladislav L; Luksan, Ondrej O; Asfaw, Befekadu B; Vlaskova, Hana H; Storkanova, Gabriela G; Reboun, Martin M; Poupetova, Helena H; Jahnova, Helena H; Hulkova, Helena H; Ledvinova, Jana J; Dvorakova, Lenka L; Sikora, Jakub J; Jirsa, Milan M; Vanier, Marie T MT; Hrebicek, Martin M

Publication Date: 2020-04-05

Variant appearance in text: NPC1: P1007A

PubMed Link: 32248828

Variant Present in the following documents:

• Main text
• 13023_2020_1360_MOESM1_ESM.pdf
• 13023_2020_Article_1360.pdf

View BVdb publication page

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Retinal axonal degeneration in Niemann-Pick type C disease.

Journal Of Neurology

Havla, Joachim J; Moser, Marlene M; Sztatecsny, Clara C; Lotz-Havla, Amelie S AS; Maier, Esther M EM; Hizli, Baccara B; Schinner, Regina R; Kümpfel, Tania T; Strupp, Michael M; Bremova-Ertl, Tatiana T; Schneider, Susanne A SA

Publication Date: 2020-07

Variant appearance in text: NPC1: 3019C>G; P1007A

PubMed Link: 32222928

Variant Present in the following documents:

• Main text

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: P1007A

PubMed Link: 32138288

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.

Disease Models & Mechanisms

Rodriguez-Gil, Jorge L JL; Watkins-Chow, Dawn E DE; Baxter, Laura L LL; Elliot, Gene G; Harper, Ursula L UL; Wincovitch, Stephen M SM; Wedel, Julia C JC; Incao, Arturo A AA; Huebecker, Mylene M; Boehm, Frederick J FJ; Garver, William S WS; Porter, Forbes D FD; Broman, Karl W KW; Platt, Frances M FM; Pavan, William J WJ

Publication Date: 2020-03-13

Variant appearance in text: NPC1: P1007A

PubMed Link: 31996359

Variant Present in the following documents:

• Main text

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: NPC1: 3019C>G; Pro1007Ala

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases.

Bmc Medicine

Schultz, Mark L ML; Fawaz, Maria V MV; Azaria, Ruth D RD; Hollon, Todd C TC; Liu, Elaine A EA; Kunkel, Thaddeus J TJ; Halseth, Troy A TA; Krus, Kelsey L KL; Ming, Ran R; Morin, Emily E EE; McLoughlin, Hayley S HS; Bushart, David D DD; Paulson, Henry L HL; Shakkottai, Vikram G VG; Orringer, Daniel A DA; Schwendeman, Anna S AS; Lieberman, Andrew P AP

Publication Date: 2019-11-11

Variant appearance in text: NPC1: P1007A

PubMed Link: 31711490

Variant Present in the following documents:

• Main text
• 12916_2019_Article_1423.pdf

View BVdb publication page

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Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.

Nature Communications

Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE

Publication Date: 2019-11-07

Variant appearance in text: NPC1: P1007A

PubMed Link: 31699992

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity.

The Journal Of Cell Biology

Tiscione, Scott A SA; Vivas, Oscar O; Ginsburg, Kenneth S KS; Bers, Donald M DM; Ory, Daniel S DS; Santana, Luis F LF; Dixon, Rose E RE; Dickson, Eamonn J EJ

Publication Date: 2019-12-02

Variant appearance in text: NPC1: P1007A

PubMed Link: 31601621

Variant Present in the following documents:

• Main text

View BVdb publication page

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Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.

Human Molecular Genetics

Wang, Chao C; Scott, Samantha M SM; Sun, Shuhong S; Zhao, Pei P; Hutt, Darren M DM; Shao, Hao H; Gestwicki, Jason E JE; Balch, William E WE

Publication Date: 2020-01-01

Variant appearance in text: NPC1: P1007A

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

View BVdb publication page

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Late-onset Niemann-Pick disease type C overlapping with frontotemporal dementia syndromes: a case report.

Journal Of Neural Transmission (Vienna, Austria : 1996)

Balázs, Nóra N; Milanovich, Dániel D; Hornyák, Csilla C; Bereczki, Dániel D; Kovács, Tibor T

Publication Date: 2019-11

Variant appearance in text: NPC1: P1007A

PubMed Link: 31506735

Variant Present in the following documents:

• Main text
• 702_2019_Article_2058.pdf

View BVdb publication page

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Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice.

Embo Reports

Moreau, Dimitri D; Vacca, Fabrizio F; Vossio, Stefania S; Scott, Cameron C; Colaco, Alexandria A; Paz Montoya, Jonathan J; Ferguson, Charles C; Damme, Markus M; Moniatte, Marc M; Parton, Robert G RG; Platt, Frances M FM; Gruenberg, Jean J

Publication Date: 2019-07

Variant appearance in text: NPC1: P1007A

PubMed Link: 31267706

Variant Present in the following documents:

• Main text

View BVdb publication page

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Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.

Metabolic Brain Disease

Sitarska, Dominika D; Ługowska, Agnieszka A

Publication Date: 2019-10

Variant appearance in text: NPC1: Pro1007Ala

PubMed Link: 31197681

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Genetics And Molecular Biology

Málaga, Diana Rojas DR; Brusius-Facchin, Ana Carolina AC; Siebert, Marina M; Pasqualim, Gabriela G; Saraiva-Pereira, Maria Luiza ML; Souza, Carolina F M de CFM; Schwartz, Ida V D IVD; Matte, Ursula U; Giugliani, Roberto R

Publication Date: 2019

Variant appearance in text: NPC1: 3019C>G; Pro1007Ala; rs80358257

PubMed Link: 30985853

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-1678-4685-GMB-2018-0092.pdf

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: 3019C>G; Pro1007Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization.

Scientific Reports

Shammas, Hadeel H; Kuech, Eva-Maria EM; Rizk, Sandra S; Das, Anibh M AM; Naim, Hassan Y HY

Publication Date: 2019-03-28

Variant appearance in text: NPC1: P1007A

PubMed Link: 30923329

Variant Present in the following documents:

• Main text
• 41598_2019_41707_MOESM1_ESM.pdf
• 41598_2019_Article_41707.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: NPC1: P1007A; rs80358257

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.

Nature Communications

Schultz, Mark L ML; Krus, Kelsey L KL; Kaushik, Susmita S; Dang, Derek D; Chopra, Ravi R; Qi, Ling L; Shakkottai, Vikram G VG; Cuervo, Ana Maria AM; Lieberman, Andrew P AP

Publication Date: 2018-09-10

Variant appearance in text: NPC1: P1007A

PubMed Link: 30202070

Variant Present in the following documents:

• Main text
• 41467_2018_Article_6115.pdf
• 41467_2018_6115_MOESM1_ESM.pdf
• 41467_2018_6115_MOESM2_ESM.pdf

View BVdb publication page

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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: P1007A

PubMed Link: 29625568

Variant Present in the following documents:

• Main text
• 13023_2018_Article_785.pdf

View BVdb publication page

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Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

Dementia And Geriatric Cognitive Disorders

Blue, Elizabeth E EE; Bis, Joshua C JC; Dorschner, Michael O MO; Tsuang, Debby W DW; Barral, Sandra M SM; Beecham, Gary G; Below, Jennifer E JE; Bush, William S WS; Butkiewicz, Mariusz M; Cruchaga, Carlos C; DeStefano, Anita A; Farrer, Lindsay A LA; Goate, Alison A; Haines, Jonathan J; Jaworski, Jim J; Jun, Gyungah G; Kunkle, Brian B; Kuzma, Amanda A; Lee, Jenny J JJ; Lunetta, Kathryn L KL; Ma, Yiyi Y; Martin, Eden E; Naj, Adam A; Nato, Alejandro Q AQ; Navas, Patrick P; Nguyen, Hiep H; Reitz, Christiane C; Reyes, Dolly D; Salerno, William W; Schellenberg, Gerard D GD; Seshadri, Sudha S; Sohi, Harkirat H; Thornton, Timothy A TA; Valadares, Otto O; van Duijn, Cornelia C; Vardarajan, Badri N BN; Wang, Li-San LS; Boerwinkle, Eric E; Dupuis, Josée J; Pericak-Vance, Margaret A MA; Mayeux, Richard R; Wijsman, Ellen M EM; ,

Publication Date: 2018

Variant appearance in text: rs80358257

PubMed Link: 29486463

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Neurology. Clinical Practice

Patterson, Marc C MC; Clayton, Peter P; Gissen, Paul P; Anheim, Mathieu M; Bauer, Peter P; Bonnot, Olivier O; Dardis, Andrea A; Dionisi-Vici, Carlo C; Klünemann, Hans-Hermann HH; Latour, Philippe P; Lourenço, Charles M CM; Ory, Daniel S DS; Parker, Alasdair A; Pocoví, Miguel M; Strupp, Michael M; Vanier, Marie T MT; Walterfang, Mark M; Marquardt, Thorsten T

Publication Date: 2017-12

Variant appearance in text: NPC1: P1007A

PubMed Link: 29431164

Variant Present in the following documents:

• Main text
• NEURCLINPRACT2017021501.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: NPC1: 3019C>G; Pro1007Ala; rs80358257

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran.

Iranian Journal Of Child Neurology

Noroozi Asl, Samaneh S; Vakili, Rahim R; Ghaemi, Nosrat N; Eshraghi, Peyman P

Publication Date: 2017

Variant appearance in text: NPC1: P1007A

PubMed Link: 28883878

Variant Present in the following documents:

• Main text
• ijcn-11-053.pdf

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: 3019C>G; Pro1007Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.

Bmc Medical Genetics

Bountouvi, Evangelia E; Papadopoulou, Anna A; Vanier, Marie T MT; Nyktari, Georgia G; Kanellakis, Spyridon S; Michelakakis, Helen H; Dinopoulos, Argyrios A

Publication Date: 2017-05-04

Variant appearance in text: NPC1: P1007A

PubMed Link: 28472934

Variant Present in the following documents:

• Main text
• 12881_2017_Article_409.pdf

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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult.

Frontiers In Neurology

Piroth, Tobias T; Boelmans, Kai K; Amtage, Florian F; Rijntjes, Michel M; Wierciochin, Anna A; Musacchio, Thomas T; Weiller, Cornelius C; Volkmann, Jens J; Klebe, Stephan S

Publication Date: 2017

Variant appearance in text: NPC1: P1007A

PubMed Link: 28421028

Variant Present in the following documents:

• Main text

View BVdb publication page

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