Works matching Pick's disease

Results: 2134

Вариация на cherry red spot при болестта на Niemann-Pick – клиничен случай.

Published in:

Medical Review / Meditsinski Pregled, 2023, v. 59, n. 4, p. 60

By:

Оскар, А.;
Славчев, С.;
Импалиатели, П.;
Лазарова, Е.;
Марков, Г.;
Димитрова, Г.

Publication type:

Article

Enfermedad de Niemann-Pick tipo B. Estudio de tres casos y revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2014, v. 35, n. 1, p. 30

By:

Zarco-Román, Jorge;
García-Pérez, Alva Nydia;
Andrade-Aldama, Paulina;
Carbajal-Rodríguez, Luis;
Rodríguez-Herrera, Raymundo

Publication type:

Article

Niemann-Pick hastalaca tip A ve tip B: İki olgu sunumu.

Published in:

Marmara Medical Journal, 2014, v. 27, n. 1, p. 54, doi. 10.5472/MMJ.2013.02845.2

By:

ZORLU, Pelin;
UÇAR, Şit;
YARALI, Nece;
DEMİRÇEKEN, Fulya

Publication type:

Article

Lung cyst: An unusual manifestation of Niemann–Pick disease.

Published in:

Respirology, 2009, v. 14, n. 1, p. 134, doi. 10.1111/j.1440-1843.2008.01352.x

By:

BALDI, Bruno G.;
SANTANA, Alfredo N.C.;
TAKAGAKI, Teresa Y.;
FUJITA, Carmem;
KAIRALLA, Ronaldo A.;
CARVALHO, Carlos R.R.

Publication type:

Article

Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00043-0

By:

Neissi, Mostafa;
Al-Badran, Adnan Issa;
Mohammadi-Asl, Misagh;
Al-Badran, Raed Abdulelah;
Sheikh-Hosseini, Motahareh;
Roghani, Mojdeh;
Mohammadi-Asl, Javad

Publication type:

Article

Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C: Iranian Pediatric Case Series.

Published in:

2013

By:

Karimzadeh, Parvaneh;
Tonekaboni, Seyed Hassan;
Ashrafi, Mahmoud Reza;
Shafeghati, Yousef;
Rezayi, Alireza;
Salehpour, Shadab;
Ghofrani, Mohammad;
Taghdiri, Mohammad Mehdi;
Rahmanifar, Ali;
Zaman, Talieh;
Aryani, Omid;
Shoar, Babak Najaf;
Shiva, Farideh;
Tavasoli, Alireza;
Houshmand, Massoud

Publication type:

Case Study

Niemann-Pick Disease Type C: Implications for Sedation and Anesthesia for Diagnostic Procedures.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 12, p. 1541, doi. 10.1177/0883073812437243

By:

Miao, Ning;
Lu, Xiaowei;
O’Grady, Naomi P.;
Yanjanin, Nicole;
Porter, Forbes D.;
Quezado, Zenaide M. N.

Publication type:

Article

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 3, p. 300, doi. 10.1177/0883073809344222

By:

Patterson, Marc C.;
Vecchio, Darleen;
Jacklin, Elizabeth;
Abel, Larry;
Chadha-Boreham, Harbajan;
Luzy, Cecile;
Giorgino, Ruben;
Wraith, James E.

Publication type:

Article

Priapism associated with Niemann-Pick disease in a 15-year-old boy.

Published in:

2011

By:

V., Krishna Shetty M.;
M., Udaya Kumar;
Sen, T. K.

Publication type:

Case Study

Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches.

Published in:

Cell Biochemistry & Function, 2024, v. 42, n. 4, p. 1, doi. 10.1002/cbf.4028

By:

Hosseini, Kamran;
Fallahi, Jafar;
Razban, Vahid;
Sirat, Reyhaneh Zayyani;
Varasteh, Mahnaz;
Tarhriz, Vahideh

Publication type:

Article

Niemann–Pick disease type C1 presenting with psychosis in an adolescent male.

Published in:

2009

By:

Sandu, Sabine;
Jackowski-Dohrmann, Sabine;
Ladner, Axel;
Haberhausen, Michael;
Bachmann, Christian

Publication type:

Report

Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brain.

Published in:

Journal of Pathology, 2003, v. 200, n. 1, p. 104, doi. 10.1002/path.1320

By:

Distl, Roland;
Treiber-Held, Stephanie;
Albert, Frank;
Meske, Volker;
Harzer, Klaus;
Ohm, Thomas G

Publication type:

Article

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.

Published in:

BMC Infectious Diseases, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12879-024-09025-5

By:

Tao, Chaoxin;
Zhao, Min;
Zhang, Xiaohui;
Hao, Jihong;
Huo, Qiuyue;
Sun, Jie;
Xing, Jiangtao;
Zhang, Yuna;
Zhao, Jianhong;
Huang, Huaipeng

Publication type:

Article

Two Cases of Niemann-Pick Disease Type C Presenting with Neonatal Cholestasis: Case Reports.

Published in:

2023

By:

Bhanu, Yaseena;
Kasula, Linga Reddy;
Kotha, Rakesh;
Madireddy, Alimelu

Publication type:

Case Study

Náhodný nález splenomegalie jako hlavní příznak vedoucí k diagnóze Niemann-Pickovy choroby typu B u dospělého pacienta.

Published in:

Medicina Pro Praxi, 2023, v. 20, n. 2, p. 112, doi. 10.36290/med.2023.016

By:

Ješina, Pavel;
Kopecká, Alena

Publication type:

Article

Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review.

Published in:

Lung (0341-2040), 2016, v. 194, n. 4, p. 511, doi. 10.1007/s00408-016-9893-0

By:

Ranke, Felipe;
Pereira Freitas, Heloisa;
Mançano, Alexandre;
Rodrigues, Rosana;
Hochhegger, Bruno;
Escuissato, Dante;
Araujo Neto, Cesar;
Silva, Thiago;
Marchiori, Edson

Publication type:

Article

First prenatal Diagnosis of a Niemann–pick Disease type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature.

Published in:

2018

By:

Ples, Liana;
Sima, Romina-Marina;
Nedelea, Florina;
Moga, Marius

Publication type:

Case Study

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.

Published in:

2022

By:

Kavčič, Alja;
Homan, Matjaž;
Živanović, Milanka;
Debeljak, Maruša;
Butenko, Tita;
Torkar, Ana Drole;
Tanšek, Mojca Žerjav;
Bertok, Sara;
Battelino, Tadej;
Groselj, Urh

Publication type:

Case Study

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1.

Published in:

BMC Biology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12915-021-01133-x

By:

Prabhu, Anika V.;
Kang, Insung;
De Pace, Raffaella;
Wassif, Christopher A.;
Fujiwara, Hideji;
Kell, Pamela;
Jiang, Xuntian;
Ory, Daniel S.;
Bonifacino, Juan S.;
Ward, Michael E.;
Porter, Forbes D.

Publication type:

Article

Systemic lupus erythematosus occurring in a patient with Niemann–Pick type B disease.

Published in:

2015

By:

Murgia, G.;
Firinu, D.;
Meleddu, R.;
Lorrai, M. M.;
Manconi, P. E.;
del Giacco, S. R.

Publication type:

Case Study

Niemann-Pick disease.

Published in:

International Journal of Child Health & Human Development, 2020, v. 13, n. 3, p. 273

By:

Saeedian, Jasmine;
Hekmatjah, Joshua

Publication type:

Article

Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.

Published in:

Pakistan Journal of Medical Sciences, 2020, v. 36, n. 3, p. 479, doi. 10.12669/pjms.36.3.467

By:

Cheema, Huma Arshad;
Rasool, Iqra Ghulam;
Anjum, Muhammad Nadeem;
Zahoor, Muhammad Yasir

Publication type:

Article

Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.

Published in:

Journal of Neurology, 2015, v. 262, n. 3, p. 642, doi. 10.1007/s00415-014-7619-x

By:

Benussi, Alberto;
Alberici, Antonella;
Premi, Enrico;
Bertasi, Valeria;
Cotelli, Maria;
Turla, Marinella;
Dardis, Andrea;
Zampieri, Stefania;
Marchina, Eleonora;
Paghera, Barbara;
Gallivanone, Francesca;
Castiglioni, Isabella;
Padovani, Alessandro;
Borroni, Barbara

Publication type:

Article

Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease.

Published in:

Animals (2076-2615), 2023, v. 13, n. 11, p. 1744, doi. 10.3390/ani13111744

By:

Rakib, Tofazzal Md;
Islam, Md Shafiqul;
Uddin, Mohammad Mejbah;
Rahman, Mohammad Mahbubur;
Yabuki, Akira;
Yamagami, Tetsushi;
Morozumi, Motoji;
Uchida, Kazuyuki;
Maki, Shinichiro;
Faruq, Abdullah Al;
Yamato, Osamu

Publication type:

Article

Neuroprotective effects of Cerebrolysin in triple repeat Tau transgenic model of Pick's disease and fronto-temporal tauopathies.

Published in:

2015

By:

Rockenstein, Edward;
Ubhi, Kiren;
Mante, Michael;
Florio, Jazmin;
Adame, Anthony;
Winter, Stefan;
Brandstaetter, Hemma;
Meier, Dieter;
Masliah, Eliezer

Publication type:

journal article

An autopsy case of incipient Pick's disease: Immunohistochemical profile of early-stage Pick body formation.

Published in:

Neuropathology, 2014, v. 34, n. 4, p. 386, doi. 10.1111/neup.12104

By:

Miki, Yasuo;
Mori, Fumiaki;
Tanji, Kunikazu;
Kurotaki, Hidekachi;
Kakita, Akiyoshi;
Takahashi, Hitoshi;
Wakabayashi, Koichi

Publication type:

Article

Niemann- Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case.

Published in:

Neuropathology, 2014, v. 34, n. 1, p. 49, doi. 10.1111/neup.12047

By:

Chiba, Yoichi;
Komori, Hiraku;
Takei, Shiro;
Hasegawa‐Ishii, Sanae;
Kawamura, Noriko;
Adachi, Kaori;
Nanba, Eiji;
Hosokawa, Masanori;
Enokido, Yasushi;
Kouchi, Zen;
Yoshida, Futoshi;
Shimada, Atsuyoshi

Publication type:

Article

Pathological and biochemical studies on a case of Pick disease with severe white matter atrophy.

Published in:

Neuropathology, 2006, v. 26, n. 6, p. 586, doi. 10.1111/j.1440-1789.2006.00738.x

By:

Yamakawa, Kazuo;
Takanashi, Masashi;
Watanabe, Masao;
Nakamura, Noriyuki;
Kobayashi, Tomonori;
Hasegawa, Masato;
Mizuno, Yoshikuni;
Tanaka, Shigeki;
Mori, Hideo

Publication type:

Article

Manifestações clínicas presentes na doença de Niemann-Pick tipo c em diferentes faixas etárias: uma revisão da literatura.

Published in:

Revista Sustinere, 2021, v. 9, p. 173, doi. 10.12957/sustinere.2021.50914

By:

Lira da Silva, Barbara Beatriz;
Rodrigues Alves, Ana Klara;
de Brito Pereira, Raquel;
Rodrigues Alve, Ana Karla;
Sampaio Teixeira, Kelly Sivocy

Publication type:

Article

Niemann-Pick disease type C2 protein induces autophagy and inhibits growth in FM3A breast cancer cells.

Published in:

Drug Discoveries & Therapeutics, 2015, v. 9, n. 4, p. 282, doi. 10.5582/ddt.2015.01014

By:

Adachi, Tatsuo;
Matsumoto, Yasuhiko;
Inagaki, Yoshinori;
Sekimizu, Kazuhisa

Publication type:

Article

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 543, doi. 10.1111/cge.12200

By:

Mavridou, I.;
Cozar, M.;
Douzgou, S.;
Xaidara, A.;
Lianou, D.;
Vanier, M.T.;
Dimitriou, E.;
Grinberg, D.;
Vilageliu, L.;
Michelakakis, H.

Publication type:

Article

Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 356, doi. 10.1111/cge.12076

By:

Irun, P;
Mallén, M;
Dominguez, C;
Rodriguez‐Sureda, V;
Alvarez‐Sala, LA;
Arslan, N;
Bermejo, N;
Guerrero, C;
Perez de Soto, I;
Villalón, L;
Giraldo, P;
Pocovi, M

Publication type:

Article

A Case with Niemann-Pick Disease and Concomitant Kartagener's Syndrome.

Published in:

Erciyes Medical Journal / Erciyes Tip Dergisi, 2013, v. 35, n. 3, p. 174, doi. 10.5152/etd.2013.29

By:

Keklik, Muzaffer;
Şıvgın, Serdar;
Baldane, Süleyman;
Yıldırım, Afra;
Kontaş, Olgun;
Kardaş, Fatih;
Pala, Çiğdem;
Çetin, Mustafa;
Ünal, Ali

Publication type:

Article

Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene.

Published in:

Veterinary Pathology, 2020, v. 57, n. 4, p. 559, doi. 10.1177/0300985820921810

By:

Takaichi, Yuta;
Chambers, James K.;
Kok, Mun Keong;
Uchiyama, Hiroki;
Haritani, Makoto;
Hasegawa, Daisuke;
Nakayama, Hiroyuki;
Uchida, Kazuyuki

Publication type:

Article

Case Report: Be Aware of "New" Features of Niemann–Pick Disease: Insights From Two Pediatric Cases.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.845246

By:

Chen, Fan;
Guo, Shan;
Li, Xuesong;
Liu, Shengxuan;
Wang, Li;
Zhang, Victor Wei;
Xu, Hui;
Huang, Zhihua;
Ying, Yanqin;
Shu, Sainan

Publication type:

Article

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.

Published in:

2016

By:

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

Publication type:

journal article

Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.

Published in:

2016

By:

Degtyareva, A. V.;
Mikhailova, S. V.;
Zakharova, E. Y.;
Tumanova, E. L.;
Puchkova, A. A.

Publication type:

journal article

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report.

Published in:

2012

By:

Skorpen, Johannes;
Helland, Ingrid B.;
Tenn›e, Bj›rn;
Tennøe, Bjørn

Publication type:

journal article

Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann–Pick disease type A.

Published in:

Journal of Neurochemistry, 2009, v. 109, n. 1, p. 105, doi. 10.1111/j.1471-4159.2009.05947.x

By:

Buccinnà, Barbara;
Piccinini, Marco;
Prinetti, Alessandro;
Scandroglio, Federica;
Prioni, Simona;
Valsecchi, Manuela;
Votta, Barbara;
Grifoni, Silvia;
Lupino, Elisa;
Ramondetti, Cristina;
Schuchman, Edward H.;
Giordana, Maria Teresa;
Sonnino, Sandro;
Rinaudo, Maria Teresa

Publication type:

Article

Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelines.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03479-1

By:

Rasmussen, Charlotte Laurfelt Munch;
Burkhart, Annette;
Moos, Torben;
Thomsen, Louiza Bohn

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1906

By:

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

Publication type:

Article

Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report.

Published in:

Annals of Rehabilitation Medicine, 2019, v. 43, n. 5, p. 621, doi. 10.5535/arm.2019.43.5.621

By:

Eun Jae Ko;
In Young Sung;
Han-Wook Yoo

Publication type:

Article

Niemann-Pick disease type C in the newborn period: a single-center experience.

Published in:

2017

By:

Gumus, Ersin;
Haliloglu, Goknur;
Karhan, Asuman;
Demir, Hulya;
Gurakan, Figen;
Topcu, Meral;
Yuce, Aysel;
Karhan, Asuman Nur

Publication type:

journal article

Type a Niemann-Pick Disease. Description of Three Cases with Delayed Myelination.

Published in:

Neuroradiology Journal, 2008, v. 21, n. 3, p. 309, doi. 10.1177/197140090802100303

By:

d'Amico, A.;
Sibilio, M.;
Caranci, F.;
Bartiromo, F.;
Taurisano, R.;
Balivo, F.;
Melis, D.;
Parenti, G.;
Cirillo, S.;
Elefante, R.;
Brunetti, A.

Publication type:

Article

Tau Inclusions in Alzheimer's, Chronic Traumatic Encephalopathy and Pick's Disease. A Speculation on How Differences in Backbone Polarization Underlie Divergent Pathways of Tau Aggregation.

Published in:

Frontiers in Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnins.2019.00488

By:

Cieplak, Andrzej Stanisław

Publication type:

Article

Cognitive impairment profile in adult patients with Niemann pick type C disease.

Published in:

2017

By:

Heitz, Camille;
Epelbaum, Stéphane;
Nadjar, Yann

Publication type:

journal article

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0284-z

By:

Patterson, Marc C.;
Mengel, Eugen;
Vanier, Marie T.;
Schwierin, Barbara;
Muller, Audrey;
Cornelisse, Peter;
Pineda, Mercè

Publication type:

Article

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y

By:

Fecarotta, Simona;
Romano, Alfonso;
Casa, Roberto Della;
Giudice, Ennio Del;
Bruschini, Diana;
Mansi, Giuseppina;
Bembi, Bruno;
Dardis, Andrea;
Fiumara, Agata;
Rocco, Maja Di;
Uziel, Graziella;
Ardissone, Anna;
Roccatello, Dario;
Alpa, Mirella;
Bertini, Enrico;
D'Amico, Adele;
Dionisi-Vici, Carlo;
Deodato, Federica;
Caviglia, Stefania;
Federico, Antonio

Publication type:

Article

Ultrasensitive and selective detection of 3-repeat tau seeding activity in Pick disease brain and cerebrospinal fluid.

Published in:

Acta Neuropathologica, 2017, v. 133, n. 5, p. 751, doi. 10.1007/s00401-017-1692-z

By:

Saijo, Eri;
Ghetti, Bernardino;
Zanusso, Gianluigi;
Oblak, Adrian;
Furman, Jennifer;
Diamond, Marc;
Kraus, Allison;
Caughey, Byron

Publication type:

Article

Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.

Published in:

Reports of Biochemistry & Molecular Biology, 2023, v. 12, n. 3, p. 386

By:

Alipouran, Fatemeh;
Karimiani, Ehsan Ghayoor;
Khayatzadeh, Jina

Publication type:

Article