Works matching DE "BARTH syndrome"

Results: 70

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Published in:

2015

By:

Sato, Takeshi;
Muroya, Koji;
Hanakawa, Junko;
Iwano, Reiko;
Asakura, Yumi;
Tanaka, Yukichi;
Murayama, Kei;
Ohtake, Akira;
Hasegawa, Tomonobu;
Adachi, Masanori

Publication type:

journal article

Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 3, p. 515, doi. 10.1007/s00431-011-1597-0

By:

Momoi, Nobuo;
Chang, Bo;
Takeda, Izumi;
Aoyagi, Yoshimichi;
Endo, Kisei;
Ichida, Fukiko

Publication type:

Article

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium.

Published in:

2011

By:

Takeda, Atsuhito;
Sudo, Akira;
Yamada, Masafumi;
Yamazawa, Hirokuni;
Izumi, Gaku;
Nishino, Ichizo;
Ariga, Tadashi

Publication type:

journal article

Eponym: Barth syndrome.

Published in:

2011

By:

Takeda, Atsuhito;
Sudo, Akira;
Yamada, Masafumi;
Yamazawa, Hirokuni;
Izumi, Gaku;
Nishino, Ichizo;
Ariga, Tadashi

Publication type:

journal article

Evaluation of cardiolipin nanodisks as lipid replacement therapy for Barth syndrome.

Published in:

Journal of Biomedical Research, 2018, v. 32, n. 2, p. 107, doi. 10.7555/JBR.32.20170094

By:

Ikon, Nikita;
Fong-Fu Hsu;
Shearer, Jennifer;
Forte, Trudy M.;
Ryan, Robert O.

Publication type:

Article

Peak oxygen uptake (VO<sub>2peak</sub>) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studies.

Published in:

PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197776

By:

Cade, William Todd;
Bohnert, Kathryn L.;
Reeds, Dominic N.;
Peterson, Linda R.;
Bittel, Adam J.;
Bashir, Adil;
Byrne, Barry J.;
Taylor, Carolyn L.

Publication type:

Article

Cardiolipin remodeling: a regulatory hub for modulating cardiolipin metabolism and function.

Published in:

Journal of Bioenergetics & Biomembranes, 2016, v. 48, n. 2, p. 113, doi. 10.1007/s10863-014-9591-7

By:

Ye, Cunqi;
Shen, Zheni;
Greenberg, Miriam

Publication type:

Article

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome.

Published in:

2019

By:

Hornby, Brittany;
McClellan, Rebecca;
Buckley, Lucy;
Carson, Kimberley;
Gooding, Tiffany;
Vernon, Hilary J.

Publication type:

journal article

Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection.

Published in:

Nature Medicine, 2014, v. 20, n. 6, p. 585, doi. 10.1038/nm.3592

By:

Raval, Kunil K;
Kamp, Timothy J

Publication type:

Article

Barth syndrome mutations that cause tafazzin complex lability.

Published in:

Journal of Cell Biology, 2011, v. 192, n. 3, p. 447, doi. 10.1083/jcb.201008177

By:

Claypool, Steven M.;
Whited, Kevin;
Srijumnong, Santi;
Xianlin Han;
Koehler, Carla M.

Publication type:

Article

The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module.

Published in:

Occupational Therapy International, 2023, p. 1, doi. 10.1155/2023/5588935

By:

Lim, Yoonjeong;
Hong, Ickpyo;
Han, Areum

Publication type:

Article

The Role of Cardiolipin in Cardiovascular Health.

Published in:

2015

By:

Shen, Zheni;
Ye, Cunqi;
McCain, Keanna;
Greenberg, Miriam L.

Publication type:

journal article

Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome.

Published in:

Pediatric Transplantation, 2013, v. 17, n. 2, p. E46, doi. 10.1111/petr.12027

By:

Dedieu, Nathalie;
Giardini, Alessandro;
Steward, Colin G.;
Fenton, Matthew;
Karimova, Ann;
Hsia, T. Y.;
Burch, Michael

Publication type:

Article

Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence.

Published in:

Interdisciplinary Sciences: Computational Life Sciences, 2015, v. 7, n. 1, p. 21, doi. 10.1007/s12539-013-0019-6

By:

Debnath, Surajit;
Addya, Soma

Publication type:

Article

Cardiac Metabolic Pathways Affected in the Mouse Model of Barth Syndrome.

Published in:

PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128561

By:

Huang, Yan;
Powers, Corey;
Madala, Satish K.;
Greis, Kenneth D.;
Haffey, Wendy D.;
Towbin, Jeffrey A.;
Purevjav, Enkhsaikhan;
Javadov, Sabzali;
Strauss, Arnold W.;
Khuchua, Zaza

Publication type:

Article

Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis.

Published in:

PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0131066

By:

Cadalbert, Laurence C.;
Ghaffar, Farah Naz;
Stevenson, David;
Bryson, Sheila;
Vaz, Frédéric M.;
Gottlieb, Eyal;
Strathdee, Douglas

Publication type:

Article

Caspase-8 Binding to Cardiolipin in Giant Unilamellar Vesicles Provides a Functional Docking Platform for Bid.

Published in:

PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055250

By:

Jalmar, Olivier;
François-Moutal, Liberty;
García-Sáez, Ana-Jesus;
Perry, Mark;
Granjon, Thierry;
Gonzalvez, François;
Gottlieb, Eyal;
Ayala-Sanmartin, Jesus;
Klösgen, Beate;
Schwille, Petra;
Petit, Patrice X.

Publication type:

Article

Cardiomyopathy in a male patient with neutropenia and growth delay.

Published in:

Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/1824-7288-40-45

By:

Folsi, Veronica;
Miglietti, Nunzia;
Lombardi, Annamaria;
Boccacci, Sara;
Utyatnikova, Tatiana;
Donati, Chiara;
Squassabia, Livia;
Gazzola, Laura;
Bosio, Ilaria;
Borghi, Adele;
Grassi, Veronica;
Notarangelo, Lucia D.;
Plebani, Alessandro

Publication type:

Article

Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.

Published in:

Croatian Medical Journal, 2018, v. 59, n. 1, p. 20, doi. 10.3325/cmj.2018.59.20

By:

Musani, Vesna;
Ozretić, Petar;
Trnski, Diana;
Sabol, Maja;
Poduje, Sanja;
Tošić, Mateja;
Šitum, Mirna;
Levanat, Sonja

Publication type:

Article

Histoanatomical aspects of Echinodorus ozelot (Barth) Dessau (Alismataceae) vegetative organs.

Published in:

Annals of the Romanian Society for Cell Biology, 2017, v. 21, n. 3, p. 1

By:

BERCU, R.;
POPOVICIU, D. R.;
BAVARU, A.

Publication type:

Article

Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies.

Published in:

Frontiers in Genetics, 2016, p. 1, doi. 10.3389/fgene.2015.00359

By:

Andreau, Karine;
Armand, Anne-Sophie;
Petit, Patrice X.;
Saric, Ana;
Møller, Ian M.

Publication type:

Article

IDENTIFICATION OF A NOVEL MUTATION OF THE TAZ GENE IN A KOREAN PATIENT WITH BARTH SYNDROME.

Published in:

Journal of Cardiovascular Ultrasound, 2016, v. 24, n. 2, p. 153, doi. 10.4250/jcu.2016.24.2.153

By:

TAE YEON YOO;
MOCK RYEON KIM;
JAE SUNG SON;
RAN LEE;
SUN HWAN BAE;
SOCHUNG CHUNG;
KYO SUN KIM;
MOON-WOO SEONG;
SUNG SUP PARK

Publication type:

Article

Cardiolipin as key lipid of mitochondria in health and disease, Bari, Italy, September 17, 2013.

Published in:

European Journal of Lipid Science & Technology, 2013, v. 115, n. 12, p. 1501, doi. 10.1002/ejlt.201300385

By:

Corcelli, Angela;
Schlame, Michael

Publication type:

Article

Ostium secundum atrial septal defect-related post-partum death of an adult: An autopsy case.

Published in:

Dicle Medical Journal / Dicle Tip Dergisi, 2012, v. 39, n. 3, p. 431, doi. 10.5798/diclemedj.0921.2012.03.0174

By:

Yılmaz, Eyyüp;
Ersoy, Gökhan;
Gürpınar, S.Serhat;
Tavşanoğlu, Sedat

Publication type:

Article

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 461, doi. 10.1111/cge.12756

By:

Ferri, L.;
Dionisi‐Vici, C.;
Taurisano, R.;
Vaz, F. M.;
Guerrini, R.;
Morrone, A.

Publication type:

Article

Psychosocial functioning in Barth syndrome: Assessment of individual and parental adjustment.

Published in:

Children's Health Care, 2017, v. 46, n. 1, p. 66, doi. 10.1080/02739615.2015.1124768

By:

Jacob, Marni L.;
Johnco, Carly;
Dane, Brittney F.;
Collier, Amanda;
Storch, Eric A.

Publication type:

Article

Characterization of pain in patients with Barth syndrome.

Published in:

Children's Health Care, 2016, v. 45, n. 2, p. 192, doi. 10.1080/02739615.2014.996882

By:

Taylor, Damani;
Brady, Joanne E.;
Li, Guohua;
Sonty, Nomita;
Saroyan, John M.

Publication type:

Article

Left Ventricular Noncompaction Cardiomyopathy in Barth Syndrome: An Example of an Undulating Cardiac Phenotype Necessitating Mechanical Circulatory Support as a Bridge to Transplantation.

Published in:

2012

By:

Hanke, Samuel;
Gardner, Aimee;
Lombardi, John;
Manning, Peter;
Nelson, David;
Towbin, Jeffrey;
Jefferies, John;
Lorts, Angela

Publication type:

Report

Proteolytic regulation of mitochondrial magnesium channel by m-AAA protease and prohibitin complex.

Published in:

Genetics, 2025, v. 229, n. 2, p. 1, doi. 10.1093/genetics/iyae203

By:

Joshi, Alaumy;
Stanfield, Rachel A;
Spletter, Andrew T;
Gohil, Vishal M

Publication type:

Article

A case undergoing cocktail therapy for cardiac involvement in Barth syndrome.

Published in:

2020

By:

Abe, Jiro;
Yamaguchi, Takeshi;
Matsuzawa, Maki;
Kobayashi, Ichiro;
Takeda, Atsuhito

Publication type:

Case Study

Barth syndrome associated with triple mutation.

Published in:

2018

By:

Tsujii, Nobuyuki;
Hayashi, Takeharu;
Hayashi, Tamaki;
Kimura, Akinori;
Nishikubo, Toshiya

Publication type:

Case Study

Mitochondrial dysfunctions in barth syndrome.

Published in:

IUBMB Life, 2019, v. 71, n. 7, p. 791, doi. 10.1002/iub.2018

By:

Ghosh, Sagnika;
Iadarola, Donna M.;
Ball, Writoban Basu;
Gohil, Vishal M.

Publication type:

Article

CASE REPORT. Bart's Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia.

Published in:

2014

By:

SAEED, Muhammad;
QADIR, Khaqan;
HAQ, Anwar ul

Publication type:

Case Study

Assessing olfactory functions in patients with Barth syndrome.

Published in:

PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0187619

By:

Dibattista, Michele;
Lobasso, Simona;
Stramaglia, Sebastiano;
Corcelli, Angela

Publication type:

Article

The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome.

Published in:

2017

By:

Yan Huang;
Powers, Corey;
Moore, Victoria;
Schafer, Caitlin;
Ren, Mindong;
Phoon, Colin K. L.;
James, Jeanne F.;
Glukhov, Alexander V.;
Javadovv, Sabzali;
Vaz, Frédéric M.;
Jefferies, John L.;
Strauss, Arnold W.;
Khuchua, Zaza;
Huang, Yan;
Javadov, Sabzali

Publication type:

journal article

Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.

Published in:

2017

By:

Jian Wang;
Ying Guo;
Meirong Huang;
Zhen Zhang;
Junxue Zhu;
Tingliang Liu;
Lin Shi;
Fen Li;
Huimin Huang;
Lijun Fu;
Wang, Jian;
Guo, Ying;
Huang, Meirong;
Zhang, Zhen;
Zhu, Junxue;
Liu, Tingliang;
Shi, Lin;
Li, Fen;
Huang, Huimin;
Fu, Lijun

Publication type:

journal article

Natural history of Barth syndrome: a national cohort study of 22 patients.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-70

By:

Rigaud, Charlotte;
Lebre, Anne-Sophie;
Touraine, Renaud;
Beaupain, Blandine;
Ottolenghi, Chris;
Chabli, Allel;
Ansquer, Helene;
Ozsahin, Hulya;
Di Filippo, Sylvie;
De Lonlay, Pascale;
Borm, Betina;
Rivier, Francois;
Vaillant, Marie-Catherine;
Mathieu-Dramard, Michèle;
Goldenberg, Alice;
Viot, Géraldine;
Charron, Philippe;
Rio, Marlene;
Bonnet, Damien;
Donadieu, Jean

Publication type:

Article

New clinical and molecular insights on Barth syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-27

By:

Ferri, Lorenzo;
Donati, Maria Alice;
Funghini, Silvia;
Malvagia, Sabrina;
Catarzi, Serena;
Lugli, Licia;
Ragni, Luca;
Bertini, Enrico;
Vaz, Frédéric M.;
Cooper, David N.;
Guerrini, Renzo;
Morrone, Amelia

Publication type:

Article

Barth syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-23

By:

Clarke, Sarah L. N.;
Bowron, Ann;
Gonzalez, Iris L.;
Groves, Sarah J.;
Newbury-Ecob, Ruth;
Clayton, Nicol;
Martin, Robin P.;
Tsai-Goodman, Beverly;
Garratt, Vanessa;
Ashworth, Michael;
Bowen, Valerie M.;
McCurdy, Katherine R.;
Damin, Michaela K.;
Spencer, Carolyn T.;
Toth, Matthew J.;
Kelley, Richard I.;
Steward, Colin G.

Publication type:

Article

Correction.

Published in:: 2016
Publication type:: journal article

Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.

Published in:

2016

By:

Brión, María;
de Castro López, María José;
Santori, Montserrat;
Muñuzuri, Alejandro Pérez;
Abel, Bernardo López;
Baña Souto, Ana María;
Martínez Soto, María Isabel;
Couce, María Luz;
Pérez Muñuzuri, Alejandro;
López Abel, Bernardo

Publication type:

journal article

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1708, doi. 10.1038/ejhg.2015.50

By:

Ferri, Lorenzo;
Donati, Maria A;
Funghini, Silvia;
Cavicchi, Catia;
Pensato, Viviana;
Gellera, Cinzia;
Natacci, Federica;
Spaccini, Luigina;
Gasperini, Serena;
Vaz, Frédéric M;
Cooper, David N;
Guerrini, Renzo;
Morrone, Amelia

Publication type:

Article

Fungiform Papilla Number and Olfactory Threshold Assessment in Males With and Without Barth Syndrome.

Published in:

Chemosensory Perception, 2017, v. 10, n. 3, p. 60, doi. 10.1007/s12078-017-9228-4

By:

Reynolds, Stacey;
Burgess, M.;
Hymowitz, Nava;
Snyder, Derek;
Lane, Shelly

Publication type:

Article

Rare health conditions 35: acoustic neuroma, rhabdomyolysis, Barth syndrome.

Published in:

British Journal of Healthcare Assistants, 2020, v. 14, n. 5, p. 220, doi. 10.12968/bjha.2020.14.5.220

By:

Barber, Chris

Publication type:

Article

Analysis of Surgical Mortality for Congenital Heart Defects Using RACHS-1 Risk Score in a Brazilian Single Center.

Published in:

Brazilian Journal of Cardiovascular Surgery, 2016, v. 31, n. 3, p. 219, doi. 10.5935/1678-9741.20160022

By:

de Melo Bezerra Cavalcante, Candice Torres;
Gomes de Souza, Nayana Maria;
Pinto Júnior, Valdester Cavalcante;
Castello Branco, Klébia Magalhães Pereira;
Pompeu, Ronald Guedes;
de Oliveira Teles, Andreia Consuelo;
Cavalcante, Rodrigo Cardoso;
de Andrade, Giselle Viana

Publication type:

Article

Prenatal Detection of Critical Congenital Heart Disease.

Published in:

Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2016, v. 10, n. 2, p. 131, doi. 10.5005/jp-journals-10009-1455

By:

Irshaid, Lina W.;
Elfky, Najwa;
Ahmed, Badreldeen

Publication type:

Article

Advances in the understanding of Barth syndrome.

Published in:

British Journal of Haematology, 2013, v. 161, n. 3, p. 330, doi. 10.1111/bjh.12271

By:

Aprikyan, Andranik A.;
Khuchua, Zaza

Publication type:

Article

Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice.

Published in:

Frontiers in Physiology, 2013, v. 4, p. 1, doi. 10.3389/fphys.2013.00074

By:

Powers, Corey;
Yan Huang;
Strauss, Arnold;
Zaza Khuchua

Publication type:

Article

Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice.

Published in:

Frontiers in Physiology, 2013, p. 1, doi. 10.3389/fphys.2013.00074

By:

Powers, Corey;
Yan Huang;
Strauss, Arnold;
Khuchua, Zaza

Publication type:

Article

Barthov syndróm - kazuistika.

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2018, v. 73, n. 6, p. 384

By:

Tárnoková, S.;
Šebová, C.;
Brennerová, K.;
Perečková, J.;
Kunovský, P.;
Riedel, R.;
Ďuranová, M.;
Bzdúch, V.

Publication type:

Article