Results 201 to 210 of about 127,568 (322)

T1 mapping using a saturation recovery single-shot acquisition at 3 Tesla MRI in differentiation of normal myocardium from hypertrophic cardiomyopathy [PDF]

, 2016
Ryo Ogawa, Tomoyuki Kido, Masashi Nakamura, Teruhito Kido, Akiyoshi Ogimoto, Masao Miyagawa, Teruhito Mochizuki   +6 more
openalex   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 287-294, February 2026.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Author Correction: Individualized interactomes for network-based precision medicine in hypertrophic cardiomyopathy with implications for other clinical pathophenotypes

Nature Communications, 2022
Bradley A. Maron, Rui-Sheng Wang, Sergei Shevtsov, Stavros G. Drakos, Elena Arons, Omar Wever-Pinzon, Gordon S. Huggins, Andriy O. Samokhin, William M. Oldham, Yasmine Aguib, Magdi H. Yacoub, Ethan J. Rowin, Barry J. Maron, Martin S. Maron, Joseph Loscalzo   +14 more
doaj   +1 more source

Evaluation of sudden cardiac death in hypertrophic cardiomyopathy. [PDF]

J Cardiovasc Imaging
Yoon SG, Hong GR.
europepmc   +1 more source

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, Volume 16, Issue 1, Page 178-198, January 2026.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

A case of hypertrophic cardiomyopathy presenting with high-degree atrioventricular block. [PDF]

Medicine (Baltimore)
Gu Y, Chen F, Zhang C.
europepmc   +1 more source

Is It Possible to Predict the Onset of “Heart Failure” in Hypertrophic Cardiomyopathy?

, 2015
Keiko Yamauchi‐Takihara
openalex   +2 more sources

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation [PDF]

, 2015
Ronen Spiegel, Ann Saada, Padraig J. Flannery, Florence Burté, Devorah Soiferman, Morad Khayat, Verónica Eisner, Eugene Vladovski, Robert W. Taylor, Laurence A. Bindoff, Avraham Shaag, Hanna Mandel, Ora Schuler-Furman, Stavit A. Shalev, Orly Elpeleg, Patrick Yu‐Wai‐Man   +15 more
openalex   +1 more source

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 200-203, January 2026.
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, on behalf of the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
wiley   +1 more source

Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis. [PDF]

Biomedicines
Teresi L, Trimarchi G, Licordari R, Restelli D, Taverna G, Liotta P, Micari A, Smecca I, Dendramis G, Turturiello D, Latini AC, Falasconi G, de Gregorio C, Crea P, Dattilo G, Berruezo A, Micari A, Di Bella G.   +17 more
europepmc   +1 more source