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Journal of Human Genetics, ISSN 1434-5161, 2019, Volume 64, Issue 5, pp. 359 - 368
We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic variants. Similar clinical courses... 
MUTATIONS | VARIANT | GENETICS & HEREDITY | NEURONAL CEROID-LIPOFUSCINOSIS | Index Medicus
Journal Article
Journal of Hepato‐Biliary‐Pancreatic Sciences, ISSN 1868-6974, 10/2015, Volume 22, Issue 10, pp. 721 - 727
Journal Article
Molecular Simulation, ISSN 0892-7022, 11/2019, Volume 45, Issue 17, pp. 1437 - 1446
The structural and dynamical properties of water confined in nanoporous silica with a pore diameter of 2.7 nm were investigated by performing large-scale... 
ReaxFF | mesoporous silica | confined water | hydrogen bond dynamics | molecular dynamics simulation | Thin films | Stress concentration | Radial distribution | Hydrogen bonds | Mathematical analysis | Bond strength | Molecular dynamics | Bonding strength | Diffusion coefficient | Silicon dioxide | Distribution functions
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2017, Volume 92, Issue 2, pp. 180 - 187
Journal Article
Journal of Medicinal Chemistry, ISSN 0022-2623, 02/2019, Volume 62, Issue 4, pp. 2076 - 2082
Transthyretin (TTR) is a tetrameric protein found in human serum and associated with amyloid diseases. Because the tetramer dissociation and misfolding of the... 
POTENT | CHEMISTRY, MEDICINAL | PROTEIN | AMYLOIDOSIS | VARIANTS | CRYSTAL-STRUCTURE | MOLECULAR TWEEZERS | THYROXINE-BINDING
Journal Article
Journal of Hepato‐Biliary‐Pancreatic Sciences, ISSN 1868-6974, 10/2015, Volume 22, Issue 10, pp. 711 - 720
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 10/2018, Volume 63, Issue 10, pp. 1049 - 1054
The mammalian Na+/H+ exchanger isoform one (NHE1), encoded by Solute Carrier Family 9, member 1 (SLC9A1), consists of 12 membrane domains and a cytosolic... 
NA+/H+ EXCHANGER NHE1 | DISEASES | GENETICS & HEREDITY | SLC9A1 | Humans | Child, Preschool | Sodium-Hydrogen Exchanger 1 - genetics | Male | Whole Exome Sequencing | Cerebellar Ataxia - physiopathology | Cerebellar Ataxia - genetics | Adolescent | Cerebellar Ataxia - diagnostic imaging | Adult | Female | Mutation | Child
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 09/2018, Volume 72, Issue 13, pp. B153 - B154
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 09/2018, Volume 72, Issue 13, pp. B338 - B338
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 376 - 378
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2008, Volume 40, Issue 6, pp. 782 - 788
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2015, Volume 65, Issue 17, pp. S299 - S300
  Relevant test results prior to catheterization His electrocardiogram showed abnormal Q-wave in inferior leads, and his echocardiography revealed reduced... 
Cardiovascular | Internal Medicine | Transluminal angioplasty | Aneurysms | Unstable angina | Cardiac patients | Heart attacks | Cardiology | Medical treatment | Coronary vessels
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 02/2018, Volume 63, Issue 2, pp. 207 - 211
Episodic ataxias (EAs) are rare channelopathies characterized by recurrent ataxia and vertigo, having eight subtypes. Mutated genes were found in four of these... 
VARIANTS | TRANSPORTER | GENETICS & HEREDITY | Excitatory Amino Acid Transporter 1 - chemistry | Humans | Models, Molecular | Male | Mutation, Missense | Ataxia - genetics | Excitatory Amino Acid Transporter 1 - genetics | Child | Amino Acid Substitution
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 487 - 491
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short... 
GENE | OVCA1 | GENETICS & HEREDITY
Journal Article