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Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

Annals of neurology, 2014-08, Vol.76 (2), p.206-212

2014

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TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

American journal of human genetics, 2010-09, Vol.87 (3), p.365-370

2010

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Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy

Human mutation, 2013-06, Vol.34 (6), p.869-872

2013

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Do regulatory regions matter in FOXG1 duplications?

European journal of human genetics : EJHG, 2013-04, Vol.21 (4), p.365-366

2013

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A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

Epilepsia (Copenhagen), 2013-07, Vol.54 (7), p.1298-1306

2013

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Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis

Epileptic disorders, 2016-09, Vol.18 (s2), p.S120-S127

2016

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A novel pedigree with familial cortical myoclonic tremor and epilepsy ( FCMTE ): Clinical characterization, refinement of the FCMTE 2 locus, and confirmation of a founder haplotype

Epilepsia (Copenhagen), 2013-07, Vol.54 (7), p.1298-1306

2013

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Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy

Human mutation, 2013-06, Vol.34 (6), p.869-872

2013

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TBC1 D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

American journal of human genetics, 2010, Vol.87 (3), p.365-370

2010

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Gut Microbiota and Metabolome Alterations Associated with Parkinson’s Disease

mSystems, 2020-10, Vol.5 (5)

2020

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Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum

eLife, 2018-03, Vol.7

2018

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Endothelial dysfunction and cardiovascular risk profile in nonalcoholic fatty liver disease

Hepatology (Baltimore, Md.), 2005-08, Vol.42 (2), p.473-480

2005

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A randomized controlled trial of metformin versus vitamin E or prescriptive diet in nonalcoholic fatty liver disease

The American journal of gastroenterology, 2005-05, Vol.100 (5), p.1082-1090

2005

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Systemic Inflammation Rapidly Induces Reversible Atrial Electrical Remodeling: The Role of Interleukin-6-Mediated Changes in Connexin Expression

Journal of the American Heart Association, 2019-08, Vol.8 (16), p.e011006-e011006

2019

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Computed Tomography Highlights Increased Visceral Adiposity Associated With Critical Illness in COVID-19

Diabetes care, 2020-10, Vol.43 (10), p.e129-e130

2020

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RGS9‐2 rescues dopamine D2 receptor levels and signaling in DYT1 dystonia mouse models

EMBO molecular medicine, 2019-01, Vol.11 (1), p.n/a

2019

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WSES consensus guidelines on sigmoid volvulus management

World journal of emergency surgery, 2023-05, Vol.18 (1), p.34-34, Article 34

2023

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Vertebral fractures and mortality risk in hospitalised patients during the COVID-19 pandemic emergency

Endocrine, 2021-12, Vol.74 (3), p.461-469

2021

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Iterative Surgical Treatment for Repeated Recurrences After Complete Resection of Thymic Tumors

The Annals of thoracic surgery, 2017-02, Vol.103 (2), p.422-431

2017

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Theoretical Basis and Experimental Validation of the Breakdown Induced by Rupture of Dielectric Layer Model

IEEE transactions on plasma science, 2019-05, Vol.47 (5), p.2759-2764

2019

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Relative contribution of iron burden, HFE mutations, and insulin resistance to fibrosis in nonalcoholic fatty liver

Hepatology (Baltimore, Md.), 2004-01, Vol.39 (1), p.179-187

2004

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WSES-AAST guidelines: management of inflammatory bowel disease in the emergency setting

World journal of emergency surgery, 2021-05, Vol.16 (1), p.23-27, Article 23

2021

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Expanding the natural history of nonalcoholic steatohepatitis: From cryptogenic cirrhosis to hepatocellular carcinoma

Gastroenterology (New York, N.Y. 1943), 2002-07, Vol.123 (1), p.134-140

2002

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Traumatic brain injury: integrated approaches to improve prevention, clinical care, and research

Lancet neurology, 2017-12, Vol.16 (12), p.987-1048

2017

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Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy

Do regulatory regions matter in FOXG1 duplications?

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis

A novel pedigree with familial cortical myoclonic tremor and epilepsy ( FCMTE ): Clinical characterization, refinement of the FCMTE 2 locus, and confirmation of a founder haplotype

Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy

TBC1 D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Gut Microbiota and Metabolome Alterations Associated with Parkinson’s Disease

Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum

Endothelial dysfunction and cardiovascular risk profile in nonalcoholic fatty liver disease

A randomized controlled trial of metformin versus vitamin E or prescriptive diet in nonalcoholic fatty liver disease

Systemic Inflammation Rapidly Induces Reversible Atrial Electrical Remodeling: The Role of Interleukin-6-Mediated Changes in Connexin Expression

Computed Tomography Highlights Increased Visceral Adiposity Associated With Critical Illness in COVID-19

RGS9‐2 rescues dopamine D2 receptor levels and signaling in DYT1 dystonia mouse models

WSES consensus guidelines on sigmoid volvulus management

Vertebral fractures and mortality risk in hospitalised patients during the COVID-19 pandemic emergency

Iterative Surgical Treatment for Repeated Recurrences After Complete Resection of Thymic Tumors

Theoretical Basis and Experimental Validation of the Breakdown Induced by Rupture of Dielectric Layer Model

Relative contribution of iron burden, HFE mutations, and insulin resistance to fibrosis in nonalcoholic fatty liver

WSES-AAST guidelines: management of inflammatory bowel disease in the emergency setting

Expanding the natural history of nonalcoholic steatohepatitis: From cryptogenic cirrhosis to hepatocellular carcinoma

Traumatic brain injury: integrated approaches to improve prevention, clinical care, and research

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