Myopathy in a patient with chromosome 22q11 deletion

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

European journal of neurology·2018

Aerobic exercise upregulates the BDNF-Serotonin systems and improves the cognitive function in rats.

Neurobiology of learning and memory·2018

Lifelong Aerobic Exercise Reduces the Stress Response in Rats.

Neuroscience·2018

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Clinical genetics·2017

Direct effects of ethanol on neuronal differentiation: An in vitro analysis of viability and morphology.

Brain research bulletin·2016

Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: a case report.

Minerva pediatrica·2013

Assessment of Cerebral Microvascular Development in Preterm Neonates Using Ultrafast Power Doppler Imaging.

Neuropediatrics·2026

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Neuropediatrics·2026

Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource Country.

Neuropediatrics·2026

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Neuropediatrics·2026

Characteristics and Outcomes of Guillain-Barré Syndrome in Children.

Neuropediatrics·2026

Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study.

Neuropediatrics·2026

A protocol for validation of novel artificial intelligence-based framework for dyspnoea investigation with cardiopulmonary exercise testing.

ERJ open research·2026

Extracellular Matrix Alterations and the Antifibrotic Role of Mycophenolate Mofetil in a Model of Peyronie's Disease.

The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society·2026

A programmable multi-stable tensegrity metamaterial with enhanced energy absorption for fall-injury mitigation.

Materials horizons·2026

[Estradiol-ERβ signaling axis promotes myofiber repair in female mice with acute skeletal muscle inflammation by regulating IGF-1 expression from M2 macrophages].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences·2026

Electromechanical coupling in fascia and its link to collagen morphology.

Journal of the mechanical behavior of biomedical materials·2026

Reengineering 3D cellular-scale stiffness gradient at the enthesis with biomimetic hydrogels to promote in situ chondrogenesis.

Biomaterials·2026

Related Experiment Videos

Myopathy in a patient with chromosome 22q11 deletion

Related Concept Videos

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Aerobic exercise upregulates the BDNF-Serotonin systems and improves the cognitive function in rats.

Lifelong Aerobic Exercise Reduces the Stress Response in Rats.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Direct effects of ethanol on neuronal differentiation: An in vitro analysis of viability and morphology.

Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: a case report.

Assessment of Cerebral Microvascular Development in Preterm Neonates Using Ultrafast Power Doppler Imaging.

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource Country.

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Characteristics and Outcomes of Guillain-Barré Syndrome in Children.

Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study.

A protocol for validation of novel artificial intelligence-based framework for dyspnoea investigation with cardiopulmonary exercise testing.

Extracellular Matrix Alterations and the Antifibrotic Role of Mycophenolate Mofetil in a Model of Peyronie's Disease.

A programmable multi-stable tensegrity metamaterial with enhanced energy absorption for fall-injury mitigation.

[Estradiol-ERβ signaling axis promotes myofiber repair in female mice with acute skeletal muscle inflammation by regulating IGF-1 expression from M2 macrophages].

Electromechanical coupling in fascia and its link to collagen morphology.

Reengineering 3D cellular-scale stiffness gradient at the enthesis with biomimetic hydrogels to promote in situ chondrogenesis.

Related Experiment Videos

Myopathy in a patient with chromosome 22q11 deletion

Related Concept Videos

Related Articles