Hypotonia Latest Advances

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Last Updated: 09/19/2026

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Found 6275 publications

MICOS13-Related Combined Oxidative Phosphorylation Deficiency 37: A Case Report and Systematic Review of the Literature.

MICOS13-Related Combined Oxidative Phosphorylation Deficiency 37: A Case Report and Systematic Review of the Literature.

Journal: Fetal and pediatric pathology

Published: September 02, 2026

Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

Journal: Journal of neuromuscular diseases

Published: August 29, 2026

Polyamine Metabolism in Brain Health and Disease.

Polyamine Metabolism in Brain Health and Disease.

Journal: Neuropharmacology and therapy

Published: August 22, 2026

Intrafamilial Variability in 2 Siblings With TANGO2-Related Disorder.

Intrafamilial Variability in 2 Siblings With TANGO2-Related Disorder.

Journal: Journal of child neurology

Published: August 10, 2026

Ketogenic diet reintroduction in an adult patient with glucose transporter type 1 deficiency syndrome

Ketogenic diet reintroduction in an adult patient with glucose transporter type 1 deficiency syndrome

Journal: Rinsho shinkeigaku = Clinical neurology

Published: August 10, 2026

Central Thyroid Hormone Deprivation Disrupts Cortical Cilia and Oligodendrocyte Lineage in an Allan-Herndon-Dudley Syndrome Mouse Model.

Central Thyroid Hormone Deprivation Disrupts Cortical Cilia and Oligodendrocyte Lineage in an Allan-Herndon-Dudley Syndrome Mouse Model.

Journal: Thyroid : official journal of the American Thyroid Association

Published: August 04, 2026

Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases.

Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases.

Journal: Journal of neuromuscular diseases

Published: July 23, 2026

Healthcare and Psychosocial Needs in Achondroplasia Across the Lifespan: Developmental Functioning, Multidisciplinary Care, and Family-Centered Outcomes.

Healthcare and Psychosocial Needs in Achondroplasia Across the Lifespan: Developmental Functioning, Multidisciplinary Care, and Family-Centered Outcomes.

Journal: Healthcare (Basel, Switzerland)

Published: July 22, 2026

A Survey on the Current Status of Joubert Syndrome and Related Disorders Conducted Through a Patient and Family Group in Japan.

A Survey on the Current Status of Joubert Syndrome and Related Disorders Conducted Through a Patient and Family Group in Japan.

Journal: Cureus

Published: July 19, 2026

Bilateral Corneal Dystrophy Revealing Mucolipidosis Type IV: A Case Report.

Bilateral Corneal Dystrophy Revealing Mucolipidosis Type IV: A Case Report.

Journal: Cureus

Published: July 17, 2026

A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir.

A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir.

Journal: Genetic testing and molecular biomarkers

Published: July 17, 2026

Velopharyngeal Insufficiency Secondary to Endoscopic Endonasal Odontoidectomy and Craniocervical Fusion in a Pediatric Patient With Down Syndrome: A Case Report.

Velopharyngeal Insufficiency Secondary to Endoscopic Endonasal Odontoidectomy and Craniocervical Fusion in a Pediatric Patient With Down Syndrome: A Case Report.

Journal: Ear, nose, & throat journal

Published: July 17, 2026

Showing 1-12 of 6,275

Last Updated: 09/19/2026