Hypotonia Latest Advances

Find the Latest Research About Hypotonia

Last Updated: 04/28/2026

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Found 6131 publications

Transforming the natural course of infantile onset thymidine kinase 2 deficiency through early nucleoside replacement therapy.

Transforming the natural course of infantile onset thymidine kinase 2 deficiency through early nucleoside replacement therapy.

Journal: Journal of neuromuscular diseases
Published: April 07, 2026

A Revealing Case of SHQ1-Related Neurodevelopmental Disorder: Expanding the Genotypic and Phenotypic Frontier.

A Revealing Case of SHQ1-Related Neurodevelopmental Disorder: Expanding the Genotypic and Phenotypic Frontier.

Journal: Journal of child neurology
Published: March 26, 2026

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years.

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years.

Journal: medRxiv : the preprint server for health sciences
Published: March 23, 2026

Acute Reversible Convergent Strabismus Following Accidental Lorazepam Ingestion in a Child: A Rare Ocular Manifestation of Benzodiazepine Toxicity.

Acute Reversible Convergent Strabismus Following Accidental Lorazepam Ingestion in a Child: A Rare Ocular Manifestation of Benzodiazepine Toxicity.

Journal: Cureus
Published: March 17, 2026

PURA-Related Neurodevelopmental Disorder: A Comprehensive Clinical Review of Genetics, Phenotype, and Emerging Therapeutic Strategies.

PURA-Related Neurodevelopmental Disorder: A Comprehensive Clinical Review of Genetics, Phenotype, and Emerging Therapeutic Strategies.

Journal: Cureus
Published: March 13, 2026

Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene

Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 11, 2026

Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.

Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.

Journal: Journal of child neurology
Published: March 10, 2026

The TBCK-PPP1R21-FERRY3/C12orf4 complex: a RAB5-GAP brake essential for endo-lysosomal homeostasis.

The TBCK-PPP1R21-FERRY3/C12orf4 complex: a RAB5-GAP brake essential for endo-lysosomal homeostasis.

Journal: Autophagy
Published: March 06, 2026

Features of premorbid status in patients with Rett syndrome

Features of premorbid status in patients with Rett syndrome

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Published: March 05, 2026

A case report by scientist parents of a paediatric patient diagnosed with Marfan syndrome at 24 weeks of pregnancy.

A case report by scientist parents of a paediatric patient diagnosed with Marfan syndrome at 24 weeks of pregnancy.

Journal: Cardiology in the young
Published: March 05, 2026

A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

Journal: Ophthalmic genetics
Published: March 05, 2026

Time is brain: Impact of early intervention on neurodevelopment after Fetomaternal hemorrhage.

Time is brain: Impact of early intervention on neurodevelopment after Fetomaternal hemorrhage.

Journal: Journal of neonatal-perinatal medicine
Published: March 02, 2026
Showing 1-12 of 6,131

Last Updated: 04/28/2026