Results 251 to 260 of about 31,520 (324)

A GNAI1 Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of GNAI1-Associated Neurodevelopmental Disorder. [PDF]

Clin Case Rep
de Albuquerque MAV, Kok F.
europepmc   +1 more source

Early sensorimotor restriction in rats induces age‐dependent mitochondrial alterations in skeletal muscles and brain structures

The Journal of Physiology, Volume 604, Issue 6, Page 2512-2524, 15 March 2026.
Abstract figure legend This study aimed to determine whether early sensorimotor restriction (SMR) alters mitochondrial enzyme activities in rat muscles and brain structures. SMR was induced via immobilizing the hind limbs of pups for 16 h per day during the dark phase from birth to postnatal day (PND) 28.
Mélanie Van Gaever, Olivier Dupuy, Erwan Dupont, Marie‐Hélène Canu, Frederic Daussin   +4 more
wiley   +1 more source

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years. [PDF]

Front Endocrinol (Lausanne)
Olaya M, Samango-Sprouse C, Counts D, Kline AD, Mitchell F, Buscema E, Tipton E, Sadeghin T, Gropman AL.   +8 more
europepmc   +1 more source

Severe upper airway dysfunction in GNAO1-related disorders. [PDF]

Ital J Pediatr
Bernardi K, Ortigoza-Escobar JD, Dominguez-Carral J, Espinoza-Quinteros I, Mendo LD, Koy A, Thiel M.   +6 more
europepmc   +1 more source

Reply: “Leigh Syndrome Due to the Variant c.1019T>C in COX15”

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 847-848, March 2026.
Haya S. AlFaris, Sangeetha Yoganathan, Marcus N. Callister, Liali Aljouda, Vivek Pai, Pradeep Krishnan, Andrea LeBlanc Miller, Christos Ganos, Carolina Gorodetsky   +8 more
wiley   +1 more source

One novel <i>HSD17B4</i> mutation in association with D-bifunctional protein deficiency: a case report and literature review. [PDF]

Front Pediatr
Xiong L, Wang S, Sun H, Zhong T, Li L, Zeng H, Huang Y.   +6 more
europepmc   +1 more source

Vomiting, hypotonia and failure to thrive in a 12-month-old female. [PDF]

Paediatr Child Health
MacDonald BE, Acott PD, Burns E.
europepmc   +1 more source

Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report. [PDF]

Mol Genet Metab Rep
Sharma A, Vashist M, Kaushik R, Rohilla G, Narwal S.   +4 more
europepmc   +1 more source

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax. [PDF]

Genes (Basel)
Wang H.
europepmc   +1 more source

Respiratory Failure Associated With Mutations in the RYR1 Gene: A Case Report. [PDF]

Clin Case Rep
Zhao C, Li Y, Li J, Xiong J.
europepmc   +1 more source