Congenital muscular dystrophy of a non-Fukuyama type

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Molecular psychiatry·2015

Partial acute transverse myelitis is a predictor of multiple sclerosis in children.

Multiple sclerosis (Houndmills, Basingstoke, England)·2014

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Journal of inherited metabolic disease·2013

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].

Revue neurologique·2013

[Genetic syndromes that mimic congenital infections: report of 2 cases].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2011

[Treatment of childhood dystonia].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2010

Key revisions in the 2023 guidelines for the diagnosis and treatment of acute encephalopathy in childhood.

Brain & development·2026

Third-line tocilizumab for refractory pediatric anti-NMDA receptor encephalitis: a single-center case series.

Brain & development·2026

Effect of Doctor Car dispatch on neurological outcomes in children with status epilepticus: A single-Center retrospective cohort study.

Brain & development·2026

Prescribing patterns of migraine pharmacotherapy in children and adolescents: descriptive study using a large-scale claims database.

Brain & development·2026

Twelve Japanese patients with POLG-related disorders: Population-specific genetic differences of POLG variants in Japan and Europe.

Brain & development·2026

Electroclinical and neuroradiological evolution in pediatric and adult patients with Rasmussen encephalitis.

Brain & development·2026

Vertebral Artery Dissection and PICA-Territory Stroke Associated with Chronic Atlantoaxial Structural Abnormality: A Case Report.

Neurology international·2026

Limited Added Effect of Proline-Rich P6 Peptide to Cross-Linked Hyaluronic Acid After Partial Lateral Meniscectomy in Sheep.

Smart medicine·2026

Silent thrombosis of a mechanical tricuspid valve prosthesis in a patient with Ebstein's anomaly.

Kardiologia polska·2026

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

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Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].

[Genetic syndromes that mimic congenital infections: report of 2 cases].

[Treatment of childhood dystonia].

Key revisions in the 2023 guidelines for the diagnosis and treatment of acute encephalopathy in childhood.

Third-line tocilizumab for refractory pediatric anti-NMDA receptor encephalitis: a single-center case series.

Effect of Doctor Car dispatch on neurological outcomes in children with status epilepticus: A single-Center retrospective cohort study.

Prescribing patterns of migraine pharmacotherapy in children and adolescents: descriptive study using a large-scale claims database.

Twelve Japanese patients with POLG-related disorders: Population-specific genetic differences of POLG variants in Japan and Europe.

Electroclinical and neuroradiological evolution in pediatric and adult patients with Rasmussen encephalitis.

Vertebral Artery Dissection and PICA-Territory Stroke Associated with Chronic Atlantoaxial Structural Abnormality: A Case Report.

Limited Added Effect of Proline-Rich P6 Peptide to Cross-Linked Hyaluronic Acid After Partial Lateral Meniscectomy in Sheep.

Silent thrombosis of a mechanical tricuspid valve prosthesis in a patient with Ebstein's anomaly.

Mg-MOF-74@MnO2 koosh ball-like nanoparticles modified PLLA bone scaffold achieving mild-temperature photothermal antibacterial function.

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Congenital muscular dystrophy of a non-Fukuyama type

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