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European journal of neurology·2013

Utility of cystatin C for renal function in amyotrophic lateral sclerosis.

Acta neurologica Scandinavica·2013

Sleep architecture and the apnoea-hypopnoea index in children with obstructive-sleep apnoea syndrome.

Journal of oral rehabilitation·2007

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Journal of oral rehabilitation·2004

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Journal of oral rehabilitation·2003

A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity.

Acta neurologica Scandinavica·2002

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Human mutation·2026

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Human mutation·2026

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Human mutation·2026

Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.

Human mutation·2026

Expanding the Molecular Data of DICER1-Related Tumor Predisposition: Novel Germline Variants in an Argentine Pediatric Cohort.

Human mutation·2026

Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.

Human mutation·2026

Are we missing obsessive-compulsive disorder in children with severe intellectual disability?

BJPsych bulletin·2026

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Psychological assessment·2026

Detection of Low Levels of DNAJB1::PRKACA Fusion KinaseRequires the Utilization of Sensitive Assays and CarefulMethodological Planning. Reply to Palaz et al. Independent Multi-Cohort RNA-Seq Analysis Does Not Support Recurrent DNAJB1::PRKACA Fusion in Hepatoblastoma or Biliary Atresia. Comment on "Fleifil et al. DNAJB1-PKAc Kinase Is Expressed in Young Patients with Pediatric Liver Cancers and Enhances Carcinogenic Pathways. Cancers 2025, 17, 83".

Cancers·2026

Donanemab for early symptomatic AD in the UK-indicated population: safety and efficacy in those who are non-carriers or heterozygous for APOE ε4.

Neurodegenerative disease management·2026

Giant left main coronary artery aneurysm in a young adult female with suspected incomplete Kawasaki disease: a case report.

Frontiers in medicine·2026

Contiguity and the Genesis of Autistic Experience: What Psychoanalysis Contributes to Phenomenology.

Psychopathology·2026

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Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients

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Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients

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