Bilateral porencephalic defect and bilateral perisylvian polymicrogyria

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Neurologia·2024

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.

Clinical genetics·2013

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Clinical genetics·2012

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

Annals of neurology·2009

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Neurology·2009

Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures.

Neurology·2008

Associations of muscle thickness and echo intensity with pneumonia onset in patients with severe cerebral palsy: a longitudinal study.

Brain & development·2026

Associations between patterns of diffusion-weighted magnetic resonance imaging and long-term outcomes in acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain & development·2026

Clinical practices in prehospital rescue medication use for pediatric status epilepticus in Japan: a nationwide questionnaire survey.

Brain & development·2026

Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.

Brain & development·2026

Association of relative age with medical consultations for developmental concerns: A nationwide birth cohort study in Japan.

Brain & development·2026

Pediatric GBS-myelitis overlap syndrome: Severe phenotype, treatment response, and neurological outcomes.

Brain & development·2026

Reliability and validity study of the Obsessive-Compulsive Inventory-Child Version (OCI-CV).

Dusunen adam : Bakirkoy Ruh ve Sinir Hastaliklari Hastanesi yayin organi·2026

Ophthalmological injuries in isolated orbital fractures: which patients need evaluation?

The British journal of oral & maxillofacial surgery·2026

Defining genetic and physiopathological bases of orbital hypertelorism: about a systematic literature review.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery·2026

Opioid Use Disorder and Treatment Uptake among Patients with Rheumatic Conditions in the All of Us Research Program: A Descriptive Analysis.

Arthritis care & research·2026

Muscle Strength, Balance, and Indoor Mobility in Oculopharyngeal Muscular Dystrophy: An Exploratory Canadian Multicenter Study.

Muscle & nerve·2026

Comparison of arthroscopic microfracture efficacy in osteochondral lesions of the talus with and without urate deposition.

Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons·2026

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Bilateral porencephalic defect and bilateral perisylvian polymicrogyria

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Memory changes in patients with hippocampal sclerosis submitted to surgery to treat mesial temporal lobe epilepsy.

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

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