Inherited lipid storage diseases of the central nervous system

Microbial community changes in a female rat model of Rett syndrome.

Progress in neuro-psychopharmacology & biological psychiatry·2021

Clinical severity and quality of life in children and adolescents with Rett syndrome.

Neurology·2011

Epilepsy and the natural history of Rett syndrome.

Neurology·2010

FXYD1, a modulator of Na,K-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitability.

Journal of neuroendocrinology·2009

New discoveries of skeletal elements of Hadropithecus stenognathus from Andrahomana Cave, southeastern Madagascar.

Journal of human evolution·2006

Early progressive encephalopathy in boys and MECP2 mutations.

Neurology·2006

Diagnosis and management of childhood food allergy.

Current problems in pediatrics·2001

Spina bifida and other neural tube defects.

Current problems in pediatrics·2001

Lead poisoning: a disease for the next millennium.

Current problems in pediatrics·2000

Attention deficit-hyperactivity disorder and its deceivers.

Current problems in pediatrics·2000

Emergency medical services for children: a general pediatrician's perspective.

Current problems in pediatrics·1999

Diarrheogenic Escherichia coli.

Current problems in pediatrics·1999

The Maintenance of Dysmyelinated Small-Diameter Axons by 14-3-3s in the Central Nervous System.

Glia·2026

From a Pinched Nerve to a Fatal Prognosis: Sporadic Creutzfeldt-Jakob Disease Masquerading as Cervical Myelopathy.

Cureus·2026

A Rare Case of Motor Neuropathy Secondary to Non-Hodgkin Lymphoma.

Cureus·2026

Combination of EZH2 and MEK inhibitors as an effective therapy for neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.

Neuro-oncology advances·2026

Magnetic resonance imaging applications to amyotrophic lateral sclerosis beyond the central nervous system.

Frontiers in neurology·2026

Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood.

Kidney international reports·2026

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Inherited lipid storage diseases of the central nervous system

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Microbial community changes in a female rat model of Rett syndrome.

Clinical severity and quality of life in children and adolescents with Rett syndrome.

Epilepsy and the natural history of Rett syndrome.

FXYD1, a modulator of Na,K-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitability.

New discoveries of skeletal elements of Hadropithecus stenognathus from Andrahomana Cave, southeastern Madagascar.

Early progressive encephalopathy in boys and MECP2 mutations.

Diagnosis and management of childhood food allergy.

Spina bifida and other neural tube defects.

Lead poisoning: a disease for the next millennium.

Attention deficit-hyperactivity disorder and its deceivers.

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The Maintenance of Dysmyelinated Small-Diameter Axons by 14-3-3s in the Central Nervous System.

From a Pinched Nerve to a Fatal Prognosis: Sporadic Creutzfeldt-Jakob Disease Masquerading as Cervical Myelopathy.

A Rare Case of Motor Neuropathy Secondary to Non-Hodgkin Lymphoma.

Combination of EZH2 and MEK inhibitors as an effective therapy for neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.

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