Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles

Paradoxical Improvement of Schizophrenic Symptoms by a Dopaminergic Agonist: An Example of Personalized Psychiatry in a Copy Number Variation–Carrying Patient

(2016) Charlotte Alexandre et al.   BIOLOGICAL PSYCHIATRY

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

(2016) Davide Tonduti et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

(2016) Gabriella A. Horvath et al.   MOLECULAR GENETICS AND METABOLISM

Exome Sequencing and the Management of Neurometabolic Disorders

(2016) Maja Tarailo-Graovac et al.   NEW ENGLAND JOURNAL OF MEDICINE

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

(2015) P. Burda et al.   JOURNAL OF INHERITED METABOLIC DISEASE

SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery

(2015) Neetu Saxena et al.   JNCI-Journal of the National Cancer Institute

Monoamine neurotransmitter disorders—clinical advances and future perspectives

(2015) Joanne Ng et al.   Nature Reviews Neurology

The Organic Anion Transporter (OAT) Family: A Systems Biology Perspective

(2015) Sanjay K. Nigam et al.   PHYSIOLOGICAL REVIEWS

SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery

(2015) Neetu Saxena et al.   JNCI-Journal of the National Cancer Institute

What is new for monoamine neurotransmitter disorders?

(2014) Clara Marecos et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Distinct neurological disorders with ATP1A3 mutations

(2014) Erin L Heinzen et al.   LANCET NEUROLOGY

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

(2014) Mathilde Nizon et al.   MITOCHONDRION

Aromatic L-Amino Acid Decarboxylase Deficiency Is a Cause of Long-Fasting Hypoglycemia

(2013) Jean-Baptiste Arnoux et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

(2013) Gillian I Rice et al.   LANCET NEUROLOGY

Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment

(2013) Jennifer J. Rilstone et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes

(2013) Marta Molero-Luis et al.   PLoS One

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

(2012) F. Cartault et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Impaired Nutrient Signaling and Body Weight Control in a Na+Neutral Amino Acid Cotransporter (Slc6a19)-deficient Mouse

(2011) Angelika Bröer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

(2011) Jennifer L Sloan et al.   NATURE GENETICS

rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA

(2011) N. Haud et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

(2010) Manju A Kurian et al.   LANCET NEUROLOGY

A FOXG1 mutation in a boy with congenital variant of Rett syndrome

(2010) Tangui Le Guen et al.   NEUROGENETICS

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

(2010) L. Brun et al.   NEUROLOGY

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

(2009) Derek E. Neilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

(2009) Robert Steinfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS