Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders

(2016) Christian de Goede et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene

(2015) X. L. Wang et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Intracerebroventricular administration of α-ketoisocaproic acid decreases brain-derived neurotrophic factor and nerve growth factor levels in brain of young rats

(2015) Miriam S. W. Wisniewski et al.   METABOLIC BRAIN DISEASE

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

(2013) Amir Boukhris et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chronic administration of branched-chain amino acids impairs spatial memory and increases brain-derived neurotrophic factor in a rat model

(2012) Giselli Scaini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Distribution of the branched chain aminotransferase proteins in the human brain and their role in glutamate regulation

(2012) Jonathon Hull et al.   JOURNAL OF NEUROCHEMISTRY

Expression of mitochondrial branched-chain aminotransferase and α-keto-acid dehydrogenase in rat brain: implications for neurotransmitter metabolism

(2012) Jeffrey T. Cole et al.   Frontiers in Neuroanatomy

Interaction between glutamate dehydrogenase (GDH) and l-leucine catabolic enzymes: Intersecting metabolic pathways

(2011) Susan M. Hutson et al.   NEUROCHEMISTRY INTERNATIONAL

3-Methylglutaconic aciduria type I redefined: A syndrome with late-onset leukoencephalopathy

(2010) S. B. Wortmann et al.   NEUROLOGY

Sensory-motor polyneuropathy occurring in variant maple syrup urine disease

(2008) S. Harty et al.   JOURNAL OF INHERITED METABOLIC DISEASE