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Showing articles 0 to 8 of 8

Filter Applied: seizure,children (Click to remove)

FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018

Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992

Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020

Progressive Gait Deterioration in Adolescents with Dravet Syndrome
Arch Neurol 69:873-878, Rodda, J.M.,et al, 2012

The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009

Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006

Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002

Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998



Showing articles 0 to 8 of 8