Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Prader-Willi and Angelman Syndromes
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A 55-Year-Odd Man with Old Behavior and Abnormal Movements
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Neuroimaging Changes in Menkes Disease, Part 1
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Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Galactosemia
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004
Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
Lancet 348:1068-1069, Wevrick,R.&Francke,U., 1996
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Physical Features of Prader-Willi Syndrome in Neonates
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Alexander's Disease, A Disease of Astrocytes
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The Cornelia de Lange Syndrome
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