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Spinal Muscular Atrophy
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Congenital Cytomegalovirus Infection
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Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
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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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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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The Autosomal Recessive Cerebellar Ataxias
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The Floppy Infant: Evaluation of Hypotonia
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A Floppy Child with Failure to Thrive
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Presentation of Narcolepsy After 40
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Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
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Alternating Hemiplegia of Childhood
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Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Sydenham Chorea
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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A Neonate with Micrognathia and Hypotonia
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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Dipsticks and Convulsions
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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Transsection of the Spinal Cord Associated with Breech Delivery
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Neonatal Idiopathic Cerebral Venous Thrombosis:An Unrecognized Cause of Transient Seizures or Lethargy
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Causal Heterogeneity in Isolated Lissencephaly
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Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
J Pediatr 121:710-714, Graham,S.M.,et al, 1992
A Clinical Study of Noonan Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
The Spectrum of Lissencephaly:Report of Ten Patients Analyzed by Magnetic Resonance Imaging
Ann Neurol 30:139-146, Barkovich,A.J.,et al, 1991
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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