The Spectrum of Fragile X Disorders
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Neurological Findings in Patients with the Fragile-X Syndrome
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Fragile X Chromosome & X-Linked Mental Retardation
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Heterozygous Expression Of X-Linked Mental Retardation & X-chromosome Marker fra (X) (q27)
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Multivessel Cerebral Occlusion in Noonan Syndrome
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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A 53-year-old Woman with Lower Extremity Paresthesias
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A Neonate with Micrognathia and Hypotonia
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Hydrocephalus in Children
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Finding the Causes of Inherited Neuropathies
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Prader-Willi and Angelman Syndromes
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Cortically Evoked Motor Responses in Patients with Xp22. 3-Linked Kallmann's Syndrome and in Female Gene Carriers
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Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
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Cockayne Syndrome: Review of 140 Cases
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X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome) A Kindred with Hypobetalipoproteinemia
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Joubert Syndrome:A Clinico-Radiological Study
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Refsum Disease
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Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy
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Cerebral Ventricular Dilation in Congenital Myotonic Dystrophy
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Familial Occurrence of Idiopathic Normal-Pressure Hydrocephalus
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Congenital Hydrocephalus & Eye Abnormalities with Severe Developmental Brain Defects:Warburg's Syndrome
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Familial Porencephaly
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Clinicopathological Conference
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A Surgical Approach To The Treatment Of Fetal Hydrocephalus
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Lipomembranous Polycystic Osteodysplasia with Progressive Dementia
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Placement Of Ventriculo-Amniotic Shunt For Hydrocephalus In A Fetus
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Dejerine-Sottas Disease Revisited
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Computed tomography in Hallervorden-Spatz disease
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Enlarged Cerebral Ventricular System in Infant Achondroplastic Dwarf
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Myotonic Dystrophy
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Abnormal Iris Vasculature in Myotonic Dystrophy
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Familial Hypopituitarism with Large Sella Turcica
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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CT Scanning & Diagnosis of Adrenoleukodystrophy
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Adrenomyeloneuropathy:A Probable Variant of Adrenoleukodystrophy
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The Oculopharyngeal Syndrome
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Clinical Study of Nine Patients with ReNU Syndrome
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