Tattoo Reaction - A Diagnostic Clue in Neurosarcoidosis
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Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
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Clinicopathologic Conference, Rocky Mountain Spotted Fever
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Clinicopath Conf:Carcinoma of Stomach with Leptomeningeal Carcinomatosis, DIC, Cortico-subcortical Infarcts
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Carbamazepine Hypersensitivity Syndrome:Report of 4 Cases & Review of Literature
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Neurologic Manifestations of Progressive Systemic Sclerosis, 1972
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Brain and Skin Involvement in Erdheim-Chester Disease
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A Triad of Tremor, Ataxia, and Cognitive Impairment
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A 65-Year-Old Woman with Tremor
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Ehlers-Danlos Syndromes
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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A 23-Year-Old Man With Seizures and Visual Deficit
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
Mucolipidosis Type IV; Characteristic MRI Findings
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
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Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
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Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
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Skin & Conjunctival Nerve Biopsies in Adreno-leukodystrophy & Its Variants
Ann Neurol 8:291-295, Martin,J.J.,et al, 1980
Clinical Pathological Conference
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Spinocerebellar Degeneration:Hexosaminidase A & B Deficiency in Two Adult Sisters
Neurol 29:380-384, Oonk,J.G.W.,et al, 1979
Pseudoxanthoma Elasticum:A Review of Neurological Complications
Ann Neurol 4:18, Iqbal,A.,et al, 1978
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
Arch Neurol 34:123, Singh,N.,et al, 1977
Chronic Hexosaminidase A & B Deficiency
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