Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neuronal Intranuclear Inclusion Disease Showing Intranuclear Inclusions in Renal Biopsy 12 Years Earlier
Neurol 91:884-886, Motoki, M.,et al, 2018
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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Chediak-Higashi Syndrome
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
Neurol 98:251-255, Decker, J. & Singh, M., 2022
Brain and Skin Involvement in Erdheim-Chester Disease
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An Unusual Cause of Sciatica in an Immunocompromised Patient
BMJ 372:n632, Kumar Singh, R., 2021
A 58-year-old Woman with Systemic Scleroderma and Progressive Cervical Cord Compression
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Neuro-Sweet Disease Presenting as Ischemic Stroke and Aseptic Meningitis
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Clinicopathologic Conference, Advanced AIDS Complicated by HSV-1 Encephalopathy. Basal-Cell Carcinoma. Kaposis Sarcoma.
NEJM 376:2580-2589, Case 20-2017, 2017
50 Year Old Man with Cloudy Vision, Hearing Loss, and Unsteadiness
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Spectrum of Imaging Appearances of Intracranial Cryptococcal Infection in HIV/AIDS Patients in the Anti-Retroviral Therapy Era
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Extraintestinal Manifestations of Coeliac Disease
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Clinicopath Conf., Degoss Disease
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Herpes Varicella Zoster Encephalitis in Immunocompromised Patients
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Neurology and the Skin
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Optic Neuritis Heralding Varicella Zoster Virus Retinitis in a Patient with Acquired Immunodeficiency Syndrome
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Lyme Neuroborreliosis
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Intracerebral Bacillary Angiomatosis in a Patient Infected with Human Immunodeficiency Virus
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Endocarditis in Intravenous Drug Abusers
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Neurological Manifestations in Xeroderma Pigmentosum
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Clinicopathological Conference
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Herpes Zoster-Associated Encephalitis:Clinicopathologic Report of 12 Cases and Review of the Literature
Medicine 62:81-95, Jemsek,J.,et al, 1983
Neurologic Complications of Lymphomatoid Granulomatosis
Neurol 31:619-620, Hogan,P.J.,et al, 1981
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Neurologic Abnormalities of Lyme Disease
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Extreme Insulin Resistance in Ataxia Telangiectasia
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Pellagra
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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