A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Chediak-Higashi Syndrome
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Extreme Insulin Resistance in Ataxia Telangiectasia
NEJM 298:1164, Bar,R.S.,et al, 1978
Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
NEJM 289:286, Hecht,F.,et al, 1973
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
Neurol 98:251-255, Decker, J. & Singh, M., 2022
Sturge-Weber Syndrome
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Brain and Skin Involvement in Erdheim-Chester Disease
Neurol 96:e1590-e1592, Budhram, A.,et al, 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
A 58-year-old Woman with Systemic Scleroderma and Progressive Cervical Cord Compression
Neurol 91:e1262-e1264, Karschnia, P.,et al, 2018
Neuronal Intranuclear Inclusion Disease Showing Intranuclear Inclusions in Renal Biopsy 12 Years Earlier
Neurol 91:884-886, Motoki, M.,et al, 2018
Neuro-Sweet Disease Presenting as Ischemic Stroke and Aseptic Meningitis
Neurol 91:e2197-e2199, Das, A.S.,et al, 2018
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Extraintestinal Manifestations of Coeliac Disease
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Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
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Sturge-Weber Syndrome
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
Sturge-Weber Syndrome
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An unusual cause of stroke and hypoxia
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Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Nearly Completely Reversible Brain Abnormalities in a Patient With Incontinentia Pigmenti
AJNR 29:431-433, Lou,H.,et al, 2008
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Overview of Phenylketonuria
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Phenylketonuria
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The Tuberous Sclerosis Complex
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Clinicopath Conf., Degoss Disease
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Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Craniofacial and Cutaneous Findings Expand the Phenotype of Hereditary Neuralgic Amyotrophy
Neurol 57:1963-1968, Jeannet,P.,et al, 2001
Angiographic and Clinical Characteristics of Patients with Cerebral Arteriovenous Malformations Associated with Hereditary Hemorrhagic Telangiectasia
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National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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