CT and MR Findings of Neuroacanthocytosis
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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Erythromelalgia:Review of Clinical Characteristics and Pathophysiology
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Ehlers-Danlos Syndromes
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Primary Brain Tumours in Adults
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Hereditary Hemorrhagic Telangiectasia
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Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Brain Tumors
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Mendelian Etiologies of Stroke
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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More Than a Little Unsteady
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Amyotrophic Lateral Sclerosis
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
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A 53-year-old Woman with Lower Extremity Paresthesias
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Complex Ataxia
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Recurrent Cerebral Ischemia During Pregnancies
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A 54-year-old man with Dyspnea and Muscle Weakness
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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A Teenager with Persistent Headache
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Recurrent Epistaxis in an Adolescent
BMJ 367:I5393, McLaren, O. & Ronan, N., 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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Clinical Epidemiology of Familial Sarcoidosis
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A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Clinical Reasoning: A Teenager with Left Arm Weakness
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