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Stroke in Williams Syndrome
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Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Mendelian Etiologies of Stroke
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Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Familial Stroke Syndrome Associated with Mitral Valve Prolapse
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UpToDate, Feb, Shovlin, C., 2011
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Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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NEJM 320:1300-1305, Singh,G.,et al, 1989
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
Ann Neurol 4:130-144, Roman,G.,et al, 1978
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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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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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Thyrotoxic Periodic Paralysis
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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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