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Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
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Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
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Hereditary Cerebral Cavernous Angiomas:Clinical and Genetic Features in 57 French Families
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Linkiage of Locus for Cerebral Cavernous Hemagiomas to Chromosome 7q in 4 Families of Mexican-American Descent
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Familial Cerebral Cavernous Angiomas:Clinical and Radiologic Studies
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Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
Arch Neurol 49:170-173, Malik,S.,et al, 1992
Cerebral Cavernous Malformations:Incidence and Familial Occurrence
NEJM 319:343-347, Rigamonti,D.,et al, 1988
Familial Cavernous Malformations of the Central Nervous System & Retina
Ann Neurol 21:578-583, Dobyns,W.B.,et al, 1987
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
BMJ 290:350-352, Wintzen,A.R.,et al, 1985
Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984
Blue Rubber Bleb Nevus Syndrome with CNS Involvement & Thrombosis of a Vein of Galen Malformation
Ann Neurol 3:464, Waybright,E.A.,et al, 1978
Familial Cavernous Angiomas
Arch Neurol 35:746-749, Bicknell,J.M.,et al, 1978
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
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
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
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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"Disappearing Infarct" Is Late-Onset MELAS
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Duchenne Muscular Dystrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Complex Ataxia
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Pediatric Leigh Syndrome
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
AJNR 40:199-203, Pascual, B.,et al, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018