Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Recurrent Cerebral Ischemia During Pregnancies
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Neuromyelitis Optica Spectrum Disorders
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Degenerative Diseases of the Nervous System, Familial Dementia with Spastic Paraparesis
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Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
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Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
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Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Familial Neuromyelitis Optica
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Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Hereditary Spastic Paraplegia
Arch Neurol 61:849-855,830, Orlacchio,A.,et al, 2004
The Hereditary Spastic Paraplegias
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia
Stroke 32:877-882, Maher,C.O.,et al, 2001
Hereditary Spastic Paraparesis: A Review of New Developments
JNNP 69:150-160, McDermott,C.J. et al, 2000
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Middle Cerebral Artery Main Stem Thrombosis in Two Siblings with Familial Thrombotic Thrombocytopenic Purpura
Neurol 50:1157-1160, Kelly,P.J.,et al, 1998
Sneddon's Syndrome:Neuro-Ophthalmologic Manifestations in a Possible Autosomal Recessive Pattern
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Hereditary Spastic Paraplegia:Advances in Genetic Research
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
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X-Linked Pure Familial Spastic Paraparesis
Arch Neurol 52:665-669, Cambi,F.,et al, 1995
Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
Ann Neurol 38:817-824, Hutchinson,M.,et al, 1995
Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
Neurol 45:2266-2271, Schwankhaus,J.D.,et al, 1995
Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
The Importance of Family History in Cerebrovascular Disease
Stroke 25:1599-1604, Graffagnini,C.,et al, 1994
Monomelic Amyotrophy
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Chronic Neurodegenerative Disease Associated with HTLV-II Infection
Lancet 339:645-646, Hjelle,B.,et al, 1992
A Familial Disorder with Subcortical Ischemic Strokes, Dementia, and Leukoencephalopathy
Neurol 42:1015-1019, Mas,J.L.,et al, 1992
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Cervical Dystonia:Clinical Findings and Associated Movement Disorders
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Bilateral Opercular Polymicrogyria
Ann Neurol 25:90-92, Becker,P.S.,et al, 1989
Risk of Brain Infarction in Familial Hypercholesterolemia
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988
Familial Cavernous Malformations of the Central Nervous System & Retina
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Hereditary Neuropathy with Liability to Pressure Palsies
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