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Hereditary Hemorrhagic Telangiectasia
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Brain Tumors
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Neuroimaging Features of Biotinidase Deficiency
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Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Recurrent Cerebral Ischemia During Pregnancies
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Dopa-Responsive Dystonia Revisited
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An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Neurofibromatosis
JAMA 300:352, Torpy,J.M.,et al., 2008
Tuberous Sclerosis
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Amyotrophic Lateral Sclerosis
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Parkinson's Disease
Lancet 363:1783-1793, Samii,A.,et al, 2004
Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
NEJM 348:1442-1448,1480, Siddiqui,A.,et al, 2003
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001
N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Spinocerebellar Ataxias and Ataxins
NEJM 333:1351-1353, Rosenberg,R.N., 1995
Myoblast Transfer in Duchenne Muscular Dystrophy
Ann Neurol 34:8-18, Karpati,G.,et al, 1993
Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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The Dystonias
BMJ 300:139-144, Marsden,C.D.&Quinn,N.P., 1990
Neurofibromatosis Type I in Children
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Narcolspey
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