A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Spinal Muscular Atrophy
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A Neonate with Micrognathia and Hypotonia
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The Limbic-Girdle Muscular Dystrophies
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Clinicopath Conf
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Myotonic Dystrophy
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Hyperostosis Cranialis Interna
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Central Core Disease, Clinical Features in 13 Patients
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Familial Recurrent Bell's Palsy with Ocular Motor Palsies
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Familial Amyloidosis with Cranial Neuropathy & Corneal Lattice Dystrophy
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Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Two Cases of Van Buchem's Disease
JNNP 45:913-918, Dixon,J.M.,et al, 1982
Familial Recurrent Peripheral Facial Palsy
Arch Neurol 38:463-464, Auerbach,S.H.,et al, 1981
Congenital Myotonic Dystrophy
Arch Neurol 37:693-696, Argov,Z.,et al, 1980
Duane Syndrome & Congential Upper-Limb Anomalies:A Familial Occurrence
Arch Neurol 34:174, Okihiro,M.M.,et al, 1977
Ocular Myopathy
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Sturge-Weber Syndrome
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Sturge-Weber Syndrome
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The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Tuberous Sclerosis
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Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Dystonia
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