Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
Stroke 42:e1-e3, Ng, A.S.L.,et al, 2011
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
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
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Dopamine-Responsive Dystonia
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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The Hereditary Spastic Paraplegias
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
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The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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The Epilepsy of Trisomy 9p
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X-Linked Malformation of Neuronal Migration
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The Inherited Ataxias and the New Genetics
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Spinocerebellar Ataxias and Ataxins
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
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Wilson Disease
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Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
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Agenesis of the Corpus Callosum:A Study of the Frequency of Associated Malformations
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Ataxia Telangiectasia
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The Lissencephaly, (Agyria) Syndrome in Siblings
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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Corneal Opacification in Infancy
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The Cornelia de Lange Syndrome
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