Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neurofibromatosis Type I in Children
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
Neurol 39:487-492, Baptiste,M.,et al, 1989
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Von Recklinghausen Neurofibromatosis
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Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
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Multiple Endocrine Neoplasia, Type 2b:Phenotype Recognition; Neurological Features & Their Pathological Basis
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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The Spectrum of Fragile X Disorders
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A 9-Year-Old Girl with CNS Immune Dysregulation
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Genome Sequencing in the NICU and PICU is Here to Stay
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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RNF213 Polymorphisms in Intracranial Artery Dissection
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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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
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neonatal Seizures
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