Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
"Boule Du Biceps" in Dysferlinopathy
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Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
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Sudden Cardiac Death in Myotonic Dystrophy Type 2
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Risdiplam in Presymptomatic Spinal Muscular Atrophy
NEJM 393:671-682, Finkel,R.S.,et al, 2025
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
Clinicopathologic Conference, Intraparenchymal & Intracranial Hemorrhage due to Birth Trauma
NEJM 382:656-664, Case 5-2020, 2020
Distinctive Imaging in a Paucisymptomatic Child with Leukodystrophy
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Venous Thromboembolism in Amyotrophic Lateral Sclerosis
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Hemorrhagic Transformation of Childhood Arterial Ischemic Stroke
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"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
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Resuscitation at Birth and Cognition at 8 Years of Age: A cohort Study
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Prevalence and Evolution of Intracranial Hemorrhage in Asymptomatic Term Infants
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The Tuberous Sclerosis Complex
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Silent Infarcts in Children With Sickle Cell Anemia and Abnormal Cerebral Artery Velocity
Arch Neurol 58:2017-2021, Pegelow,C.H.,et al, 2001
The Spectrum of Brain MR Abnormalities in Sickle-Cell Disease:A Report from the Cooperative Study of Sickle Cell Disease
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