Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
Corpus Callosum Splenium Hyperintensity in Fragile X-Associated Tremor Ataxia Syndrome
Neurol 84:e194, Renard, D.,et al, 2015
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
Initial Diagnoses Given to Persons with the Fragile X Associated Tremor/Ataxia Syndrome (FXTAS)
Neurol 65:299-301, Hall,D.A.,et al, 2005
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Learning Disability
Lancet 362:811-821, Gillberg,C.&Soderstrom,H., 2003
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
AJNR 23:1757-1766, Brunberg,J.A.,et al, 2002
A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996
Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
J Pediatr 127:193-199, Majnemer,A.&Shevell,M.I., 1995
Rapid Antibody Test for Fragile X Syndrome
Lancet 345:1147-1148, Willemsen,R.,et al, 1995
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Advances in Molecular Analysis of Fragile X Syndrome
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Do Young Boys with Fragile X Syndrome have Macroorchidism
Pediatrics 93:992-995, Lachiewicz,A.M.&Dawson,D.V., 1994
Neuroanatomy of Fragile X Syndrome:The Temporal Lobe
Neurol 44:1317-1324, Reiss,A.L.,et al, 1994
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991
Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991
Neuroanatomy of Fragile X Syndrome:The Posterior Fossa
Ann Neurol 29:26-32, Reiss,A.L.,et al, 1991
False Negative Results in Patients with fra (X) (q) Mental Retardation Taking Oral Vitamin Supplements
NEJM 316:1093, Froster-Iskenius,U.,et al, 1987
Fragile X Syndrome
J Pediatr 110:821-831, Chudley,A.E.&Hagerman,R.J., 1987
Preventive Screening for the Fragile X Syndrome
NEJM 315:607-609, Turner,G.,et al, 1986
Preventive Screening for Fragile X Syndrome
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Fragile X Syndrome:Associated Neurological Abnormalities & Developmental Disabilities
Ann Neurol 18:665-669, Wisniewski,K.E.,et al, 1985
Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
Prenatal Diagnosis of Fragile X Chromosome
Lancet 1:99-100, Shapiro,L.R.,et al, 1982
Infantile Autism Associated with the Fragile-X Syndrome
Journal of Autism & Developmental Disorders 12:295-301982., Meryash,D.L.,et al, 1982
Fragile X Chromosome & X-Linked Mental Retardation
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The Fragile X-Chromosome Mental Retardation & Large Testes
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X-Linked Mental Retardation
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Heterozygous Expression Of X-Linked Mental Retardation & X-chromosome Marker fra (X) (q27)
NEJM 303:662-664, Turner,G.,et al, 1980
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinicopathologic Conference, Paraneoplastic Vasculitis of the Central Nervous System
NEJM 388:747-757, Case 6-2023, 2023
A 60-Year Old Man with Asymmetric Weakness and Persistent Fever
Neurol 100:530-536, Zheng,Y.,et al, 2023
Pathogenesis and Clinical Manifestations of IgG4-Related Disease
WWW.UptoDate.com, April, Moutsopoulos,H.M.,et al, 2023
A 47-Year-Old Man With an Upper Respiratory Infection, Acute Confusion, Dysarthria, and Ataxia
Neurol 100:978-983, Kubicki,K.,et al, 2023
Multiple "Rings" in the Brain
BMJ 383:e077299, Li,Y.et al, 2023
A 22-Year-Old Man with Multifocal Brain and Osseous Lesions
Neurol 101:1025-1031, Reddy,S.,et al, 2023
A 67-Year-Old Woman with Progressive Diplopia, Vertigo, and Ataxia
Neurol 98:e669-e674, Sakoda, M.,et al, 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
A Woman with Eosinophilic Brainstem Meningoencephalitis
JAMA Neurol 79:198-199, Fernandes Ferreira, L.,et al, 2022