Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017
Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
Neurol 86:e58-e59, Sgobbi de Souza, P.V.,et al, 2016
SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Cerebellar Degeneration
Adams & Victors Principles of Neurology, Chp 39, pg 1105, Ropper, A.H.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1176, Ropper, A.H.,et al, 2014
Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014
Copper Deficiency
BMJ 348:g3691, Chhetri, S.K.,et al, 2014
Subacute Sclerosing Panencephalitis
www.MedLink.com, February, Auwaeter,P.G.&Johnson,R.T., 2013
Bilateral Cerebellar Peduncle Lesions in JC Virus Encephalitis
IJID 17:e1086-e1087, , 2013
Adult-Onset Opsoclonus-Myoclonus Syndrome
Arch Neurol 69:1598-1607, Klaas, J.,et al, 2012
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
JC Viral Infection-Related Cerebellar Degeneration as the First Manifestation of AIDS
Eur Neurol 59:205-207, Shin,H.-W.,et al, 2008
A Parkinsonian Syndrome in Methcathinone Users and the Role of Manganese
NEJM 358:1009-1017, Stepens,A.,et al, 2008
Downbeat Nystagmus: Aetiology and Comorbidity in 117 Patients
JNNP 79:672-677, Wagner,J.N.,et al, 2008
Neurological,Cardiological,and Oculomotor Progression in 104 Patients with Freidreich Ataxia During Long-Term Follow-Up
Arch Neurol 64:558-564, Rabai,P.,et al, 2007
Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
Late-Onset Friedreich Ataxia
Arch Neurol 62:1865-1869, Bhidayasiri,R.,et al, 2005
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Friedreich Ataxia
Arch Neurol 59:743-747, Lynch,D.R.,et al, 2002
Genetic Testing in Spinocerebellar Ataxias
Arch Neurol 58:191-195, Tan,E. &Ashizawa,T., 2001
Gluten Sensitivity in Sporadic and Hereditary Cerebellar Ataxia
Ann Neurol 49:540-543, Bushara,K.O.,et al, 2001
Increased Levels of Plasma Malondialdehyde in Friedreich Ataxia
Neurol 55:1752-1753,1600, Emond,M.,et al, 2000
Clinicopath Conf,Cerebral Amyloid Angiogpathy and Giant-Cell Inflammatory Reaction to Beta 4-Amyloid and Vasculitis, Case 10-2000
NEJM 342:957-965, , 2000
Very Late-Onset Friedreich Ataxia Despite Large GAA Triplet Repeat Expansions
Arch Neurol 57:246-251, Bidichandani,S.I.,et al, 2000
Cerebellar Degeneration Associated With Human Immunodeficiency Virus Infection
Neurol 50:244-251, Tagliati,M.,et al, 1998
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Friedreich's Ataxia GAA Repeat Expansion in Pts with Recessive or sporadic Ataxia
Neurol 49:1004-1009, Geschwind,D.H.,et al, 1997
Broadened Friedreich's Ataxia Phenotype after Gene Cloning, Minimal GAA Expan Causes Late Spastic Ataxia
Neurol 49:1617-1620, Ragno,M.,et al, 1997
Atrophy of Cerebellum & Brainstem in Dentatorubral Pallidoluysian Atrophy, CAG Repeat Size on MRI Findings
Neurol 49:1605-1612, Koide,R.,et al, 1997
Multiple-System Atrophy is Genet Distinct from Ident Inherited Causes of Spinocerebellar Degen
Neurol 49:1598-1604, Brandmann,O.,et al, 1997
Calcium Channels in Neurological Disease
Ann Neurol 42:275-282, Greenberg,D.A., 1997
Phenotypic Variability in Friedreich Ataxia:Role of the Associated GAA Triplet Repeat Expansion
Ann Neurol 41:675-682, Montermini,L.,et al, 1997
Frataxin Gene of Friedreich's Ataxia is Targeted to Mitochondria
Ann Neurol 42:265-269, Priller,J.,et al, 1997
Cytomegalovirus Encephalitis
Ann Int Med 125:577-578, Arribas,J.R.,et al, 1996
The Inherited Ataxias and the New Genetics
JNNP 61:327-332, Hammans,S.R., 1996
Age on Onset, Sex, & Cardiomyopathy as Predictors of Disability and Survival in Friedreich's Disease
Neurol 47:1260-1264, DeMichele,G.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Isolated Vitamin E Deficiency
Muscle & Nerve 19:1161-1165996., Jackson,C.E.,et al, 1996
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Levorotatory Form of 5-Hydroxytryptophan in Friedreich's Ataxia
Arch Neurol 52:456-460, Trouillas,P.,et al, 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
NEJM 333:1313-1318, 13511995., Gotoda,T.,et al, 1995
Spinocerebellar Ataxias and Ataxins
NEJM 333:1351-1353, Rosenberg,R.N., 1995
Acute Lumbosacral Polyradiculopathy in Acquired Immunodeficiency Syndrome:Experience in 23 Patients
Ann Neurol 35:53-58, So,Y.T.&Olney,R.K., 1994
Disseminated Active HIV-6 Infections in Patients with AIDS
Lancet 343:577-578, 5551994., Knox,K.K.&Carrigan,D.R., 1994
Structural and Functional Brain Imaging in Friedreich's Ataxia
Arch Neurol 51:349-355, Junck,L.,et al, 1994
Friedreich's Ataxia:MR Findings Involving the Cervical Portion of the Spinal Cord
AJR 163:187-191, Mascalchi,M.,et al, 1994