Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Primary Lateral Sclerosis, A Clinical Diagnosis Reemerges
Arch Neurol 45:1304-1307, Younger,D.S.,et al, 1988
Multiple-System Atrophy
NEJM 372:249-263, Fanciulli, A. & Wenning, G.K., 2015
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
Neurol 45:24-30, Genis,D.,et al, 1995
Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
MRI and SPECT in Amyotrophic Lateral Sclerosis, Demonstr of Upper Motor Neurone Invol by Neuroimaging
Neuroradiology 34:389-393, Udaka,F.,et al, 1992
Primary Lateral Sclerosis, Clin Features, Neuropath & Dx Criteria
Brain 115:495-520, Pringle,C.E.,et al, 1992
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Neuronal Intranuclear Inclusion Disease in a Child:Diagnosis by Rectal Biopsy
Ann Neurol 27:103-106, Goutieres,F.,et al, 1990
Selective Involvement of the Pyramidal Tract on Magnetic Resonance Imaging in Primary Lateral Sclerosis
Neurol 40:1799-1800, Marti-Fabregas,J.&Pujol,J., 1990
Familial Idiopathic Striopallidodentate Calcifications
Neurol 39:381-385, Ellie,E.,et al, 1989
Primary Lateral Sclerosis in a Child
Neurol 39:1530-1532, Grunnet,M.L.,et al, 1989
Chronic Progressive Spinobulbar Spasticity, A Rare Form of Primary Lateral Sclerosis
Arch Neurol 45:509-513, Gastaut,J.L.,et al, 1988
Lathyrism:Evidence for Role of the Neuroexcitatory Aminoacid BOAA
Lancet 2:1066-1067, Spencer,P.S.,et al, 1986
Clinical & Electrophysiological Studies in Primary Lateral Sclerosis
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Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
Neurol 28:703, Coutinho,P.,et al, 1978
Degenerative Diseases of the Nervous System, Primary Lateral Sclerosis
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SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
Adams & Victors Principles of Neurology, Chp 33, pg 773, Ropper, A.H.,et al, 2014
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005
CMT with Pyramidal Features
Neurol 60:696-699, Vucic,S.,et al, 2003
Brainstem Gliomas in Adults: Prognostic Factors and Classification
Brain 124:2528-2539, Guillamo,J.-S.,et al, 2001
Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
Arch Neurol 57:520-524, Verrips,A.,et al, 2000
Cognitive and Brain Magnetic Resonance Imaging Findings in Adrenomyeloneuropathy
Ann Neurol 40:675-678, Edwin,D.,et al, 1996
Clinicopathological Study of 35 Cases of Multiple System Atrophy
JNNP 58:160-166, Wenning,G.K.,et al, 1995
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
The Motor Disorder of Multiple System Atrophy
JNNP 56:1239-1242, Quinn,N.P.&Marsden,C.D., 1993
Neurologic Aspects of Cobalamin Deficiency
Medicine 70:229-245, Healton,E.B.,et al, 1991
The Acquired Immunodeficiency Syndrome (AIDS) Dementia Complex
Ann Int Med 111:400-410, Ho,D.D.,et al, 1989
Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
Neurol 39:1446-1452, Farlow,M.R.,et al, 1989
Pediatric Acquired Immunodefieiency Syndrome
Am J Dis Child 142:29-35, Belman,A.L.,et al, 1988
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Clinical Criteria for Diagnosis of Machado-Joseph Disease:Report of a Non-Azorean Portuguese Family
Neurol 30:319-322, Lima,L.,et al, 1980
Agenesis of the Corpus Callosum:A Study of the Frequency of Associated Malformations
Ann Neurol 6:349-354, Parrish,M.L.,et al, 1979
Familial Inverted Choreoathetosis
Neurol 29:1627-1631, Fisher,M.,et al, 1979
Brain Stem Tumors of Childhood & Adolescence
Am J Dis Child 119:465-472, Panitch,H.S.,et al, 1970