Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
Neurol 60:57-63,8, Vahedi,K.,et al, 2003
Learning Disability
Lancet 362:811-821, Gillberg,C.&Soderstrom,H., 2003
Familial Infantile Bilateral Striatal Necrosis
Neurol 59:983-989, Straussberg,R.,et al, 2002
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
Ann Neurol 46:671-678, Peiffer,A.,et al, 1999
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
Inherited Prothrombotic States and Ischaemic Stroke in Childhood
JNNP 65:508-511, Ganesan,V.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
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Dipsticks and Convulsions
Lancet 352:1824, Koch,H., 1998
Predictors of Recurrent Febrile Seizures
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Neurogenic Muscle Hypertrophy
Muscle & Nerve 19:811-818996., Gutmann,L., 1996
From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Benign Familial Nocturnal Alternating Hemiplegia of Childhood
Neurol 44:1812-1814, Andermann,E.,et al, 1994
Congenital Myasthenic Syndromes
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Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
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Aicardi's Syndrome:MR Appearance of Unusual Orbital and Ventricular Cystic Lesions
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Acetylcholine Receptor Antibodies in Juvenile Myasthenia Gravis
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Twinning and Neurologic Morbisity
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Neuroaxonal Dystrophy Due to Lysosomal a-N-Acetylgalactosaminidase Deficiency
NEJM 320:1735-1740, Schindler,D.,et al, 1989
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CT in Ceroid Lipofuscinosis
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