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Showing articles 0 to 35 of 35

Filter Applied: developmental milestones,loss of (Click to remove)

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021

Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021

A Rare Case of Metachromatic Leukodystrophy with Multiple Bilateral Cranial Nerve Enhancement
Neurol 93:e1742-e1743, Sonowal, P.,et al, 2019

Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018

Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018

Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018

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

Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018

Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017

Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016

Clinicopathologic Conference, Aqueductal Stenosis with Hydrocephalus
NEJM 375:2583-2593, Case 40-2016, 2016

Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014

Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014

Juvenile Myasthenia Gravis: Recommendations for Diagnostic Approaches and Treatment
Neuropediatrics 45:75-83, Marina, A.D.,et al, 2014

Rapidly Progressive Leukoencephalopathy in Mitochondrial Complex I Deficiency
Neurol 81:e10-e11, Baertling, F.,et al, 2013

Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
Neurol 78: e126, Shah, S.,et al, 2012

Encephalitis Associated with Glutamic Acid Decarboxylase Autoantibodies in a Child A Treatable Condition?
Arch Neurol 68:1065-1068, Korff, C.M.,et al, 2011

Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010

Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009

Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993

Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992

Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
J Pediatr 121:710-714, Graham,S.M.,et al, 1992

Cerebral Artery Aneurysms in Children Infected with Human Immunodeficiency Virus
J Pediatr 121:927-930, Husson,R.N.,et al, 1992

Neurodegenerative Diseases of Childhood:MR and CT Evaluation
J Comput Assist Tomogr 15:210-222, Mirowitz,S.A.,et al, 1991

The Diagnosis of Childhood Neurodegenerative Disorders Presenting as Dementia in Adults
Neurol 41:794-798, Coker,S.B., 1991

Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990

Elevated Serum Levels of Tumor Necrosis Factor are Associated with Prog Encephalopathy in Children with AIDS
Am J Dis Child 143:771-774, Mintz,M.,et al, 1989

Neurological Manifestations in Three German Children with AIDS
Neuropediatrics 18:99-106, Biggemann,B.,et al, 1987

Alexander's Disease, A Disease of Astrocytes
Brain 108:367-385, Borrett,D.&Becker,L.E., 1985

Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983



Showing articles 0 to 35 of 35