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Showing articles 0 to 46 of 46

Filter Applied: hypotonia (Click to remove)

A Young Woman with Rapidly Progressive Weakness and Paresthesia
Neurol 101:676-681, Alwakeel,S.S.,et al, 2023

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021

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

Clinicopath Conf
Placental Vascular Thrombosis Due to Listeria Infection, Cerebral Embolism and Infarction, Case 15-1, 97EJM 336:1439-1446,1997., 1997

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

The Neuropathy of Acute Intermittent Porphyria
Quart J Med 38:307, 1969 July., Ridley,A., 1969

Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024

Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021

Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
Neurol 90:518-519, Peddawad, D.,et al, 2018

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

Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017

Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 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

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010

Unexplained Seizures in an Infant
Lancet 373:94, Astuto,M.,et al, 2009

Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009

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

The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006

A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Dipsticks and Convulsions
Lancet 352:1824, Koch,H., 1998

An Infant with Encephalitis
Lancet 350:1594, Yeung,W.L.,et al, 1997

Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996

Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
Arch Pediatr Adolesc Med 149:764-768, Miller,G.,et al, 1995

Adverse Events Following Pertussis and Rubella Vaccines, Summary of a Report of the Institute of Medicine
JAMA 267:392-396, Howson,C.P.&Fineberg,H.V., 1992

Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
Ann Neurol 31:64-68, Perlman,J.M.&Argyle,C., 1992

Transsection of the Spinal Cord Associated with Breech Delivery
Am J Dis Child 146:351-352, DiMario,F.J.&Wood,B.P., 1992

Neonatal Idiopathic Cerebral Venous Thrombosis:An Unrecognized Cause of Transient Seizures or Lethargy
Ann Neurol 32:51-56, Rivkin,M.J.,et al, 1992

Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992

Clin & Lab Obser Neurologic Sequelae in Transient Nonketotic Hyperglycinemia of the Neonate
J Pediatr 121:620-621, Eyskens,F.J.M.,et al, 1992

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991

A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
Ann Neurol 27:193-199, Lyon,G.,et al, 1990

Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989

The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988

Alternating Hemiplegia of Childhood
Int Pediatr 2:115-119, Aicardi,J., 1987

Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985

Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985

The Neuropathology of Glycine Encephalopathy:Five Cases with Immunohistochemical & Ultrastructural Observations
Neurol 32:975-985, Agamanolis,D.P.,et al, 1982

Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978

Lumbosacral Radiculomyelitis Assoc with Pandemic Acute Hemorrhagic Conjunctivitis
Letter Lancet Feb 1973., Wadia,N.H.,et al, 1973



Showing articles 0 to 46 of 46