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Filter Applied: hypotonia (Click to remove)

Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997

Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025

The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022

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

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

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

The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012

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

Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

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

Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999

Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996

Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996

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

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

Congenital Inflammatory Myopathy
Neurol 40:1111-1114, Shevell,M.,et al, 1990

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

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

Neurologic and Cognitive Deficits in Children with Cystinosis
J Pediatr 112:912-914, Trauner,D.A.,et al, 1988

Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987

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

Clin. Path. Conference
External Ophthalmoplegia with Mitochondrial Myopathy, Case Record 3-1985, NEJM 312:171-177985., , 1985

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

Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984

Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
Neurol 32:1013-1016, Ross,D.L.,et al, 1982

Clin. Path. Conference
Osteopetrosis, Malignant Juvenile Form, Case Record 37-1982, NEJM 307:735-74382., , 1982

Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981

Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
Arch Neurol 37:300-305, Sarnatt,H.B.,et al, 1980

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



Showing articles 0 to 30 of 30