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Showing articles 0 to 38 of 38

Filter Applied: genetic neurologic disorders (Click to remove)

A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025

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

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

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019

A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018

Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018

Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018

A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016

A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007

Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006

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

Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005

Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998

Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995

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

Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990

Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990

Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989

Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988

MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987

Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
J Pediatr 110:522-530, Reid,C.S.,et al, 1987

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 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

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

Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980

Familial Fatal Parkinsonism with Alveolar Hypoventilation & Mental Depression
Ann Neurol 6:523-531, Purdy,A.,et al, 1979

Clinical Syndromes of Myasthenia in Infancy & Childhood
Arch Neurol 35:97, Fenichel,G.M., 1978

Obstructive Sleep Apnea in Family Members
NEJM 299:969-973, Strohl,K.P.,et al, 1978

Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972



Showing articles 0 to 38 of 38