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Differential
(Click to cross reference)
bulbar palsy
chromosome 11
compartment syndrome
creatine phosphokinase(CPK)elevated
electrocardiogram, abnormal
electromyogram
enzyme, defect
enzyme, muscle disease
exercise
exercise intolerance
exercise-related muscle strength increase
familial
fatigue
floppy infant
gene
genetic neurologic disorders
glycogen storage disease
hypotonia, infants
iatrogenic neurologic disorders
ischemic exercise test
leukocytes
McArdle's disease
McArdle's disease, adult onset
misdiagnosis
molecular genetics
muscle atrophy, progressive
muscle atrophy, static
muscle biopsy
muscle cramp
muscle pain
muscle phosphofructokinase deficiency
muscle phosphorylase deficiency
muscle stiffness
muscle weakness
muscle weakness, proximal
myoglobinuria
myopathy
myopathy, metabolic
neurologic disease, diagnoses of
pain
pain, arm
PAS positive
phosphorylase b kinase deficiency
polymerase chain reaction
proximal muscle atrophy
renal failure
respiratory failure
review article
RFLPs
second wind phenomena
seizure
treatment of neurologic disorder
urine, dark
weakness
weakness, generalized
Showing articles 0 to 50 of 1431 Next >>

Spontaneous "Second Wind" and Glucose-Induced Second "Second Wind" in McArdle Disease
Arch Neurol 59:1395-1402, Haller,R.G.&Vissing,J., 2002

Acute Compartment Syndrome After Forearm Ischemic Work Test in a Patient with McArdle's Disease
Neurol 56:1779-1780, Lindner,A.,et al, 2001

Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996

Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993

McArdle's Disease with Late-Onset Symptoms:Case Report & Review of the Literature
JNNP 55:407-408, Felice,K.J.,et al, 1992

McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985

Fatal Infantile Form of Muscle Phosphorylase Deficiency
Neurol 28:1124-1129, DiMauro,S.,et al, 1978

Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023

Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017

A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016

Bright Tongue Sign in Pompe Disease
Neurol 86:401, Karam, C., 2016

"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011

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

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

Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995

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

Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992

Clinicopath Conf
Myopathy Due to Adult Acid Maltase Deficiency, 36-1986, NEJM 315:694-701986., , 1986

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

The Ultrastructure of the Sural Nerve in Pompe's Disease
Ann Neurol 2:111, Goebel,H.H.,et al, 1977

The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977

CT and MR Imaging of Neuroaxonal Leukodystrophy Presenting as Early-Onset Frontal Dementia
AJNR 27:1037-1039, Mascalchi,M.,et al, 2006

Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006

Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005

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

Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990

Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
NEJM 315:296-305, Berkovic,S.F.,et al, 1986

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

Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981

Lipid Storage Myopathy:Successful Treatment with Propranolol
BMJ 282:1997-1999, Martyn,C.,et al, 1981

Alzheimer Neurofibrillary Tangles in Diseases Other Than Senile & Presenile Dementia
Ann Neurol 5:288-294, Wisniewski,K.,et al, 1979

Progressive Paresis of Vertical Gaze in Lipid Storage Disease
Neurol 21:896, Grover,W., 1971

Repurposing Erectile Dysfunction Medication for Alzheimer Disease Prevention
Neurol 102:e209180, Yasara,S., & Nidadavolu,L., 2024

Clinical,Neuroimaging,and Genetic Markers in Cerebral Amyloid Angiopatny-Related Inflammation:A Systematic Review and Meta-Analusis
Stroke 54:178-188, Theodorou,A.,et al, 2023

Rapidly Progressive Dementia in a Man With HIV Infection and Undetectable Plasma Viral Load
Neurol 100:344-348, Chishimba,L.C.,et al, 2023

Toward Simpler, Safer Treatment of Cryptococcal Meningitis
NEJM 386:1179-1181, Moosa, M.Y.S. & Lessells, R.J., 2022

Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022

New Onset Focal Tremor in Patient with Human Immunodeficienccy Virus
Clin Infect Dis 75:1861-1863, Finelli,P.F., 2022

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

A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022

Headache, Cognitive Decline, and a Curious Rim-Enhancing Lesion
JAMA Neurol 78:613-614, Beaman, C.B.,et al, 2021

HIV Infection - Screening, Diagnosis, and Treatment
NEJM 384:2131-2143, Saag, M.S., 2021

Complete Evaluation of Dementia: PET and MRI Correlation and Diagnosis for the Neuroradiologist
AJNR 42:998-1007, Oldan, J.D.,et al, 2021

Initial Management of Seizure in Adults
NEJM 385:251-263, Smith, P.E.M., 2021

Clinicopathologic Conference, Cerebral Amyloid Angiopatny-Related Inflammation
NEJM 385:358-368, Case 22-2021, 2021

Vitamin B12 Deficiency in a 29-Year-Old Woman
Neurol 97:e643-e646, Huddar, A.,et al, 2021



Showing articles 0 to 50 of 1431 Next >>