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Filter Applied: myotonia dystrophica (Click to remove)

Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022

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

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

Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996

The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993

Treatment of Myotonia
Editorial, Lancet 1:1242-12441987., , 1987

Abnormalities of Eyelid Closure
In Walsh & Hoyt's Clinical Neuro-ophthalmology, Williams & Wilkins, Baltimore, 2:967, Miller,M.R., 1985

Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973

Cancer Risk in Patients with Muscular Dystrophy and Myotonic Dystrophy
Neurol 103:e209883, Maya-Gonzalez,C.,et al, 2024

Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018

Brain Imaging in Myotonic Dystrophy Type 1
Neurol 89:960-969, Okkersen, K.,et al, 2017

Electrophysiological Study with Prophylactic Pacing and Survival in Adults with Myotonic Dystrophy and Conduction System Disease
JAMA 307:1292-1301, Wahbi,K.,et al, 2012

Cancer Risk Among Patients with Myotonic Muscular Dystrophy
JAMA 306:2480-2486, Gadalla, S.M.,et al, 2011

Mexiletine Is an Effective Antimyotonia Treatment in Myotonic Dystrophy Type 1
Neurol 74:1441-1448, Logigian,E.L., et al, 2010

Electrocardiographic Abnormalities and Sudden Death in Myotonic Dystrophy Type 1
NEJM 358:2688-2697, Groh,W.J.,et al, 2008

Severe Cardiac Arrhythmias in Young Patients with Myotonic Dystrophy Type 1
Neurol 63:1939-1941, Bassez,G.,et al, 2004

Sudden Cardiac Death in Myotonic Dystrophy Type 2
Neurol 63:2402-2404, Schoser,B.G.H.,et al, 2004

Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003

Modafinil Reduces Excessive Somnolence and Enhances Mood in Patients With Myotonic Dystrophy
Neurol 59:1876-1880, MacDonald,J.E.,et al, 2002

New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000

Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000

A 10-Year Study of Mortality in a Cohort of Patients with Myotonic Dystrophy
Neurol 52:1658-1662, Mathieu,J.,et al, 1999

Proton Spectroscopy in Myotonic Dystrophy, Correlations with CTG Repeats
Arch Neurol 55:305-311, 2911998., Chang,L.,et al, 1998

Myotonic Dystrophy, The Role of Large Triplet Repeat Length in the Develop of Mental Retardation
Arch Neurol 54:251-254, Spranger,M.,et al, 1997

Anesthetic and Surgical Complictions in 219 Cases of Myotonic Dystrophy
Neurol 49:1646-1650, Mathieu,J.,et al, 1997

Pure Motor Hand Weakness
Semin Neurol 16:75-81, Lewis,R.A., 1996

Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995

Cardiac Involvement in a Large Kindred with Myotonic Dystrophy:Quant Assess & Relation to Size of CTG Repeat Expansion
JAMA 274:813-819, Tokgozoglu,L.S.,et al, 1995

Proximal Myotonic Myopathy Syndrome in the Absence of Trinucleotide Repeat Expansions
Muscle & Nerve 18:782-783995., Stoll,G.,et al, 1995

Myotonic Dystrophy with No Trinucleotide Repeat Expansion
Neurol 35:269-272, 2551994., Thornton,C.A.,et al, 1994

Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993

Brief Report:Reverse Mutation in Myotonic Dystrophy
NEJM 328:476-480, Brunner,H.G.,et al, 1993

Genetics and Physiology of the Myotonic Muscle Disorders
NEJM 328:482-489, Ptacek,L.J.,et al, 1993

Cerebral Abnormalities in Myotonic Dystrophy
Arch Neurol 50:917-923, Chang,L.,et al, 1993

Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993

The Heart in Myotonic Dystrophy
Editorial, Lancet 339:528-5291992., , 1992

Oculomotor, Auditory, and Vestib ular Responses in Myotonic Dystrophy
Arch Neurol 49:954-960, Verhagen,W.I.M.,et al, 1992

Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992

Phenotypic Expression of the Myotonic Dystrophy Gene in Monozygotic Twins
Neurol 42:1815-1817, Dubel,J.R.,et al, 1992

Myotonic Heart Disease:A Clinical Follow-Up
Neurol 41:259-262, Hawley,R.J.,et al, 1991

Ventricular Late Potentials in Myotonic Dystrophy
Ann Int Med 115:607-613, Milner,M.R.,et al, 1991

Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
Neurol 40:671-676, Speer,M.C.,et al, 1990

Criteria for Establishing the Validity of Genetic Recombination in Myotonic Dystrophy
Neurol 39:420-421, Griggs,R.C.,et al, 1989

Magnetic Resonance Imaging and Clinical Correlates of Intellectual Impairment in Myotonic Dystrophy
Arch Neurol 46:536-540, Huber,S.J.,et al, 1989

Hearing Loss in Myotonic Dystrophy
Ann Neurol 23:202-203, Wright,R.B.,et al, 1988

Central Nervous System Magnetic Resonance Imaging Findings in Myotonic Dystrophy
Arch Neurol 45:36-37, Glantz,R.H.,et al, 1988

Peripheral Neuropathy in Myotonic Dystrophy:A Nerve Biopsy Study
Ann Neurol 23:470-476, Cros,D.,et al, 1988



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