Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
Neurol 79: e70-e72, Zhong, L.,et al, 2012
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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Myotonic Dystrophy
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The Nondystrophic Myotonias
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Autosomal Dominant Cramping Disease
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990
Peripheral Neuropathy in Amyotrophic Chorea-Acanthocytosis
Ann Neurol 26:583-587, Vista,G.,et al, 1989
McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988
Familial Recurrent Bell's Palsy with Ocular Motor Palsies
Neurol 37:1369-1371, Aldrich,M.S.,et al, 1987
Phosphorylase Deficiency
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Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
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Chronic Progressive External Ophthalmoplegia (CPEO) :Clinical, Morphologic, & Biochemical Studies
Neurol 33:452-461, Mitsumoto,H.,et al, 1983
Evoked Response Studies in Patients with Adreno-leukodystrophy & Heterozygous Relatives
Arch Neurol 40:356-359, Garg,B.P.,et al, 1983
Detection Of Adrenoleucodystrophy Carriers By Means Of Evoked Potentials
Lancet 2:852-853, Moloney,J.B.,et al, 1982
Benign Familial Spinal Muscular Atrophy With Hypertrophy of the Calves
Arch Neurol 39:657-660, D'Alessandro,R.,et al, 1982
Juvenile Metachromatic Leukodystrophy
Arch Neurol 37:42-46, Haltia,T.,et al, 1980
Quadriceps Myopathy in Two Brothers
Rhode Island Med J 62:125, Finelli,P.F., 1979
Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Neurol 29:880-881, Kuritzky,A.,et al, 1979
Late Adult-onset Metachromatic Leukodystrophy
Arch Neurol 35:475, Bosch,E.P., 1978
Obstructive Sleep Apnea in Family Members
NEJM 299:969-973, Strohl,K.P.,et al, 1978
Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978
Peripheral Neuropathy in Myotonic Dystrophy
Arch Neurol 35:741-745, Olson,N.D.,et al, 1978
Familial Spasmodic Torticollis
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Hereditary Quadriceps Myopathy
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