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
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,et al, 2024
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
A Man with Rapidly Progressive Weakness and Respiratory Failure
Neurol 91:e686-e691, Xu,D.,et al, 2018
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Clinicopathologic Conference, Chronic Meningoencephalitis Consistent with Rasmussens Encephalitis
NEJM 371:1737-1746, Case 34-2014, 2014
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
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
Rapidly Evolving Myopathy with Myosin-Deficient Muscle Fibers
Ann Neurol 35:273-279, 2571994., Al-Lozi,M.T.,et al, 1994
Clinicopath Conf
Motor Neuron Disease, Progressive-Muscular-Atrophy Type, Case 43-1992, NEJM 327:1298-130592., , 1992
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,et al, 2024
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
A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
A Case of Statin-Associated Autoimmune Myopathy
Clin Med Insights: Case Reports 10:1-4, Sweidan, A.J.,et al, 2017
Statin-Associated Autoimmune Myopathy
NEJM 374:664-669, Mammen, A.L., 2016
Rapidly Progressive Quadriplegia and Encephalopathy
JAMA Neurol 73:1363-1366, Wynn, D.,et al, 2016
A 44-year-old Woman with Rapidly Progressive Weakness and Ophthalmoplegia
Neurol 85:e22-e27, Schreck, K.C.,et al, 2015
Clinicopathologic Conference, Dermatomyositis. Malignant Atrophic Papulosis (Degoss Disease), Involving the Skin and Gastrointestinal Tract
NEJM 370:2327-2337, Case 18-2014, 2014
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,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, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
Progressive Weakness with Respiratory Failure in a Patient with Sarcoidosis
Arch Neurol 69:534-537, Chaudhry,P.,et al, 2012
Guillain-Barre Syndrome
NEJM 366:2294-2304, Yuki, N. & Hartung, H.P., 2012
A 16-Year-Old Girl With Progressive Weakness of the Left Leg
Neurol 69:84-90, Hahn,A.F.,et al, 2007
Clinicopath Conf., Chronic Inflammatory Demyelinating Polyneuropathy
NEJM 348:735-743, Case 6-2003, 2003
Lacunar Stroke Is the Major Cause of Progressive Motor Deficits
Stroke 33:1510-1516,1443, Steinke,W. &Ley,S.C., 2002
Disease Progression in Sporadic Inclusion Body Myositis: Observations in 78 Patients
Neurol 55:296-198, Peng,A. et al, 2000
Multifocal Motor Neuropathy
JNNP 60:599-603, Nobile-Orazio,E., 1996
Subacute Idiopathic Demyelinating Polyradiculoneuropathy
Arch Neurol 49:612-616, Hughes,R.,et al, 1992
Clinicopath Conf
Hodgkin's Disease and Guillain Barre Syndrome, Case Record 39-1990, NEJM 323:895-908990., , 1990
Inclusion Body Myositis, Observations in 40 Patients
Brain 112:727-747, Lotz,B.P.,et al, 1989
Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
McGraw-Hill Book Co, NY, p1251986., Munsat,T.L., 1986
Neurologic Manifestations in Macroglobulinemia
In Vinken PJ, Bruyn GW, Eds, Handbook of Clin Neurol, Vol 39, North-Holland Publ Co, p. 189, Abramsky,O., 1980
A 19-Year-Old Woman with Progressive Weakness and Numbness in Her Arms and Legs
Neurol 104:e213495, Alsabah,A-A.,et al, 2025
A 60-Year Old Man with Asymmetric Weakness and Persistent Fever
Neurol 100:530-536, Zheng,Y.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
A Young Woman with Rapidly Progressive Weakness and Paresthesia
Neurol 101:676-681, Alwakeel,S.S.,et al, 2023
A 36-Year-Old Man With Asymmetric Muscle Weakness
Neurol 99"1057-1061, Harada,Y.,et al, 2022
Miller Fisher Syndrome and Acute Motor and Sensory Axonal Neuropathy (AMSAN) Variant Guillain-Barre Overlap Syndrome (MFS/AMSAN-GBS) After Upper Respiratory Tract Infection (URTI)
Acta Sci Clin Case Reports 3:19-24, Chau,T.C. & Muhamad,N.A.N., 2022
Clinicopathologic Conference, Disseminated Mycobacterium Bovis Infection
NEJM 384:651-662, Case 5-2021, 2021