Search Results - "Bertorini, Tulio E"

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy by Punetha, Jaya, Mansoor, Simin, Bertorini, Tulio E, Kesari, Akanchha, Brown, Kristy J, Hoffman, Eric P

“…We describe a case of hemi-atrophy in a young adult male, with a positive family history of three maternal uncles with Duchenne muscular dystrophy (DMD). The…”
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Neurologic complications of disorders of the adrenal glands by Bertorini, Tulio E, Perez, Angel

“…Disorders of the adrenal glands frequently have secondary neurological manifestations, while some diseases that involve the central nervous system are…”
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Neuromuscular Case Studies by Bertorini, Tulio E

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Neuromuscular Disorders: Treatment and Management by Bertorini, Tulio E

“…Offering an authoritative, multidisciplinary approach to the complex issues associated with neuromuscular disease, Neuromuscular Disorders, 2nd Edition,…”
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Diffusely Increased Insertional Activity: “EMG Disease” or Asymptomatic Myotonia Congenita? A Report of 2 Cases by Mitchell, Christopher W., MD, Bertorini, Tulio E., MD

“…Abstract Mitchell CW, Bertorini TE. Diffusely increased insertional activity: “EMG disease” or asymptomatic myotonia congenita? A report of 2 cases. The term…”
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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy by Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M, Hoffman, Eric P, Koeks, Zaida, Eka Suchiman, H, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A C, Niks, Erik H, Tuffery-Giraud, Sylvie, Lochmüller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke

“…Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability in the disease course…”
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An Overview of Laryngeal Muscle Single Fiber Electromyography by Bertorini, Tulio E, Sharaf, Aboubakar G

“…Needle electromyography is an important tool in the diagnosis of neuromuscular diseases and has also been applied successfully in the evaluation of the vocal…”
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A Case of Triple-Negative Myasthenia Gravis Lambert-Eaton Overlap Syndrome With Negative Agrin and LRP-4 Antibodies by Maturana, Miguel A, Bertorini, Tulio E, Mei, Lin, Pandhi, Abhi, Mays, William H

“…ABSTRACTA case of triple-negative myasthenia gravis Lambert-Eaton overlap syndrome with negative Agrin and LRP-4 antibodies. Myasthenia gravis (MG) is an…”
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Hereditary inclusion‐body myopathy associated with cardiomyopathy: Report of two siblings by Chai, Yaohui, Bertorini, Tulio E., McGrew, Frank A.

“…Hereditary inclusion‐body myopathy (HIBM) or distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive disorder characterized by preferential…”
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An Adult Male With Progressive Spastic Paraparesis and Gait Instability by Ly, Helen, Bertorini, Tulio E, Shah, Namrata

“…ABSTRACTThis is a case of an adult male with history of motor difficulties, speech, and behavioral problems since early childhood found to have progressive…”
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Limb edema and anasarca associated with severe dermatomyositis: Report of four cases by Chai, Yaohui, Bertorini, Tulio E, Li, Yingjun D, Mitchell, Christopher, Guan, Hongzhi

“…Abstract Dermatomyositis is an autoimmune disorder that causes proximal muscle weakness and skin changes which include generalized erythema, heliotrope rash…”
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A Male With Progressive Lower Extremity Weakness and Monoclonal Gammopathy by Mansoor, Simin, Bertorini, Tulio E

“…EDUCATIONAL OBJECTIVES:To discuss a case of progressive lower extremity paresis and paresthesias in a patient found to have monoclonal gammopathy. KEY…”
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Dr. Aníbal Zambrano: un médico peruano con corazón de oro by Ponce-Rosas, Linda, Gonzales-Zamora, José, Bertorini, Tulio E.

“…El objetivo del artículo es describir y analizar la trayectoria de vida y las contribuciones humanitarias del Dr. Zambrano, médico egresado de la Escuela de…”
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Neuromuscular Complications in Uremics: A Review by Al-Hayk, Kefah, Bertorini, Tulio E.

“…BACKGROUND:Uremia may be associated with various neurologic manifestations, particularly a polyneuropathy, but also with focal neuropathies such as carpal…”
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Long-Term Tracheostomy Ventilation in Neuromuscular Diseases: Patient Acceptance and Quality of Life by Narayanaswami, Pushpa, Bertorini, Tulio E., Pourmand, Rahman, Horner, Linda H.

“…Domiciliary assisted ventilation has been used to prolong life in patients with neuromuscular diseases. Although earlier studies suggest that the majority of…”
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Comparative Long-Term Evaluation of Patients With Juvenile Inflammatory Myopathies by Elahi, Hafiz A, Bertorini, Tulio E, Igarashi, Masanori, Mays, William H, Whitaker, John N

“…OBJECTIVES:We conducted a retrospective study analyzing the clinical features, laboratory findings, demographics, and long-term prognoses of patients with…”
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Transient Neonatal Myasthenia Gravis in a Baby Born to a Mother With New-Onset Anti-MuSK-Mediated Myasthenia Gravis by OʼCarroll, Peter, Bertorini, Tulio E, Jacob, Glady, Mitchell, Christopher W, Graff, Justin

“…We describe a 30-year-old pregnant woman with undiagnosed weakness who delivered a severely weak neonate. Subsequent workup of the mother revealed myasthenia…”
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Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases by Punetha, Jaya, Kesari, Akanchha, Uapinyoying, Prech, Giri, Mamta, Clarke, Nigel F, Waddell, Leigh B, North, Kathryn N, Ghaoui, Roula, O'Grady, Gina L, Oates, Emily C, Sandaradura, Sarah A, Bönnemann, Carsten G, Donkervoort, Sandra, Plotz, Paul H, Smith, Edward C, Tesi-Rocha, Carolina, Bertorini, Tulio E, Tarnopolsky, Mark A, Reitter, Bernd, Hausmanowa-Petrusewicz, Irena, Hoffman, Eric P

“…Molecular diagnostics in the genetic myopathies often requires testing of the largest and most complex transcript units in the human genome (DMD, TTN, NEB)…”
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A Female With Progressive Four-Limb Paresthesias and Gait Difficulty by Chai, Yaohui, Bertorini, Tulio E

“…EDUCATIONAL OBJECTIVES:To discuss a case of progressive four-limb paresthesias and gait difficulty in a female who had previously undergone gastric bypass…”
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La Neuropatía Diabética. Consideraciones clínicas y Neuropatológicas by Tulio E. Bertorini, Daniel Jácome R.

“…Fragmento La Diabetes Mellitus es una enfermedad muy común; así por ejemplo se considera que en los Estados Unidos existen 3 millones de personas que la…”
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