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Auteur Sharma MC |
Documents disponibles écrits par cet auteur



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Pompe disease: An Indian series diagnosed on muscle biopsy by ultrastructural characterization
Kakkar A, Sharma MC, Nambirajan A, et al.
Ultrastructural pathology, 2018
Revue : Ultrastructural pathology Titre : Pompe disease: An Indian series diagnosed on muscle biopsy by ultrastructural characterization Type de document : Article Auteurs : Kakkar A, Auteur ; Sharma MC ; Nambirajan A ; Gulati S ; Bhatia R ; Suri V ; Sarkar C Année de publication : 22/03/2018 Langues : Anglais (eng) Mots-clés : examen clinique ; glycogène ; glycogénose musculaire ; histopathologie musculaire ; Inde ; maladie de Pompe ; maladie de Pompe à début précoce ; maladie de Pompe à début tardif ; microscopie électronique ; muscle squelettique ; ultrastructure musculaire Pubmed / DOI : DOI : 10.1080/01913123.2018.1447624 / Pubmed : 29565761
N° Profil MNM : 2018032 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29565761 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study
Chakrabarty B, Sharma MC, Gulati S, et al.
Journal of child neurology, 2017, 32, 14, p 1099
Revue : Journal of child neurology, 32, 14 Titre : Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study Type de document : Article Auteurs : Chakrabarty B, Auteur ; Sharma MC ; Gulati S ; Sarkar C Année de publication : 2017 Pages : p 1099 Langues : Anglais (eng) Mots-clés : biopsie cutanée ; collagène VI (maladie neuromusculaire liée à) ; dystrophie musculaire congénitale de type Ullrich ; étude observationnelle ; histopathologie musculaire ; procédé diagnostique Pubmed / DOI : DOI : 10.1177/0883073817738466 / Pubmed : 29129153
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29129153 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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A case of congenital myopathy masquerading as paroxysmal dyskinesia
Patel H, Chakrabarty B, Gulati S, et al.
Annals of Indian academy of neurology, 2014, 17, 4, p 441
Revue : Annals of Indian academy of neurology, 17, 4 Titre : A case of congenital myopathy masquerading as paroxysmal dyskinesia Type de document : Article Auteurs : Patel H ; Chakrabarty B ; Gulati S ; Sharma MC ; Saini L Année de publication : 2014 Pages : p 441 Langues : Anglais (eng) Mots-clés : dyskinésie ; étude de cas ; myopathie congénitale ; reflux gastrooesophagien Pubmed / DOI : DOI : 10.4103/0972-2327.144034 / Pubmed : 25506169
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/25506169 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Skin Biopsy: A New Tool to Diagnose Sarcoglycanopathy
Chakrabarty B, Sharma MC, Gulati S, et al.
Journal of child neurology, 2014, 29, 8, p. NP5-NP8
Revue : Journal of child neurology, 29, 8 Titre : Skin Biopsy: A New Tool to Diagnose Sarcoglycanopathy Type de document : Article Auteurs : Chakrabarty B ; Sharma MC ; Gulati S ; Kabra M ; Pandey RM ; Sarkar C Année de publication : 2014 Pages : p. NP5-NP8 Langues : Anglais (eng) Mots-clés : muscle orbiculaire de l'oeil Résumé :
Accès au résumé Pubmed/to pubmed abstractPubmed / DOI : DOI : 10.1177/0883073813488662 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Congenital myopathies : a clinico pathological study of 43cases
Gulati S, Sharma MC, Yoganathan S, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 60
Titre : Congenital myopathies : a clinico pathological study of 43cases Type de document : Article Auteurs : Sharma MC ; Yoganathan S ; Sarkar C Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) Année de publication : 2011 Pages : p. 60 Langues : Anglais (eng) Mots-clés : colloque Résumé : Background: Congenital myopathies are a group of neuromuscular disorders, mostly occurring in childhood, chiefly in a familial fashion but occasionally occur in sporadic fashion. Through this paper, the authors present a clinicopathological analysis of 43cases. The information on congenital myopathy from India is limited. In a large series from Japan, 597 cases were diagnosed over a period of 28 years. Materials & methods: The clinical data of patients who were diagnosed with congenital myopathy during 2001 -2010 was retrieved. Muscle biopsies were processed for H&E staining, enzyme histochemistry, and immunochemistry. Biopsies were also processed for ultrastructural analysis wherever required. Results: Nemaline rod myopathy, central core disease, multi-mini core disease (9 each) were most common followed by congenital fibre type disproportion myopathy(7), desmin related myopathies(2), centronuclear myopathy(3) and unclassified(4).Clinically, they had variable features and final diagnosis was made with help of enzyme histochemistry and ultrastructural features. Despite their genetic heterogeneity, clinical features have some characteristics in common. Main symptoms were generalized muscle weakness and hypotonia, typically presenting at birth or infancy. The clinical severity was variable from mild motor CONGENITAL MYOPATHIES 61 weakness to a severe form characterize by marked hypotonia at birth. Muscle weakness onset in this series was variable from birth to adolescence. Cardiac ivolvement was rare and intelligence was usually normal. Clinically,the next immediate differential diagnosis kept in most cases were spinal muscular atrophy and congenital muscular dystrophy. Serum creatine kinase level was normal in most cases or mildly elevated and EMG showed myopathic pattern. Conclusion: This study emphazises the need of enzyme histochemistry and electron microscopic examination in the diagnosis of congenital myopathies . Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Limb girdle muscular dystrophy type 2A in india : a clinicopathological study
Sharma MC, Pathak P, Kaushal S, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 115-116
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Screening of calpain-3 gene mutation in patients with limb girdle muscular dystrophy in north india
Pathak P, Sharma MC, Jha P, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (in) (9-13 mai 2011; Lille (France))
2011, p. 118
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Diagnostic utility of skin biopsy in dystrophinopathies
Tanveer N, Sharma MC, Sarkar C, et al.
Clinical neurology and neurosurgery, 2009, 111, 6, p. 496-502
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Congenital myopathies - a comprehensive update of recent advancements
Sharma MC, Jain D, Sarkar C, et al.
Acta neurologica Scandinavica, 2009, 119, 5, p. 281-292
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Tubular aggregate myopathy : a rare form of myopathy
Jain D, Sharma MC, Sarkar C, et al.
Journal of clinical neuroscience, 2008, 15, p. 1224-1228
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MRI versus ultrasound or clinical methods for selection of site for muscle biopsy in inflammatory myopathies - a randomised blinded trial
Singh S, Aurangabadkar K, Goyal V, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 372
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Major histocompatibility complex class I and II detection as a diagnostic tool in idiopathic inflammatory myopathies
Jain A, Sharma MC, Sarkar C, et al.
Archives of pathology and laboratory medicine, 2007, 131, 7, p. 1070-1076
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Delayed or late-onset type II glycogenosis with globular inclusions
Sharma MC, Schultze C, von Moers A, et al.
Acta neuropathologica, 2005, 110, 2, p. 151-157
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Desmin-related myopathy : report of a rare case
Sridhar E, Sharma MC, Sarkar B, et al.
Neurology India, 2005, 53, 2, p. 229-231
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Central core disease
Gulati S, Salhotra A, Sharma MC, et al.
Indian journal of pediatrics, 2004, 71, 11, p. 1021-1024
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Congenital fiber type disproportion : A rare type of congenital myopathy : A report of four cases
Sharma MC, Ralte AM, Atri SK, et al.
Neurology India, 2004, 52, 2, p. 254-256
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Gamma-Sarcoglycanopathy
Gulati S, Leekha S, Sharma MC, et al.
Indian pediatrics, 2003, 40, 11, p. 1077-1081
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Congenital myopathies : a clinicopathological study of 25 cases
Jain D, Sharma MC, Sarkar C, et al.
Indian journal of pathology and microbiology, 10-12/2008, 51, 4, p. 474-480
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Multi-minicore disease : a rare form of myopathy
Sharma MC, Gulati S, Sarkar C, et al.
Neurology India, 01-03/2007, 55, 1, p. 50-53
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Nemaline rod myopathy : a rare form of myopathy
Sharma MC, Gulati S, Atri SK, et al.
Neurology India, 01-03/2007, 55, 1, p. 70-74
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Limb girdle muscular dystrophy type 2A in India : a study based on semi-quantitative protein analysis, with clinical and histopathological correlation
Pathak P, Sharma MC, Sarkar C, et al.
Neurology India, 07-08/2010, 58, 4, p. 549-555
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