Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

نتائج البحث

Display Settings
النتائج لكل صفحة: 10
Sort By: Relevance
Filter
  • 1-10 ل  114 نتائج ل ""NEMALINE myopathy""

فلترة النتائج

Subject : medicine.anatomical_structure
إعادة تعيين خيارات الفبترة
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Subjects: Sarcomeres; 0301 basic medicine; Heterozygote

  • Source: Nature Communications, Vol 11, Iss 1, Pp 1-17 (2020)Nature Communications, 11(1):2699. Nature Publishing Group UKLindqvist, J, Ma, W, Li, F, Hernandez, Y, Kolb, J, Kiss, B, Tonino, P, van

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×

Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores

Subjects: Adult; Male; Sarcomeres

  • Source: Garibaldi, M, Fattori, F, Pennisi, E M, Merlonghi, G, Fionda, L, Vanoli, F, Leonardi, L, Bucci, E, Morino, S, Micaloni, A, Tartaglione, T, Uijterwijk, B, Zierikzee, M, Ottenheijm, C, Bertini, E S,

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

Subjects: 0301 basic medicine; Pathology; medicine.medical_specialty

  • Source: Journal of Medical GeneticsJournal of Medical Genetics, BMJ Publishing Group, 2020, ⟨10.1136/jmedgenet-2019-106714⟩Journal of Medical Genetics, 2020,

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×

The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy

Subjects: 0301 basic medicine; medicine.medical_specialty; Myofilament

  • Source: J Physiol

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×

Inflammatory features in sporadic late‐onset nemaline myopathy are independent from monoclonal gammopathy

Subjects: Male; 0301 basic medicine; Pathology

  • Source: Brain Pathology

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

Subjects: NM, nemaline myopathy; Pathology; medicine.medical_specialty

  • Source: eNeurologicalScieNeurologicalSci, Vol 21, Iss, Pp 100268-(2020)

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×

Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice

Subjects: AcademicSubjects/SCI01140; Inotrope; medicine.medical_specialty

  • Source: Human Molecular GeneticsHuman Molecular Genetics, 2021, 30 (14), pp.1305-1320. ⟨10.1093/hmg/ddab112⟩Human Molecular Genetics, Oxford University Press (OUP), 2021,

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene

Subjects: Male; 0301 basic medicine; Pathology

  • Source: Neuromuscular Disorders. 28:323-326

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Subjects: 0301 basic medicine; MESH: Mutation; QH301-705.5

  • Source: Stem Cell ResearchStem Cell Research, Elsevier, 2021, 53, pp.102273. ⟨10.1016/j.scr.2021.102273⟩Stem Cell Research, 2021, 53, pp.102273. ⟨10.1016/j.scr.2021.102273⟩Stem Cell

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×

Clinical and Histologic Findings in ACTA1 -Related Nemaline Myopathy: Case Series and Review of the Literature

Subjects: Male; 0301 basic medicine; Pathology

  • Source: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)Universidade de São Paulo (USP)instacron:USP

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
  • 1-10 ل  114 نتائج ل ""NEMALINE myopathy""