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  14 نتائج ل ""Myasthenic syndrome""

فلترة النتائج

Collection : Inserm
إعادة تعيين خيارات الفبترة
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Report

First characterization of congenital myasthenic syndrome type 5 in North Africa

Subjects: COLQ; Congenital myasthenic syndromes-5; Next-generation sequencing

  • Source: https://amu.hal.science/hal-03662463 ; 2024.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

  • Source: ISSN: 2045-2322.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Large granular lymphocytic leukemia associated with Lambert-Eaton Myasthenic Syndrome: A case report.

Subjects: Large granular lymphocytic leukemia; LGL leukemia; Lambert-Eaton Myasthenic Syndrome

  • Source: ISSN: 2213-0489 ; Leukemia Research Reports ; https://univ-rennes.hal.science/hal-00974560 ; Leukemia Research Reports, 2013, 2 (1), pp.32-33. ⟨10.1016/j.lrr.2013.02.004⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 1876-7753 ; Stem Cell Research ; https://hal.sorbonne-universite.fr/hal-03146055 ; Stem Cell Research, 2020, 49, pp.102106. ⟨10.1016/j.scr.2020.102106⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome

Subjects: channels; myasthenia; neuromuscular

  • Source: ISSN: 0022-3050.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Dissertation/ Thesis

MuSK cystein rich domain in autoimmune myasthenic syndrome ; Le domaine riche en cystéine de MuSK dans la myasthénie auto-immune

Subjects: Neuromuscular junction; MuSK; Myasthenia Gravis

  • Source: https://theses.hal.science/tel-04137804 ; Biologie cellulaire. Sorbonne Université, 2023. Français. ⟨NNT : 2023SORUS093⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

A recessive Na v 1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

Subjects: [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

  • Source: ISSN: 0028-3878.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Multiexon deletions account for 15% of Congenital Myasthenic Syndrome with RAPSN mutations after negative DNA Sequencing

Subjects: Molecular genetics; Neurology; Neuromuscular disease

  • Source: ISSN: 0022-2593.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine

Subjects: Non-dystrophic myotonia; periodic paralysis; congenital myopathy

  • Source: ISSN: 2214-3599.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
Academic Journal

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

Subjects: congenital myasthenic syndrome (CMS); congenital myopathy (CM); loss of function

  • Source: ISSN: 1663-9812 ; Frontiers in Pharmacology ; https://hal.science/hal-03406031 ; Frontiers in Pharmacology, 2021, 12, pp.751095. ⟨10.3389/fphar.2021.751095⟩.

تفاصيل العنوان

اقرأ أكثر حفظ في قائمتي
×
  • 1-10 ل  14 نتائج ل ""Myasthenic syndrome""