Literature DB >> 29850975

SEPN1-related Rigid Spine Muscular Dystrophy.

Arushi Gahlot Saini1, Hansashree Padmanabha2, Senthil Kumar1, Naveen Sankhyan1, Pratibha Singhi3,4.   

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Year:  2018        PMID： 29850975     DOI： 10.1007/s12098-018-2713-1

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  3 in total

1.  Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

Authors:  B Moghadaszadeh; N Petit; C Jaillard; M Brockington; S Quijano Roy; L Merlini; N Romero; B Estournet; I Desguerre; D Chaigne; F Muntoni; H Topaloglu; P Guicheney
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

2.  Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine.

Authors:  Stefanie Sponholz; Maja von der Hagen; Gabriele Hahn; Jens Seifert; Pascale Richard; Gisela Stoltenburg-Didinger; Ana Ferreiro; Angela M Kaindl
Journal:  J Child Neurol       Date:  2006-04       Impact factor: 1.987

3.  SEPN1-related myopathies: clinical course in a large cohort of patients.

Authors:  M Scoto; S Cirak; R Mein; L Feng; A Y Manzur; S Robb; A-M Childs; R M Quinlivan; H Roper; D H Jones; C Longman; G Chow; M Pane; M Main; M G Hanna; K Bushby; C Sewry; S Abbs; E Mercuri; F Muntoni
Journal:  Neurology       Date:  2011-06-14       Impact factor: 9.910
  3 in total
  2 in total

Review 1.  Thyroid Hormone Hyposensitivity: From Genotype to Phenotype and Back.

Authors:  Giuditta Rurale; Emery Di Cicco; Monica Dentice; Domenico Salvatore; Luca Persani; Federica Marelli; Cristina Luongo
Journal:  Front Endocrinol (Lausanne)       Date:  2020-01-24       Impact factor: 5.555

Review 2.  Genetic Disorders Associated with Metal Metabolism.

Authors:  Muhammad Umair; Majid Alfadhel
Journal:  Cells       Date:  2019-12-09       Impact factor: 6.600
  2 in total

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