Literature DB >> 15287252

'Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)'.

Richard E Appleton, Christoph Hübner, Katja Grohmann, Raymonda Varon.   

Abstract

Entities:  

Mesh：

Year:  2004        PMID： 15287252     DOI： 10.1017/s0012162204000970

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


× No keyword cloud information.
  5 in total

1.  Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.

Authors:  Tyler Mark Pierson; Gary Tart; David Adams; Camilo Toro; Gretchen Golas; Cynthia Tifft; William Gahl
Journal:  Neuromuscul Disord       Date:  2011-02-25       Impact factor: 4.296

Review 2.  Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.

Authors:  Alberto Giannini; Anna Maria Pinto; Giordano Rossetti; Edi Prandi; Danilo Tiziano; Christina Brahe; Nardo Nardocci
Journal:  Intensive Care Med       Date:  2006-09-09       Impact factor: 17.440

3.  Clinical diversity caused by novel IGHMBP2 variants.

Authors:  Jun-Hui Yuan; Akihiro Hashiguchi; Akiko Yoshimura; Hiroshi Yaguchi; Koji Tsuzaki; Azusa Ikeda; Kenji Wada-Isoe; Masahiro Ando; Tomonori Nakamura; Yujiro Higuchi; Yu Hiramatsu; Yuji Okamoto; Hiroshi Takashima
Journal:  J Hum Genet       Date:  2017-03-09       Impact factor: 3.172

Review 4.  Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.

Authors:  Fiammetta Vanoli; Paola Rinchetti; Francesca Porro; Valeria Parente; Stefania Corti
Journal:  J Cell Mol Med       Date:  2015-06-20       Impact factor: 5.310

5.  Early Infantile Onset Non-5q Spinal Muscular Atrophies: A Diagnostic Odyssey.

Authors:  Renu Suthar; Chandana Bhagwat; Pradip Paria; Divya Aggarwal; Namita Ravi Kumar; Debajyoti Chatterjee; Arushi G Saini; Suresh Kumar Angurana; Naveen Sankhyan
Journal:  Ann Indian Acad Neurol       Date:  2021-02-10       Impact factor: 1.383
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.