Literature DB >> 10521314

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

K Grohmann, T F Wienker, K Saar, S Rudnik-Schöneborn, G Stoltenburg-Didinger, R Rossi, G Novelli, G Nürnberg, A Pfeufer, B Wirth, A Reis, K Zerres, C Hübner.   

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Year:  1999        PMID： 10521314      PMCID： PMC1288300          DOI： 10.1086/302636

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  9 in total

1.  The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Authors:  K Saar; K H Chrzanowska; M Stumm; M Jung; G Nürnberg; T F Wienker; E Seemanová; R D Wegner; A Reis; K Sperling
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

2.  Parametric and nonparametric linkage analysis: a unified multipoint approach.

Authors:  L Kruglyak; M J Daly; M P Reeve-Daly; E S Lander
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

3.  Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy.

Authors:  E Bertini; J L Gadisseux; G Palmieri; E Ricci; M Di Capua; G Ferriere; G Lyon
Journal:  Am J Med Genet       Date:  1989-07

4.  Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease.

Authors:  R B Mellins; A P Hays; A P Gold; W E Berdon; J D Bowdler
Journal:  Pediatrics       Date:  1974-01       Impact factor: 7.124

5.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

6.  Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

Authors:  S Rudnik-Schöneborn; R Forkert; E Hahnen; B Wirth; K Zerres
Journal:  Neuropediatrics       Date:  1996-02       Impact factor: 1.947

7.  A new mouse mutant with progressive motor neuronopathy.

Authors:  H Schmalbruch; H J Jensen; M Bjaerg; Z Kamieniecka; L Kurland
Journal:  J Neuropathol Exp Neurol       Date:  1991-05       Impact factor: 3.685

8.  The mouse mutation progressive motor neuronopathy (pmn) maps to chromosome 13.

Authors:  A L Brunialti; C Poirier; H Schmalbruch; J L Guénet
Journal:  Genomics       Date:  1995-09-01       Impact factor: 5.736

9.  Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.

Authors:  G Novelli; F Capon; L Tamisari; E Grandi; C Angelini; P Guerrini; B Dallapiccola
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318
  9 in total
  17 in total

1.  Selective vulnerability in neuronal populations in nmd/SMARD1 mice.

Authors:  Eric Villalón; Monir Shababi; Rachel Kline; Zachary C Lorson; Kyra M Florea; Christian L Lorson
Journal:  Hum Mol Genet       Date:  2018-02-15       Impact factor: 6.150

Review 2.  Unraveling the genetics of distal hereditary motor neuronopathies.

Authors:  Joy Irobi; Ines Dierick; Albena Jordanova; Kristl G Claeys; Peter De Jonghe; Vincent Timmerman
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

3.  Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd.

Authors:  Monir Shababi; Caley E Smith; Mona Kacher; Zayd Alrawi; Eric Villalón; Daniel Davis; Elizabeth C Bryda; Christian L Lorson
Journal:  Biochem Biophys Res Commun       Date:  2019-10-08       Impact factor: 3.575

4.  Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

Authors:  M McEntagart; N Norton; H Williams; M D Teare; M Dunstan; P Baker; H Houlden; M Reilly; N Wood; P S Harper; P A Futreal; N Williams; N Rahman
Journal:  Am J Hum Genet       Date:  2001-04-04       Impact factor: 11.025

5.  Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.

Authors:  Monir Shababi; Zhihua Feng; Eric Villalon; Christine M Sibigtroth; Erkan Y Osman; Madeline R Miller; Patricka A Williams-Simon; Abby Lombardi; Thalia H Sass; Arleigh K Atkinson; Michael L Garcia; Chien-Ping Ko; Christian L Lorson
Journal:  Mol Ther       Date:  2016-02-10       Impact factor: 11.454

6.  Muscle fiber-type selective propensity to pathology in the nmd mouse model of SMARD1.

Authors:  Eric Villalón; Naomi N Lee; Jose Marquez; Christian L Lorson
Journal:  Biochem Biophys Res Commun       Date:  2019-06-28       Impact factor: 3.575

7.  Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

Authors:  Ulf P Guenther; Markus Schuelke; Enrico Bertini; Adele D'Amico; Nathalie Goemans; Katja Grohmann; Christoph Hübner; Raymonda Varon
Journal:  Hum Genet       Date:  2004-09       Impact factor: 4.132

8.  Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy.

Authors:  Terry P Maddatu; Sean M Garvey; David G Schroeder; Thomas G Hampton; Gregory A Cox
Journal:  Hum Mol Genet       Date:  2004-04-06       Impact factor: 6.150

Review 9.  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

10.  Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.

Authors:  Beatriz San Millan; Jose M Fernandez; Carmen Navarro; Alfredo Reparaz; Susana Teijeira
Journal:  Clin Neuropathol       Date:  2016 Mar-Apr       Impact factor: 1.368
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