Literature DB >> 9556377

Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis.

C Hayward, D J Brock, R A Minns, R J Swingler.   

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Year:  1998        PMID： 9556377      PMCID： PMC1051232          DOI： 10.1136/jmg.35.2.174

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients.

Authors:  P M Andersen; L Forsgren; M Binzer; P Nilsson; V Ala-Hurula; M L Keränen; L Bergmark; A Saarinen; T Haltia; I Tarvainen; E Kinnunen; B Udd; S L Marklund
Journal:  Brain       Date:  1996-08       Impact factor: 13.501

Review 2.  Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features.

Authors:  A Radunovíc; P N Leigh
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-12       Impact factor: 10.154

3.  D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.

Authors:  W Robberecht; T Aguirre; L Van den Bosch; P Tilkin; J J Cassiman; G Matthijs
Journal:  Neurology       Date:  1996-11       Impact factor: 9.910

4.  The SWISS-PROT protein sequence data bank and its new supplement TREMBL.

Authors:  A Bairoch; R Apweiler
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

5.  Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.

Authors:  P M Andersen; P Nilsson; V Ala-Hurula; M L Keränen; I Tarvainen; T Haltia; L Nilsson; M Binzer; L Forsgren; S L Marklund
Journal:  Nat Genet       Date:  1995-05       Impact factor: 38.330
  5 in total
  17 in total

Review 1.  Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Authors:  Peter M Andersen; Ammar Al-Chalabi
Journal:  Nat Rev Neurol       Date:  2011-10-11       Impact factor: 42.937

2.  The distinct genetic pattern of ALS in Turkey and novel mutations.

Authors:  Aslıhan Özoğuz; Özgün Uyan; Güneş Birdal; Ceren Iskender; Ece Kartal; Suna Lahut; Özgür Ömür; Zeynep Sena Agim; Aslı Gündoğdu Eken; Nesli Ece Sen; Pınar Kavak; Ceren Saygı; Peter C Sapp; Pamela Keagle; Yeşim Parman; Ersin Tan; Filiz Koç; Feza Deymeer; Piraye Oflazer; Haşmet Hanağası; Hakan Gürvit; Başar Bilgiç; Hacer Durmuş; Mustafa Ertaş; Dilcan Kotan; Mehmet Ali Akalın; Halil Güllüoğlu; Mehmet Zarifoğlu; Fikret Aysal; Nilgün Döşoğlu; Kaya Bilguvar; Murat Günel; Özlem Keskin; Tahsin Akgün; Hilmi Özçelik; John E Landers; Robert H Brown; A Nazlı Başak
Journal:  Neurobiol Aging       Date:  2015-01-10       Impact factor: 4.673

3.  Amyotrophic lateral sclerosis: update and new developments.

Authors:  Ashley J Pratt; Elizabeth D Getzoff; J Jefferson P Perry
Journal:  Degener Neurol Neuromuscul Dis       Date:  2012-02

Review 4.  Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia.

Authors:  Faisal Fecto; Teepu Siddique
Journal:  J Mol Neurosci       Date:  2011-09-07       Impact factor: 3.444

Review 5.  Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.

Authors:  Sai V Seetharaman; Mercedes Prudencio; Celeste Karch; Stephen P Holloway; David R Borchelt; P John Hart
Journal:  Exp Biol Med (Maywood)       Date:  2009-07-13

Review 6.  Approaches to Gene Modulation Therapy for ALS.

Authors:  Katharina E Meijboom; Robert H Brown
Journal:  Neurotherapeutics       Date:  2022-09-06       Impact factor: 6.088

7.  Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis.

Authors:  Tomoyuki Awano; Gary S Johnson; Claire M Wade; Martin L Katz; Gayle C Johnson; Jeremy F Taylor; Michele Perloski; Tara Biagi; Izabella Baranowska; Sam Long; Philip A March; Natasha J Olby; G Diane Shelton; Shahnawaz Khan; Dennis P O'Brien; Kerstin Lindblad-Toh; Joan R Coates
Journal:  Proc Natl Acad Sci U S A       Date:  2009-02-02       Impact factor: 11.205

Review 8.  Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene.

Authors:  Peter M Andersen
Journal:  Curr Neurol Neurosci Rep       Date:  2006-01       Impact factor: 5.081

9.  An examination of wild-type SOD1 in modulating the toxicity and aggregation of ALS-associated mutant SOD1.

Authors:  Mercedes Prudencio; Armando Durazo; Julian P Whitelegge; David R Borchelt
Journal:  Hum Mol Genet       Date:  2010-09-24       Impact factor: 6.150

10.  Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.

Authors:  Mercedes Prudencio; P John Hart; David R Borchelt; Peter M Andersen
Journal:  Hum Mol Genet       Date:  2009-05-30       Impact factor: 6.150
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