Literature DB >> 9150176

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

S I Bidichandani, T Ashizawa, P I Patel.   

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Year:  1997        PMID： 9150176      PMCID： PMC1712428     

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


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  12 in total

1.  The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase.

Authors:  J J Carvajal; M A Pook; M dos Santos; K Doudney; R Hillermann; S Minogue; R Williamson; J J Hsuan; S Chamberlain
Journal:  Nat Genet       Date:  1996-10       Impact factor: 38.330

2.  Glucose metabolism alterations in Friedreich's ataxia.

Authors:  G Finocchiaro; G Baio; P Micossi; G Pozza; S di Donato
Journal:  Neurology       Date:  1988-08       Impact factor: 9.910

3.  Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Authors:  A Dürr; M Cossee; Y Agid; V Campuzano; C Mignard; C Penet; J L Mandel; A Brice; M Koenig
Journal:  N Engl J Med       Date:  1996-10-17       Impact factor: 91.245

4.  Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.

Authors:  A E Harding
Journal:  Brain       Date:  1981-09       Impact factor: 13.501

5.  Recessive ataxia in Acadians and "Cajuns".

Authors:  A Barbeau; M Roy; M Sadibelouiz; M A Wilensky
Journal:  Can J Neurol Sci       Date:  1984-11       Impact factor: 2.104

6.  Frataxin fracas.

Authors:  M Cossée; V Campuzano; H Koutnikova; K Fischbeck; J L Mandel; M Koenig; S I Bidichandani; P I Patel; M D Moltè; J Cañizares; R De Frutos; L Pianese; F Cavalcanti; A Monticelli; S Cocozza; L Montermini; M Pandolfo
Journal:  Nat Genet       Date:  1997-04       Impact factor: 38.330

7.  The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Authors:  A Filla; G De Michele; F Cavalcanti; L Pianese; A Monticelli; G Campanella; S Cocozza
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

8.  Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.

Authors:  F Palau; G De Michele; J J Vilchez; M Pandolfo; E Monrós; S Cocozza; P Smeyers; J Lopez-Arlandis; G Campanella; S Di Donato
Journal:  Ann Neurol       Date:  1995-03       Impact factor: 10.422

9.  Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

Authors:  G De Michele; A Filla; F Cavalcanti; L Di Maio; L Pianese; I Castaldo; O Calabrese; A Monticelli; S Varrone; G Campanella
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-08       Impact factor: 10.154

10.  Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Authors:  V Campuzano; L Montermini; M D Moltò; L Pianese; M Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; A Monticelli; F Zara; J Cañizares; H Koutnikova; S I Bidichandani; C Gellera; A Brice; P Trouillas; G De Michele; A Filla; R De Frutos; F Palau; P I Patel; S Di Donato; J L Mandel; S Cocozza; M Koenig; M Pandolfo
Journal:  Science       Date:  1996-03-08       Impact factor: 47.728
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  36 in total

1.  Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.

Authors:  Andrew J Worth; Sankha S Basu; Eric C Deutsch; Wei-Ting Hwang; Nathaniel W Snyder; David R Lynch; Ian A Blair
Journal:  Bioanalysis       Date:  2015       Impact factor: 2.681

Review 2.  Friedreich ataxia: an overview.

Authors:  M B Delatycki; R Williamson; S M Forrest
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 3.  The yeast connection to Friedreich ataxia.

Authors:  S A Knight; R Kim; D Pain; A Dancis
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

4.  A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.

Authors:  Eric C Deutsch; Avni B Santani; Susan L Perlman; Jennifer M Farmer; Catherine A Stolle; Michael F Marusich; David R Lynch
Journal:  Mol Genet Metab       Date:  2010-07-08       Impact factor: 4.797

5.  Triple therapy with darbepoetin alfa, idebenone, and riboflavin in Friedreich's ataxia: an open-label trial.

Authors:  Javier Arpa; Irene Sanz-Gallego; Francisco J Rodríguez-de-Rivera; Francisco J Domínguez-Melcón; Daniel Prefasi; Javier Oliva-Navarro; Mar Moreno-Yangüela; Samuel I Pascual-Pascual
Journal:  Cerebellum       Date:  2013-10       Impact factor: 3.847

Review 6.  The structure and function of frataxin.

Authors:  Krisztina Z Bencze; Kalyan C Kondapalli; Jeremy D Cook; Stephen McMahon; César Millán-Pacheco; Nina Pastor; Timothy L Stemmler
Journal:  Crit Rev Biochem Mol Biol       Date:  2006 Sep-Oct       Impact factor: 8.250

7.  Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family.

Authors:  S J Cho; M G Lee; J K Yang; J Y Lee; H K Song; S W Suh
Journal:  Proc Natl Acad Sci U S A       Date:  2000-08-01       Impact factor: 11.205

Review 8.  Small molecules affecting transcription in Friedreich ataxia.

Authors:  Joel M Gottesfeld
Journal:  Pharmacol Ther       Date:  2007-08-09       Impact factor: 12.310

9.  Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH.

Authors:  V N Potaman; E A Oussatcheva; Y L Lyubchenko; L S Shlyakhtenko; S I Bidichandani; T Ashizawa; R R Sinden
Journal:  Nucleic Acids Res       Date:  2004-02-20       Impact factor: 16.971

10.  The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

Authors:  Nadège Calmels; Stéphane Schmucker; Marie Wattenhofer-Donzé; Alain Martelli; Nadège Vaucamps; Laurence Reutenauer; Nadia Messaddeq; Cécile Bouton; Michel Koenig; Hélène Puccio
Journal:  PLoS One       Date:  2009-07-24       Impact factor: 3.240
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