Literature DB >> 23475205

Expanding mutation spectrum in CPT II gene: identification of four novel mutations.

Pushpa Raj Joshi, Peter Young, Marcus Deschauer, Stephan Zierz.   

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Year:  2013        PMID： 23475205     DOI： 10.1007/s00415-013-6887-1

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  13 in total

1.  dbSNP: the NCBI database of genetic variation.

Authors:  S T Sherry; M H Ward; M Kholodov; J Baker; L Phan; E M Smigielski; K Sirotkin
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

2.  Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

Authors:  Angelica Anichini; Marina Fanin; Christine Vianey-Saban; Denise Cassandrini; Chiara Fiorillo; Claudio Bruno; Corrado Angelini
Journal:  Neurol Res       Date:  2010-08-31       Impact factor: 2.448

3.  Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

Authors:  Paul J Isackson; Michael J Bennett; Georgirene D Vladutiu
Journal:  Mol Genet Metab       Date:  2006-09-22       Impact factor: 4.797

4.  Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

Authors:  M Fanin; A Anichini; D Cassandrini; C Fiorillo; S Scapolan; C Minetti; M Cassanello; M A Donati; G Siciliano; A D'Amico; F Lilliu; C Bruno; C Angelini
Journal:  Clin Genet       Date:  2011-10-12       Impact factor: 4.438

5.  A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.

Authors:  Marcus Deschauer; Thomas Wieser; Rolf Schröder; Stephan Zierz
Journal:  Mol Genet Metab       Date:  2002-02       Impact factor: 4.797

Review 6.  Carnitine palmitoyltransferase deficiencies.

Authors:  J P Bonnefont; F Demaugre; C Prip-Buus; J M Saudubray; M Brivet; N Abadi; L Thuillier
Journal:  Mol Genet Metab       Date:  1999-12       Impact factor: 4.797

7.  Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.

Authors:  Marcus Deschauer; Thomas Wieser; Stephan Zierz
Journal:  Arch Neurol       Date:  2005-01

8.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

9.  Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle.

Authors:  S Zierz; A G Engel
Journal:  Eur J Biochem       Date:  1985-05-15

10.  Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.

Authors:  Pushpa Raj Joshi; Marcus Deschauer; Stephan Zierz
Journal:  Wien Klin Wochenschr       Date:  2012-11-27       Impact factor: 1.704
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  4 in total

Review 1.  Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.

Authors:  Diana Lehmann; Leila Motlagh; Dina Robaa; Stephan Zierz
Journal:  Int J Mol Sci       Date:  2017-01-03       Impact factor: 5.923

2.  Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

Authors:  Ivan Shelihan; Elsa Rossignol; Jean-Claude Décarie; Jean-Paul Bonnefont; Michèle Brivet; Catherine Brunel-Guitton; Grant A Mitchell
Journal:  JIMD Rep       Date:  2021-09-29

Review 3.  An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Authors:  Federica Marra; Paola Lunetti; Rosita Curcio; Francesco Massimo Lasorsa; Loredana Capobianco; Vito Porcelli; Vincenza Dolce; Giuseppe Fiermonte; Pasquale Scarcia
Journal:  Biomolecules       Date:  2021-11-04

Review 4.  Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.

Authors:  Pushpa Raj Joshi; Stephan Zierz
Journal:  Molecules       Date:  2020-04-13       Impact factor: 4.411
  4 in total

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