Andrzej Kochanski

Summary

Affiliation: Polish Academy of Sciences
Country: Poland

Publications

  1. ncbi Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome
    Anna Potulska-Chromik
    Department of Neurology, Medical University of Warsaw, Poland
    Folia Neuropathol 50:369-74. 2012
  2. ncbi Somatic mosaicism in Charcot-Marie-Tooth type X disease
    A Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Neurology 62:336-7. 2004
  3. ncbi Pathogenic mutations and non-pathogenic DNA polymorphisms in the most common neurodegenerative disorders
    Andrzej Kochanski
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02 106 Warszawa, Poland
    Folia Neuropathol 45:164-9. 2007
  4. ncbi How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?
    Andrzej Kochanski
    Neuromuscular Unit, Mossakowski Medical Research Center, Pawinskiego 5, 02 106 Warszawa, Poland
    J Appl Genet 47:255-60. 2006
  5. ncbi [Silver syndrome--case report]
    Andrzej Kochanski
    Zespół Badawczo Leczniczy Chorób Nerwowo Mieśniowych, Instytut Medycyny Dooewiadczalnej i Klinicznej Polskiej Akademii Nauk im M Mossakowskiego w Warszawie
    Neurol Neurochir Pol 41:562-6. 2007
  6. ncbi Molecular genetics studies in Polish Charcot-Marie-Tooth families
    Andrzej Kochanski
    Neuromuscular Unit, M Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02 106 Warsaw, Poland
    Folia Neuropathol 43:65-73. 2005
  7. ncbi Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci
    A Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02 106 Warsaw, Poland
    Neurology 64:533-5. 2005
  8. ncbi De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease
    Andrzej Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Acta Biochim Pol 51:1047-50. 2004
  9. ncbi [Pathogenic mutation or polymorphism? (How to find criteria)]
    Andrzej Kochanski
    Zespół Badawczo Leczniczy Chorób Nerwowo Mieśniowych, Instytut Medycyny Doświadczalnej i Klinicznej im M Mossakowskiego, Polska Akademia Nauk, ul Pawinskiego 5, 02 106 Warszawa, Poland
    Med Wieku Rozwoj 10:335-41. 2006
  10. ncbi Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect
    Andrzej Kochanski
    Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Folia Neuropathol 42:187-90. 2004

Collaborators

Detail Information

Publications38

  1. ncbi Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome
    Anna Potulska-Chromik
    Department of Neurology, Medical University of Warsaw, Poland
    Folia Neuropathol 50:369-74. 2012
    ....
  2. ncbi Somatic mosaicism in Charcot-Marie-Tooth type X disease
    A Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Neurology 62:336-7. 2004
  3. ncbi Pathogenic mutations and non-pathogenic DNA polymorphisms in the most common neurodegenerative disorders
    Andrzej Kochanski
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02 106 Warszawa, Poland
    Folia Neuropathol 45:164-9. 2007
    ..The aim of this short review is to present a set of mutations with no clear pathogenic effect that have been identified in some neurodegenerative disorders...
  4. ncbi How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?
    Andrzej Kochanski
    Neuromuscular Unit, Mossakowski Medical Research Center, Pawinskiego 5, 02 106 Warszawa, Poland
    J Appl Genet 47:255-60. 2006
    ..Since the number of DNA variants is still growing, in the near future geneticists will increasingly have to cope with the problem of pathogenicity of identified genetic variants...
  5. ncbi [Silver syndrome--case report]
    Andrzej Kochanski
    Zespół Badawczo Leczniczy Chorób Nerwowo Mieśniowych, Instytut Medycyny Dooewiadczalnej i Klinicznej Polskiej Akademii Nauk im M Mossakowskiego w Warszawie
    Neurol Neurochir Pol 41:562-6. 2007
    ..Due to the lack of pyramidal symptoms and slightly expressed sensory fiber damage (in neurographic studies), motor neuropathy type of the Silver syndrome with minor sensory component was diagnosed...
  6. ncbi Molecular genetics studies in Polish Charcot-Marie-Tooth families
    Andrzej Kochanski
    Neuromuscular Unit, M Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02 106 Warsaw, Poland
    Folia Neuropathol 43:65-73. 2005
    ..The aim of this study was to present the main directions of genetic analysis performed in Polish families with CMT disease...
  7. ncbi Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci
    A Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02 106 Warsaw, Poland
    Neurology 64:533-5. 2005
    ..Nine known CMT2 gene loci and one MPZ gene locus have been excluded. The authors' findings suggest that this family represents a novel form of CMT2 disease...
  8. ncbi De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease
    Andrzej Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Acta Biochim Pol 51:1047-50. 2004
    ..In the present study we report two cases of de novo S72L mutations in the PMP22 gene detected in patients of Polish origin suffering from CMT1 disease...
  9. ncbi [Pathogenic mutation or polymorphism? (How to find criteria)]
    Andrzej Kochanski
    Zespół Badawczo Leczniczy Chorób Nerwowo Mieśniowych, Instytut Medycyny Doświadczalnej i Klinicznej im M Mossakowskiego, Polska Akademia Nauk, ul Pawinskiego 5, 02 106 Warszawa, Poland
    Med Wieku Rozwoj 10:335-41. 2006
    ..The aim of this study is to describe the problem of the pathogenic effect of mutations...
  10. ncbi Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect
    Andrzej Kochanski
    Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Folia Neuropathol 42:187-90. 2004
    ..The aim of this study was to analyse a potential pathogenous effect of the mutations in the NEFL gene identified in CMT affected patients...
  11. ncbi Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes
    A Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Acta Myol 23:6-9. 2004
    ..In this study, a Charcot-Marie-Tooth disease phenotype diversity associated with different mutations in the MPZ gene, is described...
  12. ncbi Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene
    Andrzej Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02 106 Warsaw, Poland
    Eur J Paediatr Neurol 8:221-4. 2004
    ..Similarly to the other MPZ gene frame-shift mutations reported as far the Leu190fs seems to have a dominant negative effect...
  13. ncbi A novel MPZ gene mutation in congenital neuropathy with hypomyelination
    A Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Neurology 62:2122-3. 2004
    ..The authors describe the clinical and morphologic features of a patient with CHN and the identification of a novel Thr124Lys mutation in the MPZ gene...
  14. ncbi Molecular genetic analysis of the GJB1 gene: a study of six mutations
    Andrzej Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    J Appl Genet 45:95-100. 2004
    ..Moreover, we attempted to report evidence of effects of 6 amino-acid substitutions described in this study. To the best of our knowledge, the G110D, V152D and K167E mutations are novel substitutions, which have not been reported so far...
  15. ncbi A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin
    A Kochanski
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Banacha 1a, Warsaw 02 098, Poland
    Neuromuscul Disord 14:229-32. 2004
    ..Sural nerve biopsy demonstrated focally folded myelin. Molecular genetic analysis of the coding region of the Myelin Protein Zero gene revealed a novel mutation, Thr65Ala, in exon 2 of the Myelin Protein Zero gene...
  16. doi Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations
    Hanna Drac
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02 106, Warsaw, Poland
    J Appl Genet 52:177-83. 2011
    ..To the best of our knowledge, we present here, for the first time, morphological data obtained in two sural nerve biopsies pointing to a hypomyelination-dysmyelination process in a family harboring the Pro132Leu mutation in the MPZ gene...
  17. ncbi A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease
    Dagmara Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02 106 Warsaw, Poland
    J Neurol Sci 241:7-11. 2006
    ..So far, 23 mutations in the GDAP1 gene have been reported in patients of different ethnic origins. In this study we report a novel mutation Met116Thr in the GDAP1 gene identified in a three generation Polish family with axonal CMT4...
  18. ncbi Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models
    Dagmara Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    J Peripher Nerv Syst 11:225-31. 2006
    ..These data suggest that this I214M substitution in the NEFL gene was not a direct cause of the disease but could be a polymorphism or possibly a modifier of the CMT phenotype...
  19. ncbi Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease
    Adam Nowakowski
    Agricultural University, Interdisciplinary Department of Biotechnology, Warszawa, Poland
    Acta Biochim Pol 51:273-80. 2004
    ..In agreement with previously reported studies we conclude that MPZ gene screening should be performed for wide phenotype spectrum of CMT...
  20. pmc A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene
    Katarzyna Kotruchow
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Acta Myol 32:166-9. 2013
    ..Due to disturbance of the MFN2 splicing process, this mutation generates a short transcript which encodes a very short fragment of MFN2 protein. The c.311+1G>T mutation within the MFN2 gene results in the late -onset CMT2 disease. ..
  21. doi A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, ul Pawinskiego 5, 02 106 Warsaw, Poland
    Neuromuscul Disord 18:339-41. 2008
    ..Her electrophysiological testing showed chronic neurogenic changes in proximal muscles that are typical for SMA, but also slowed conduction velocity in motor and sensory fibers that is typical for demyelinating neuropathy...
  22. doi A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease
    Dagmara Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Neurogenetics 12:145-53. 2011
    ..Our study shows that clinical outcome of CMT disease caused by mutations in the GDAP1 gene cannot be predicted solely on the basis of genetic results (missense/nonsense mutations)...
  23. ncbi Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene
    Dagmara Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Am J Med Genet A 143:2196-9. 2007
  24. ncbi A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies
    Izabela Moszyńska
    Neuromuscular Unit, Mossakowski Medical Research Centre Polish Academy of Sciences, Warszawa, Poland
    Acta Biochim Pol 56:627-30. 2009
    ..We conclude that all patients who fulfill the electrophysiological criteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mutations in the PMP22 gene...
  25. ncbi The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease
    Elena Sinkiewicz-Darol
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Acta Biochim Pol 57:373-7. 2010
    ..We conclude that the 5' regulatory sequence of the PMP22 gene is conserved at the nucleotiode level, however rarely occurring SNPs variant in the PMP22 regulatory sequence may be associated with the gene dosage effect...
  26. ncbi [Charcot-Marie-Tooth disorders: past, today and tomorrow]
    Andrzej Kochanski
    Zespół Badawczo Leczniczy Chorób Nerwowo Mieśniowych, Instytut Medycyny Doświadczalnej i Klinicznej im M Mossakowskiego, Polska Akademia Nauk, ul A Pawińskiego 5, 02 106 Warszawa
    Neurol Neurochir Pol 40:327-35. 2006
    ..The question whether and when gene therapy will be available in CMT remains to be answered, similar to other disorders with a genetic background...
  27. ncbi L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype
    Dagmara Kabzinska
    Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Neurogenetics 11:357-66. 2010
    ....
  28. ncbi Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation
    Dagmara Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Acta Biochim Pol 58:359-63. 2011
    ..459C>T and c.-529T>C mutations remain pathogenic in the context of different ethnic background...
  29. ncbi [Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report]
    Małgorzata Dorobek
    Zespół Badawczo Leczniczy Chorób Nerwowo Mieśniowych, Instytut Medycyny Doświadczalnej i Klinicznej im M Mossakowskiego, PAN w Warszawie
    Neurol Neurochir Pol 38:83-8. 2004
    ..Molecular analyses are particularly important in atypical and sporadic cases. It is the first genetic presentation of a group of patients' with this kind of dystrophy in the Polish population...
  30. ncbi A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment
    Małgorzata Dorobek
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, 5 Pawinskiego Street, 02 106 Warsaw, Poland
    Eur J Paediatr Neurol 8:313-6. 2004
    ..This case demonstrates difficulties in the management of abnormal posture, especially early hyperlordosis in children with this disorder...
  31. ncbi [Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease]
    Ewa Sołtysińska
    Zespół Badawczo Leczniczy Chorób Nerwowo Mieśniowych, Instytut Medycyny Doświadczalnej i Klinicznej im M Mossakowskiego Polskiej Akademii Nauk, Warszawa
    Neurol Neurochir Pol 41:350-4. 2007
    ..As MFN2 gene mutations are the most common cause of autosomal dominant CMT2 disease (33% of cases), MFN2 gene testing may be considered a diagnostic test for CMT2...
  32. ncbi Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
    D Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Neurology 66:745-7. 2006
    ..In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease...
  33. doi Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment
    D Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    J Appl Genet 51:203-9. 2010
    ..We suggest that the Ser112Arg mutation in the PMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated with PMP22 gene mutations...
  34. pmc Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene
    I Moszyńka
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Acta Myol 28:72-5. 2009
    ..However, despite severe biochemical defects, the Cys179Gly mutation segregates with a mild CMT1X phenotype. This study further documents a discrepancy between biochemical effects of GJB1 mutations and the CMT1X phenotype...
  35. pmc Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene
    D Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Acta Myol 26:108-11. 2007
    ..Herein, a novel Pro153Leu mutation in the GDAP1 gene identified in a consanguineous Polish family is described and longitudinal clinical and electrophysiological studies as well as morphological findings are presented...
  36. ncbi Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)
    D Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    J Appl Genet 50:283-8. 2009
    ..2--p12 duplication/deletion. Due to a high frequency of CMT1A duplication in familial cases of CMT, we propose (in contrast to the previous studies) to perform Q-PCR analysis in all patients diagnosed with CMT...
  37. ncbi Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance
    D Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, Pawinskiego 5, Warszawa, Poland
    Clin Neuropathol 27:1-12. 2008
    ..In the present review, we summarize molecular, electrophysiological, neuropathological and clinical aspects of AR-CMT disorders...
  38. ncbi Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene
    D Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Acta Myol 25:34-7. 2006
    ..We report a homozygous Leu239Phe mutation in the GDAP1 gene in a 39-year-old female with a severe form of mixed axonal and demyelinating Charcot-Marie-Tooth disease...