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    1. Seeman, P; Mazanec, R; Ctvrteckova, M; Smilkova, D
      Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with centralconduction slowing

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    2. Huehne, K; Rautenstrauss, B
      Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    3. Norreel, JC; Jamon, M; Riviere, G; Passage, E; Fontes, M; Clarac, F
      Behavioural profiling of a murine Charcot-Marie-Tooth disease type 1A model

      EUROPEAN JOURNAL OF NEUROSCIENCE
    4. Hai, M; Bidichandani, SI; Patel, PI
      Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene

      JOURNAL OF NEUROSCIENCE RESEARCH
    5. Aarskog, NK; Aadland, S; Gjerde, IO; Vedeler, CA
      Molecular genetic analysis of Charcot-Marie-Tooth 1A duplication in Norwegian patients by quantitative photostimulated luminescence imaging

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    6. Latour, P; Boutrand, L; Levy, N; Bernard, R; Boyer, A; Claustrat, F; Chazot, G; Boucherat, M; Vandenberghe, A
      Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth IA duplication

      CLINICAL CHEMISTRY
    7. Badano, JL; Inoue, K; Katsanis, N; Lupski, JR
      New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type IA duplication diagnosis

      CLINICAL CHEMISTRY
    8. Sancho, S; Young, P; Suter, U
      Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A

      BRAIN
    9. Stockton, DW; Meade, RA; Netscher, DT; Epstein, MJ; Shenaq, SM; Shaffer, LG; Lupski, JR
      Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome

      ARCHIVES OF NEUROLOGY
    10. Jenne, DE; Tinschert, S; Reimann, H; Lasinger, W; Thiel, G; Hameister, H; Kehrer-Sawatzki, H
      Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. Periquet, M; Lucking, CB; Vaughan, JR; Bonifati, V; Durr, A; De Michele, G; Horstink, MW; Farrer, M; Illarioshkin, SN; Pollak, P; Borg, M; Brefel-Courbon, C; Denefle, P; Meco, G; Gasser, T; Breteler, MMB; Wood, NW; Agid, Y; Brice, A
      Origin of the mutations in the parkin gene in europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. Aarskog, NK; Vedeler, CA
      Recombination breakpoints in the Charcot-Marie-Tooth 1A repeat sequence inNorwegian families

      ACTA NEUROLOGICA SCANDINAVICA
    13. Potocki, L; Chen, KS; Park, SS; Osterholm, DE; Withers, MA; Kimonis, V; Summers, AM; Meschino, WS; Anyane-Yeboa, K; Kashork, CD; Shaffer, LG; Lupski, JR
      Molecular mechanism for duplication 17p11.2 - the homologous recombinationreciprocal of the Smith-Magenis microdeletion

      NATURE GENETICS
    14. Bernard, R; Labelle, V; Negre, P; Tardieu, S; Azulay, JP; Malzac, P; Mattei, JF; Leguern, E; Philip, N; Levy, N
      Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A

      EUROPEAN JOURNAL OF HUMAN GENETICS
    15. Han, LL; Keller, MP; Navidi, W; Chance, PF; Arnheim, N
      Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate

      HUMAN MOLECULAR GENETICS
    16. Muller, HW
      Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: New facts and hypotheses

      GLIA
    17. Aarskog, NK; Vedeler, CA
      Real-time quantitative polymerase chain reaction - A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Toothtype 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies

      HUMAN GENETICS
    18. Hanemann, CO; D'Urso, D; Gabreels-Festen, AAWM; Muller, HW
      Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A

      BRAIN
    19. Hodes, ME; Woodward, K; Spinner, NB; Emanuel, BS; Enrico-Simon, A; Kamholz, J; Stambolian, D; Zackai, EH; Pratt, VM; Thomas, IT; Crandall, K; Dlouhy, SR; Malcolm, S
      Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome

      AMERICAN JOURNAL OF HUMAN GENETICS
    20. Stronach, EA; Clark, C; Bell, C; Lofgren, A; McKay, NG; Timmerman, V; Van Broeckhoven, C; Haites, NE
      Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies

      JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
    21. Tachi, N; Kozuka, N; Ohya, K; Chiba, S
      Charcot-Marie-Tooth disease type 1A duplication by PCR analysis

      PEDIATRIC NEUROLOGY
    22. Huhne, K; Park, O; Liehr, T; Rautenstrauss, B
      Expression analysis of the PMP22 gene in glioma and osteogenic sarcoma cell lines

      JOURNAL OF NEUROSCIENCE RESEARCH
    23. Keller, MP; Chance, PF
      Inherited peripheral neuropathy

      SEMINARS IN NEUROLOGY
    24. Kashork, CD; Lupski, JR; Shaffer, LG
      Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization

      PRENATAL DIAGNOSIS
    25. Balarin, MAS; Lopes, VLGD; Varella-Garcia, M
      A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Lupski, JR
      Charcot-Marie-tooth polyneuropathy: Duplication, gene dosage, and genetic heterogeneity

      PEDIATRIC RESEARCH
    27. DEVOS A; SERMON K; VANDEVELDE H; JORIS H; VANDERVORST M; LISSENS W; MORTIER G; DESUTTER P; LOFGREN A; VANBROECKHOVEN C; LIEBAERS I; VANSTEIRTEGHEM A
      PREGNANCY AFTER PREIMPLANTATION GENETIC DIAGNOSIS FOR CHARCOT-MARIE-TOOTH-DISEASE TYPE 1A

      Molecular human reproduction (Print)
    28. LEONARDIS L; ZIDAR J; EKICI A; PETERLLIN B; RAUTENSTRAUSS B
      AUTOSOMAL-DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 1A AND HEREDITARYNEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - DETECTION OF THE RECOMBINATION HOTSPOT IN SLOVENE PATIENTS AND EXCLUSION OF THE POTENTIALLYRECESSIVE THR118MET PMP22 POINT MUTATION

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    29. YAMAMOTO M; KELLER MP; YASUDA T; HAYASAKA K; OHNISHI A; YOSHIKAWA H; YANAGIHARA T; MITSUMA T; CHANCE PF; SOBUE G
      CLUSTERING OF CMT1A DUPLICATION BREAKPOINTS IN A 700 BP INTERVAL OF THE CMT1A-REP REPEAT

      Human mutation
    30. REDDY KS; LARSEN MB
      A MOLECULAR, CYTOGENETIC, AND CLINICAL-EVALUATION OF MOSAIC TANDEM DUPLICATION 17P AND CHARCOT-MARIE-TOOTH TYPE 1A NEUROPATHY

      Journal of Medical Genetics
    31. KING PH; WALDROP R; LUPSKI JR; SHAFFER LG
      CHARCOT-MARIE-TOOTH PHENOTYPE PRODUCED BY A DUPLICATED PMP22 GENE AS PART OF A 17P TRISOMY-TRANSLOCATION TO THE X-CHROMOSOME

      Clinical genetics
    32. POROPAT RA; NICHOLSON GA
      DETERMINATION OF GENE DOSAGE AT THE PMP22 AND ANDROGEN RECEPTOR LOCI BY QUANTITATIVE PCR

      Clinical chemistry
    33. WOODWARD K; KENDALL E; VETRIE D; MALCOLM S
      PELIZAEUS-MERZBACHER-DISEASE - IDENTIFICATION OF XQ22 PROTEOLIPID-PROTEIN DUPLICATIONS AND CHARACTERIZATION OF BREAKPOINTS BY INTERPHASE FISH

      American journal of human genetics
    34. CRUZMARTINEZ A; BORT S; ARPA J; DUARTE J; PALAU F
      CLINICAL, GENETIC AND ELECTROPHYSIOLOGIC CORRELATION IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES WITH INVOLVEMENT OF PMP22 GENE AT CHROMOSOME 17P11.2

      European journal of neurology
    35. IKEGAMI T; IKEDA H; CHANCE PE; KIYOSAWA H; YAMAMOTO M; SOBUE G; OHNISHI A; TACHI N; HAYASAKA K
      FACILITATED DIAGNOSIS OF CMT1A DUPLICATION IN CHROMOSOME 17P11.2-12 -ANALYSIS WITH A CMT1A-REP REPEAT PROBE AND PHOTOSTIMULATED LUMINESCENCE IMAGING

      Human mutation
    36. GREHL H; RAUTENSTRAUSS B; LIEHR T; BICKEL A; EKICI A; BATHKE K; NEUNDORFER B
      CLINICAL AND MORPHOLOGICAL PHENOTYPE OF HMSN 1A MOSAICISM

      Neuromuscular disorders
    37. KENNERSON ML; NASSIF NT; DAWKINS JL; DEKROON RM; YANG JG; NICHOLSON GA
      THE CHARCOT-MARIE-TOOTH BINARY REPEAT CONTAINS A GENE TRANSCRIBED FROM THE OPPOSITE STRAND OF A PARTIALLY DUPLICATED REGION OF THE COX10 GENE

      Genomics
    38. SUH JG; ICHIHARA N; SAIGOH K; NAKABAYASHI O; YAMANISHI T; TANAKA K; WADA K; KIKUCHI T
      AN IN-FRAME DELETION IN PERIPHERAL MYELIN PROTEIN-22 GENE CAUSES HYPOMYELINATION AND CELL-DEATH OF THE SCHWANN-CELLS IN THE NEW TREMBLER MUTANT MICE

      Neuroscience
    39. MARROSU MG; VACCARGIU S; MARROSU G; VANNELLI A; CIANCHETTI C; MUNTONI F
      A NOVEL POINT MUTATION IN THE PERIPHERAL MYELIN PROTEIN-22 (PMP22) GENE ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

      Neurology
    40. WICKLEIN EM; PFEIFFER G; RATUSINSKI T; KUNZE K
      CHARCOT-MARIE-TOOTH SYNDROME TYPE-1 DISAB ILITY AND MANAGEMENT

      Nervenarzt
    41. KOMIYAMA A; OHNISHI A; IZAWA K; YAMAMORI S; OHASHI H; HASEGAWA O
      DE-NOVO MUTATION (AG-98-]CYS) OF THE MYELIN P-0 GENE AND UNCOMPACTIONOF THE MAJOR DENSE LINE OF THE MYELIN SHEATH IN A SEVERE VARIANT OF CHARCOT-MARIE-TOOTH-DISEASE TYPE 1B

      Journal of the neurological sciences
    42. SESSA M; NEMNI R; QUATTRINI A; DELCARRO U; WRABETZ L; CANAL N
      ATYPICAL HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - THE VALUE OF DIRECT DNA DIAGNOSIS

      Journal of Medical Genetics
    43. BIROUK N; GOUIDER R; LEGUERN E; GUGENHEIM M; TARDIEU S; MAISONOBE T; LEFORESTIER N; AGID Y; BRICE A; BOUCHE P
      CHARCOT-MARIE-TOOTH DISEASE TYPE-1A WITH 17P11.2 DUPLICATION - CLINICAL AND ELECTROPHYSIOLOGICAL PHENOTYPE STUDY AND INFLUENCING DISEASE SEVERITY IN 119 CASES

      Brain
    44. SILANDER K; MERETOJA P; NELIS E; TIMMERMAN V; VANBROECKHOVEN C; AULA P; SAVONTAUS ML
      A DE-NOVO DUPLICATION IN 17P11.2 AND A NOVEL MUTATION IN THE P-O GENEIN 2 DEJERINE-SOTTAS SYNDROME PATIENTS

      Human mutation
    45. NELIS E; VANBROECKHOVEN C
      ESTIMATION OF THE MUTATION FREQUENCIES IN CHARCOT-MARIE-TOOTH DISEASETYPE-1 AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES -A EUROPEAN COLLABORATIVE STUDY

      European journal of human genetics
    46. ROA BB; GREENBERG F; GUNARATNE P; SAUER CM; LUBINSKY MS; KOZMA C; MECK JM; MAGENIS RE; SHAFFER LG; LUPSKI JR
      DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE-1A NEUROPATHY

      Human genetics
    47. AMATO AA; GRONSETH GS; CALLERAME KJ; KAGANHALLET KS; BRYAN WW; BAROHN RJ
      TOMACULOUS NEUROPATHY - A CLINICAL AND ELECTROPHYSIOLOGICAL STUDY IN PATIENTS WITH AND WITHOUT 1.5-MB DELETIONS IN CHROMOSOME 17P11.2

      Muscle & nerve
    48. STURTZ FG; CHAUVIN F; OLLAGNONROMAN E; BOST M; LATOUR P; BONNEBOUCHE C; GONNAUD PM; BADY B; CHAZOT G; VANDENBERGHE A; BEAUVAIS P; CHAPON F; CLAVELOU P; FLOCARD F; MATHIEU M; POUGET J; RENDU M
      MODELIZATION OF MOTOR-NERVE CONDUCTION VELOCITIES FOR CHARCOT-MARIE-TOOTH (TYPE-1) PATIENTS

      European neurology
    49. HANEMANN CO; GABREELSFESTEN AAWM; MULLER HW; STOLL G
      LOW-AFFINITY NGF RECEPTOR EXPRESSION IN CMT1A NERVE BIOPSIES OF DIFFERENT DISEASE STAGES

      Brain
    50. HODES ME; DLOUHY SR
      THE PROTEOLIPID PROTEIN GENE - DOUBLE, DOUBLE, ... AND TROUBLE

      American journal of human genetics
    51. NISHIMURA T; YOSHIKAWA H; FUJIMURA H; SAKODA S; YANAGIHARA T
      ACCUMULATION OF PERIPHERAL MYELIN PROTEIN-22 IN ONION BULBS AND SCHWANN-CELLS OF BIOPSIED NERVES FROM PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

      Acta Neuropathologica
    52. LATOUR P; BLANQUET F; NELIS E; BONNEBOUCHE C; CHAPON F; DIRAISON P; OLLAGNON E; DAUTIGNY A; PHAMDINH D; CHAZOT G; BOUCHERAT M; VANBROECKHOVEN C; VANDENBERGHE A
      MUTATIONS IN THE MYELIN PROTEIN ZERO GENE ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

      Human mutation
    53. LUTSCHG J; MULLER HJ; MALIK NJ
      THE VALUE OF FAMILY INVESTIGATIONS IN NEWLY DETECTED CHARCOT-MARIE-TOOTH DISEASE IN CHILDREN

      European journal of pediatrics
    54. MOSTACCIUOLO ML; SCHIAVON F; ANGELINI C; NICCOLI B; PICCOLO F; DANIELI GA
      FREQUENCY OF DUPLICATION AT 17P11.2 IN FAMILIES OF NORTHEAST ITALY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE-1

      Neuroepidemiology
    55. NAVON R; TIMMERMAN V; LOFGREN A; LIANG P; NELIS E; ZEITUNE M; VANBROECKHOVEN C
      PRENATAL-DIAGNOSIS OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A) USING MOLECULAR-GENETIC TECHNIQUES

      Prenatal diagnosis
    56. GARCIA CA; MALAMUT RE; ENGLAND JD; PARRY GS; LIU P; LUPSKI JR
      CLINICAL VARIABILITY IN 2 PAIRS OF IDENTICAL-TWINS WITH THE CHAREOT-MARIE-TOOTH DISEASE TYPE 1A DUPLICATION

      Neurology
    57. LORENZETTI D; PAREYSON D; SGHIRLANZONI A; ROA BB; ABBAS NE; PANDOLFO M; DIDONATO S; LUPSKI JR
      A 1.5-MB DELETION IN 17P11.2-P12 IS FREQUENTLY OBSERVED IN ITALIAN FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

      American journal of human genetics
    58. CHANCE PF; ABBAS N; LENSCH MW; PENTAO L; ROA BB; PATEL PI; LUPSKI JR
      2 AUTOSOMAL-DOMINANT NEUROPATHIES RESULT FROM RECIPROCAL DNA DUPLICATION DELETION OF A REGION ON CHROMOSOME-17/

      Human molecular genetics
    59. HANEMANN CO; STOLL G; DURSO D; FRICKE W; MARTIN JJ; VANBROECKHOVEN C; MANCARDI GL; BARTKE I; MULLER HW
      PERIPHERAL MYELIN PROTEIN-22 EXPRESSION IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A SURAL NERVE BIOPSIES

      Journal of neuroscience research
    60. HOLMBERG BH; HOLMGREN G; NELIS E; VANBROECKHOVEN C; WESTERBERG B
      CHARCOT-MARIE-TOOTH DISEASE IN NORTHERN SWEDEN - PEDIGREE ANALYSIS AND THE PRESENCE OF THE DUPLICATION IN CHROMOSOME 17P11.2

      Journal of Medical Genetics
    61. HERTZ JM; BORGLUM AD; BRANDT CA; FLINT T; BISGAARD C
      CHARCOT-MARIE-TOOTH DISEASE TYPE 1A - THE PARENTAL ORIGIN OF A DE-NOVO 17P11.2-P12 DUPLICATION

      Clinical genetics
    62. IONASESCU VV; IONASESCU R; SEARBY C
      SCREENING OF DOMINANTLY INHERITED CHARCOT-MARIE-TOOTH NEUROPATHIES

      Muscle & nerve
    63. HAMIEL OP; RAASROTHSCHILD A; UPADHYAYA M; FRYDMAN M; SAROVAPINHAS I; BRAND N; PASSWELL JH
      HEREDITARY MOTOR-SENSORY NEUROPATHY (CHARCOT-MARIE-TOOTH DISEASE) WITH NERVE DEAFNESS - A NEW VARIANT

      The Journal of pediatrics
    64. ROA BB; LUPSKI JR
      MOLECULAR-BASIS OF CHARCOT-MARIE-TOOTH DISEASE TYPE-1A - GENE DOSAGE AS A NOVEL MECHANISM FOR A COMMON AUTOSOMAL-DOMINANT CONDITION

      The American journal of the medical sciences


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Documento generato il 04/08/20 alle ore 03:03:49