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La ricerca find articoli where soggetti phrase all words 'PMP-22' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 79 riferimenti
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    1. Street, VA; Goldy, JD; Golden, AS; Tempel, BL; Bird, TD; Chance, PF
      Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Orstavik, K; Heier, MS; Young, P; Stogbauer, F
      Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies

      MUSCLE & NERVE
    3. Rowland, JS; Barton, DE; Taylor, GR
      A comparison of methods for gene dosage analysis in HMSN type 1

      JOURNAL OF MEDICAL GENETICS
    4. Wilke, K; Duman, B; Horst, J
      Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR

      HUMAN MUTATION
    5. 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
    6. Attardi, LD; Reczek, EE; Cosmas, C; Demicco, EG; McCurrach, ME; Lowe, SW; Jacks, T
      PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family

      GENES & DEVELOPMENT
    7. Saberan-Djoneidi, D; Sanguedolce, V; Assouline, Z; Levy, N; Passage, E; Fontes, M
      Molecular dissection of the Schwann cell specific promoter of the PMP22 gene

      GENE
    8. 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
    9. Dupre, N; Bouchard, JP; Cossette, L; Brunet, D; Vanasse, M; Lemieux, B; Mathon, G; Puymirat, J
      Clinical and electrophysiological study in French-Canadian population withCharcot-Marie-Tooth disease type 1A associated with 17p11.2 duplication

      CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
    10. 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
    11. NICHOLSON GA; YEUNG L; CORBETT A
      EFFICIENT NEUROPHYSIOLOGIC SELECTION OF X-LINKED CHARCOT-MARIE-TOOTH FAMILIES - 10 NOVEL MUTATIONS

      Neurology
    12. MARROSU MG; VACCARGIU S; MARROSU G; VANNELLI A; CIANCHETTI C; MUNTONI F
      CHARCOT-MARIE-TOOTH-DISEASE TYPE-2 ASSOCIATED WITH MUTATION OF THE MYELIN PROTEIN ZERO GENE

      Neurology
    13. CHANG JG; JONG YJ; WANG WP; WANG JC; HU CJ; LO MC; CHANG CP
      RAPID DETECTION OF A RECOMBINANT HOTSPOT ASSOCIATED WITH CHARCOT-MARIE-TOOTH-DISEASE TYPE 1A DUPLICATION BY A PCR-BASED DNA TEST

      Clinical chemistry
    14. GABRIEL CM; HUGHES RAC; MOORE SE; SMITH KJ; WALSH FS
      INDUCTION OF EXPERIMENTAL AUTOIMMUNE NEURITIS WITH PERIPHERAL MYELIN PROTEIN-22

      Brain (Print)
    15. THIEX R; SCHRODER JM
      PMP-22 GENE DUPLICATIONS AND DELETIONS IDENTIFIED IN ARCHIVAL, PARAFFIN-EMBEDDED SURAL NERVE BIOPSY SPECIMENS - CORRELATION TO STRUCTURAL-CHANGES

      Acta Neuropathologica
    16. VANSCHAIK IN; VERMEULEN M; BRAND A
      IMMUNOMODULATION AND REMYELINATION - 2 ASPECTS OF HUMAN POLYCLONAL IMMUNOGLOBULIN TREATMENT IN IMMUNE-MEDIATED NEUROPATHIES

      Multiple sclerosis
    17. NELIS E; HOLMBERG B; ADOLFSSON R; HOLMGREN G; VANBROECKHOVEN C
      PMP22 THR(118)MET - RECESSIVE CMT1 MUTATION OR POLYMORPHISM

      Nature genetics
    18. NELIS E; SIMOKOVIC S; TIMMERMAN V; LOFGREN A; BACKHOVENS H; DEJONGHE P; MARTIN JJ; VANBROECKHOVEN C
      MUTATION ANALYSIS OF THE CONNEXIN-32 (CX32) GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1 - IDENTIFICATION OF 5 NEW MUTATIONS

      Human mutation
    19. ABE Y; IKEGAMI T; HAYASAKA K; TANNO Y; WATANABE T; SUGIYAMA Y; YAMAMOTO T
      PRESSURE PALSY AS THE INITIAL PRESENTATION IN A CASE OF LATE-ONSET CHARCOT-MARIE-TOOTH-DISEASE TYPE 1A

      Internal medicine
    20. TACHI N; KOZUKA N; OHYA K; CHIBA S
      DE-NOVO MUTATION OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

      Pediatric neurology
    21. KOZUKA N; TACHI N; OHYA K; CHIBA S
      MOLECULAR AND PATHOLOGICAL-STUDIES IN CHARCOT-MARIE-TOOTH DISEASE 1A

      Brain & development
    22. LEGUERN E; GOUIDER R; MABIN D; TARDIEU S; BIROUK N; PARENT P; BOUCHE P; BRICE A
      PATIENTS HOMOZYGOUS FOR THE 17P11.2 DUPLICATION IN CHARCOT-MARIE-TOOTH TYPE 1A DISEASE

      Annals of neurology
    23. TOEWS AD; HOSTETTLER J; BARRETT C; MORELL P
      ALTERATIONS IN GENE-EXPRESSION ASSOCIATED WITH PRIMARY DEMYELINATION AND REMYELINATION IN THE PERIPHERAL NERVOUS-SYSTEM

      Neurochemical research
    24. BRONSTEIN JM; MICEVYCH PE; CHEN K
      OLIGODENDROCYTE-SPECIFIC PROTEIN (OSP) IS A MAJOR COMPONENT OF CNS MYELIN

      Journal of neuroscience research
    25. BORT S; NELIS E; TIMMERMAN V; SEVILLA T; CRUZMARTINEZ A; MARTINEZ F; MILLAN JM; ARPA J; VILCHEZ JJ; PRIETO F; VANBROECKHOVEN C; PALAU F
      MUTATIONAL ANALYSIS OF THE MPZ, PMP22 AND CX32 GENES IN PATIENTS OF SPANISH ANCESTRY WITH CHARCOT-MARIE-TOOTH-DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

      Human genetics
    26. SAITO M; HAYASHI Y; SUZUKI T; TANAKA H; HOZUMI I; TSUJI S
      LINKAGE MAPPING OF THE GENE FOR CHARCOT-MARIE-TOOTH-DISEASE TYPE-2 TOCHROMOSOME 1P (CMT2A) AND THE CLINICAL-FEATURES OF CMT2A

      Neurology
    27. 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
    28. 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
    29. 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
    30. WARNER LE; ROA BB; LUPSKI JR
      ABSENCE OF PMP22 CODING REGION MUTATIONS IN CMT1A DUPLICATION PATIENTS - FURTHER EVIDENCE SUPPORTING GENE DOSAGE AS A MECHANISM FOR CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

      Human mutation
    31. TAN CC; AINSWORTH PJ; HAHN AF; MACLEOD PM
      NOVEL MUTATIONS IN THE CONNEXIN-32 GENE ASSOCIATED WITH X-LINKED CHARCOT-MARIE-TOOTH-DISEASE

      Human mutation
    32. NELIS E; WARNER LE; DEVRIENDT E; CHANCE PF; LUPSKI JR; VANBROECKHOVEN C
      COMPARISON OF SINGLE-STRAND CONFORMATION POLYMORPHISM AND HETERODUPLEX ANALYSIS FOR DETECTION OF MUTATIONS IN CHARCOT-MARIE-TOOTH TYPE-1 DISEASE AND RELATED PERIPHERAL NEUROPATHIES

      European journal of human genetics
    33. 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
    34. NAVON R; SEIFRIED B; GALON NS; SADEH M
      A NEW POINT MUTATION AFFECTING THE 4TH TRANSMEMBRANE DOMAIN OF PMP22 RESULTS IN SEVERE, DE-NOVO CHARCOT-MARIE-TOOTH DISEASE

      Human genetics
    35. TIMMERMAN V; LOFGREN A; LEGUERN E; LIANG P; DEJONGHE P; MARTIN JJ; VERHALLE D; ROBBERECHT W; GOUIDER R; BRICE A; VANBROECKHOVEN C
      MOLECULAR-GENETIC ANALYSIS OF THE 17P11.2 REGION IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)

      Human genetics
    36. BELLONE E; SCHENONE A; MANCARDI G; NICHOLSON GA; ABBRUZZESE M; AJMAR F; MANDICH P
      USE OF COSH1 PROBE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - A RELIABLE GENETIC TEST FOR DEMONSTRATION OF IDENTICAL SIZE OF 17P11.2 DELETION IN UNRELATED PATIENTS

      Neuroscience letters
    37. SANDVIG A
      NEUROGLIA - KETTENMANN,H, RANSOM,BR

      Trends in neurosciences
    38. KOEHLER NKU; MARTIN R; WIETHOLTER H
      THE ANTIBODY REPERTOIRE IN EXPERIMENTAL ALLERGIC NEURITIS - EVIDENCE FOR PMP-22 AS A NOVEL NEURITOGEN

      Journal of neuroimmunology
    39. KILLIAN JM; TIWARI PS; JACOBSON S; JACKSON RD; LUPSKI JR
      LONGITUDINAL-STUDIES OF THE DUPLICATION FORM OF CHARCOT-MARIE-TOOTH POLYNEUROPATHY

      Muscle & nerve
    40. NEUMANN Y; TOREN A; RECHAVI G; SEIFRIED B; SHOHAM NG; MANDEL M; KENET G; SHARON N; SADEH M; NAVON R
      VINCRISTINE TREATMENT TRIGGERING THE EXPRESSION OF ASYMPTOMATIC CHARCOT-MARIE-TOOTH DISEASE

      Medical and pediatric oncology
    41. TIMMERMAN V; DEJONGHE P; SPOELDERS P; SIMOKOVIC S; LOFGREN A; NELIS E; VANCE J; MARTIN JJ; VANBROECKHOVEN C
      LINKAGE AND MUTATION ANALYSIS OF CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-2 FAMILIES WITH CHROMOSOMES 1P35-P36 AND XQ13

      Neurology
    42. HIROTA N; KAJI R; YOSHIKAWA H; NISHIMURA T; IKEDA T; YANAGIHARA T; KIMURA J
      HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - DISTINGUISHING CLINICAL AND ELECTROPHYSIOLOGICAL FEATURES AMONG PATIENTS WITH MULTIPLE ENTRAPMENT NEUROPATHY

      Journal of the neurological sciences
    43. HANEY C; SNIPES GJ; SHOOTER EM; SUTER U; GARCIA C; GRIFFIN JW; TRAPP BD
      ULTRASTRUCTURAL DISTRIBUTION OF PMP22 IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

      Journal of neuropathology and experimental neurology
    44. LUPSKI JR
      DNA DIAGNOSTICS FOR CHARCOT-MARIE-TOOTH DISEASE AND RELATED INHERITEDNEUROPATHIES

      Clinical chemistry
    45. LOPES J; LEGUERN E; GOUIDER R; TARDIEU S; ABBAS N; BIROUK N; GUGENHEIM M; BOUCHE P; AGID Y; BRICE A; ARNEBES MC; BRICHET B; CHAPON F; CHAZOT G; CLAVELOU P; DESNUELLE C; DIRAISON P; DUBAS F; GONNAUD PM; HURTEVENT JF; KUNTZER T; LAGUENY A; MABIN D; MAYER M; OCHSNER F; OLLAGNONROMAN E; POUGET J; TABARAUD F; VALLAT JM; VANDENBERGHE A
      RECOMBINATION HOT-SPOT IN A 3.2-KB REGION OF THE CHARCOT-MARIE-TOOTH TYPE 1A REPEAT SEQUENCES - NEW TOOLS FOR MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND OF CHARCOT-MARIE-TOOTH TYPE 1A

      American journal of human genetics
    46. 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
    47. PARMANTIER E; CABON F; BRAUN C; DURSO D; MULLER HW; ZALC B
      PERIPHERAL MYELIN PROTEIN-22 IS EXPRESSED IN RAT AND MOUSE-BRAIN AND SPINAL-CORD MOTONEURONS

      European journal of neuroscience
    48. BAECHNER D; LIEHR T; HAMEISTER H; ALTENBERGER H; GREHL H; SUTER U; RAUTENSTRAUSS B
      WIDESPREAD EXPRESSION OF THE PERIPHERAL MYELIN PROTEIN-22 GENE (PMP22) IN NEURAL AND NONNEURAL TISSUES DURING MURINE DEVELOPMENT

      Journal of neuroscience research
    49. 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
    50. 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
    51. BENHAMIDA M; BENOTHMANE K; BELAL S; HENTATI F
      CHARCOT-MARIE-TOOTH DISEASE - A SINGLE EN TITY

      Revue neurologique
    52. 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
    53. BORT S; SEVILLA T; VILCHEZ JJ; PRIETO F; PALAU F
      THE DIAGNOSIS AND PREVALENCE OF DUPLICATI ON OF THE CMT1A LOCUS IN CHARCOT-MARIE-TOOTH TYPE-I DISEASE

      Medicina Clinica
    54. UMEHARA F; KIWAKI T; YOSHIKAWA H; NISHIMURA T; NAKAGAWA M; MATSUMOTO W; HASHIMOTO K; IZUMO S; ARIMURA Y; ARIMURA K; KURIYAMA M; OSAME M
      DELETION IN CHROMOSOME 17P11.2 INCLUDING THE PERIPHERAL MYELIN PROTEIN-22 (PMP-22) GENE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSUREPALSIES

      Journal of the neurological sciences
    55. NICHOLSON G
      MYELIN GENE DOSAGE AND MUTATION IN THE HEREDITARY MOTOR AND SENSORY NEUROPATHIES - A REVIEW

      Journal of Neurology, Neurosurgery and Psychiatry
    56. GUZZETTA V; SANTORO L; GASPARORIPPA P; RAGNO M; VITA G; CARUSO G; ANDRIA G
      CHARCOT-MARIE-TOOTH-DISEASE - MOLECULAR CHARACTERIZATION OF PATIENTS FROM CENTRAL AND SOUTHERN ITALY

      Clinical genetics
    57. MIYAWAKI T; SOHMA O; SUZUKI Y; TAKASHIMA S
      DEVELOPMENTAL IMMUNOHISTOCHEMISTRY OF THE 22 KDA PEROXISOMAL MEMBRANE-PROTEIN IN THE HUMAN BRAIN

      Brain research
    58. 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
    59. ELLIS D; MALCOLM S
      PROTEOLIPID PROTEIN GENE DOSAGE EFFECT IN PELIZAEUS-MERZBACHER DISEASE

      Nature genetics
    60. NICHOLSON GA; VALENTIJN LJ; CHERRYSON AK; KENNERSON ML; BRAGG TL; DEKROON RM; ROSS DA; POLLARD JD; MCLEOD JG; BOLHUIS PA; BAAS F
      A FRAME-SHIFT MUTATION IN THE PMP22 GENE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

      Nature genetics
    61. 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
    62. IONASESCU V; SEARBY C; IONASESCU R
      POINT MUTATIONS OF THE CONNEXIN32 (GJB1) GENE IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY

      Human molecular genetics
    63. VERHALLE D; LOFGREN A; NELIS E; DEHAENE I; THEYS P; LAMMENS M; DOM R; VANBROECKHOVEN C; ROBBERECHT W
      DELETION IN THE CMT1A LOCUS ON CHROMOSOME 17P11.2 IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

      Annals of neurology
    64. DYCK PJ; LITCHY WJ; MINNERATH S; BIRD TD; CHANCE PF; SCHAID DJ; ARONSON AE
      HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH DIAPHRAGM AND VOCAL CORDPARESIS

      Annals of neurology
    65. YOSHIKAWA H; NISHIMURA T; NAKATSUJI Y; FUJIMURA H; HIMORO M; HAYASAKA K; SAKODA S; YANAGIHARA T
      ELEVATED EXPRESSION OF MESSENGER-RNA FOR PERIPHERAL MYELIN PROTEIN-22IN BIOPSIED PERIPHERAL-NERVES OF PATIENTS WITH CHARCOT-MARIE-TOOTH-DISEASE TYPE 1A

      Annals of neurology
    66. NELIS E; TIMMERMAN V; DEJONGHE P; VANDENBERGHE A; PHAMDINH D; DAUTIGNY A; MARTIN JJ; VANBROECKHOVEN C
      RAPID SCREENING OF MYELIN GENES IN CMT1 PATIENTS BY SSCP ANALYSIS - IDENTIFICATION OF NEW MUTATIONS AND POLYMORPHISMS IN THE P-0 GENE

      Human genetics
    67. LEGUERN E; STURTZ F; GUGENHEIM M; GOUIDER R; BONNEBOUCHE C; RAVISE N; GONNAUD PM; TARDIEU S; BOUCHE P; CHAZOT G; AGID Y; VANDENBERGHE A; BRICE A
      DETECTION OF DELETION WITHIN 17P11.2 IN 7 FRENCH FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)

      Cytogenetics and cell genetics
    68. HOOGENDIJK JE; DEVISSER M; BOLHUIS PA; HART AAM; DEVISSER BWO
      HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-I - CLINICAL AND NEUROGRAPHICAL FEATURES OF THE 17P DUPLICATION SUBTYPE

      Muscle & nerve
    69. STEPHEN DA; BUIST NRM; CHITTENDEN AB; RICKER K; ZHOU J; HOFFMAN EP
      A RIPPLING MUSCLE DISEASE GENE IS LOCALIZED TO 1Q41 - EVIDENCE FOR MULTIPLE GENES

      Neurology
    70. NELIS E; TIMMERMAN V; DEJONGHE P; MUYLLE L; MARTIN JJ; VANBROECKHOVEN C
      LINKAGE AND MUTATION ANALYSIS IN AN EXTENDED FAMILY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

      Journal of Medical Genetics
    71. 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
    72. ROA BB; DYCK PJ; MARKS HG; CHANCE PF; LUPSKI JR
      DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PERIPHERAL MYELIN PROTEIN 22 (PMP22) GENE

      Nature genetics
    73. PALAU F; LOFGREN A; DEJONGHE P; BORT S; NELIS E; SEVILLA T; MARTIN JJ; VILCHEZ J; PRIETO F; VANBROECKHOVEN C
      ORIGIN OF THE DE-NOVO DUPLICATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE1A - UNEQUAL NONSISTER CHROMATID EXCHANGE DURING SPERMATOGENESIS

      Human molecular genetics
    74. HAYASAKA K; HIMORO M; TAKADA G; TAKAHASHI E; MINOSHIMA S; SHIMIZU N
      STRUCTURE AND LOCALIZATION OF THE GENE ENCODING HUMAN PERIPHERAL MYELIN PROTEIN-2 (PMP2)

      Genomics
    75. HAYASAKA K; HIMORO M; WANG YM; TAKATA M; MINOSHIMA S; SHIMIZU N; MIURA M; UYEMURA K; TAKADA G
      STRUCTURE AND CHROMOSOMAL LOCALIZATION OF THE GENE ENCODING THE HUMANMYELIN PROTEIN ZERO (MPZ)

      Genomics
    76. MARIMAN ECM; GABREELSFESTEN AAWM; VANBEERSUM SEC; JONGEN PJH; ROPERS HH; GABREELS FJM
      GENE FOR HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) MAPS TO CHROMOSOME-17 AT OR CLOSE TO THE LOCUS FOR HMSN TYPE-1

      Human genetics
    77. LUPSKI JR; CHANCE PF; GARCIA CA
      INHERITED PRIMARY PERIPHERAL NEUROPATHIES - MOLECULAR-GENETICS AND CLINICAL IMPLICATIONS OF CMT1A AND HNPP

      JAMA, the journal of the American Medical Association
    78. UMEHARA F; TAKENAGA S; NAKAGAWA M; TAKAHASHI K; IZUMO S; MATSUMURO K; SAKOTA S; NISHIMURA T; YOSHIKAWA H; OSAME M
      DOMINANTLY INHERITED MOTOR AND SENSORY NEUROPATHY WITH EXCESSIVE MYELIN FOLDING COMPLEX

      Acta Neuropathologica
    79. BASCLES L; BONNET J; GARBAY B
      EXPRESSION OF THE PMP-22 GENE IN TREMBLER MUTANT MICE - COMPARISON WITH THE OTHER MYELIN PROTEIN GENES

      Developmental neuroscience


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Documento generato il 08/08/20 alle ore 07:32:26