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La ricerca find articoli where soggetti phrase all words 'FAMILIAL AMYLOIDOTIC POLYNEUROPATHY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 128 riferimenti
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    1. Hamilton, JA; Benson, MD
      Transthyretin: a review from a structural perspective

      CELLULAR AND MOLECULAR LIFE SCIENCES
    2. Eneqvist, T; Sauer-Eriksson, AE
      Structural distribution of mutations associated with familial amyloidotic polyneuropathy in human transthyretin

      AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
    3. Munar-Ques, M; Dominguez, JML; Viader-Farre, C; Moreira, P; Saraiva, MJM
      Two Spanish sibs with familial amyloidotic polyneuropathy homozygous for the V30M-TTR gene

      AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
    4. Goldrick, MM
      RNase cleavage-based methods for mutation/SNP detection, past and present

      HUMAN MUTATION
    5. Schneider, F; Hammarstrom, P; Kelly, JW
      Transthyretin slowly exchanges subunits under physiological conditions: A convenient chromatographic method to study subunit exchange in oligomeric proteins

      PROTEIN SCIENCE
    6. Palha, JA; Moreira, P; Olofsson, A; Lundgren, E; Saraiva, MJ
      Antibody recognition of amyloidogenic transthyretin variants in serum of patients with familial amyloidotic polyneuropathy

      JOURNAL OF MOLECULAR MEDICINE-JMM
    7. Sousa, MM; Du Yan, S; Fernandes, R; Guimaraes, A; Stern, D; Saraiva, MJ
      Familial amyloid polyneuropathy: Receptor for advanced glycation end products-dependent triggering of neuronal inflammatory and apoptotic pathways

      JOURNAL OF NEUROSCIENCE
    8. Nehra, A; Moreland, RB
      Neurologic erectile dysfunction

      UROLOGIC CLINICS OF NORTH AMERICA
    9. Tome, L; Ferrao, J; Furtado, E; Geraldes, J; Mota, O; Oliveira, F; Perdigoto, R; Viana, J; Cipriano, A; Furtado, L
      Sequential liver transplantation: 27 cases in 25 patients

      TRANSPLANTATION PROCEEDINGS
    10. Terazaki, H; Ando, Y; Nakamura, M; Obayashhi, K; Misumi, S; Shoji, S; Yamashita, S; Nakagawa, K; Ishizaki, T; Suhr, O; Uemoto, S; Inomata, Y; Tanaka, K
      Variant transthyretin in blood circulation can transverse the blood-cerebrospinal barrier: Qualitative analyses of transthyretin metabolism in sequential liver transplantation

      TRANSPLANTATION
    11. Ritch, R; Schlotzer-Schrehardt, U
      Exfoliation syndrome

      SURVEY OF OPHTHALMOLOGY
    12. Figueras, J; Munar-Ques, M; Pares, D; Torras, J; Fabregat, J; Rafecas, A; Ramos, E; Lama, C; Jaurrieta, E
      Sequential liver transplantation: description of the first three patients in Spain

      MEDICINA CLINICA
    13. Tanaka, K; Yamada, T; Ohyagi, Y; Asahara, H; Horiuchi, I; Kira, J
      Suppression of transthyretin expression by ribozymes: a possible therapy for familial amyloidotic polyneuropathy

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    14. Sousa, MM; Saraiva, MJ
      Internalization of transthyretin - Evidence of a novel yet unidentified receptor-associated protein (RAP)-sensitive receptor

      JOURNAL OF BIOLOGICAL CHEMISTRY
    15. Saraiva, MJM
      Transthyretin amyloidosis: a tale of weak interactions

      FEBS LETTERS
    16. Obayashi, K; Ando, Y; Terazaki, H; Yamashita, T; Nakamura, M; Suga, M; Uchino, M; Ando, M
      Mechanism of anemia associated with autonomic dysfunction in rats

      AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL
    17. Tzakis, AG
      Let's play dominos

      LIVER TRANSPLANTATION
    18. Munar-Ques, M; Salva-Ladaria, L; Mulet-Perera, P; Sole, M; Lopez-Andreu, FR; Saraiva, MJM
      Vitreous amyloidosis after liver transplantation in patients with familialamyloid polyneuropathy: ocular synthesis of mutant transthyretin

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    19. Ando, Y; Ohtsu, Y; Terazaki, H; Kibayashi, K; Nakamura, M; Ando, E; Matsunaga, N; Obayashi, K; Uchino, M; Ando, M; Tsunenari, S
      Japanese monozygotic twins with familial amyloidotic polyneuropathy (FAP) (ATTR Val30Met)

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    20. Janunger, T; Anan, I; Holmgren, G; Lovheim, O; Ohlsson, PI; Suhr, OB; Tashima, K
      Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    21. Nakamura, M; Asl, KH; Benson, MD
      A novel variant of transthyretin (Gln89Lys) associated with familial amyloidotic polyneuropathy

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    22. Connors, LH; Richardson, AM; Theberge, R; Costello, CE
      Tabulation of transthyretin (TTR) variants as of 1/1/2000

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    23. Solaro, C; Schenone, A; Di Sapio, A; Pradotto, L; Mancardi, GL; Primavera, A; Mauro, A
      An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy

      NEUROMUSCULAR DISORDERS
    24. Sakashita, N; Ando, Y; Obayashi, K; Terazaki, H; Yamashita, T; Takei, M; Kinjo, M; Takahashi, K
      Familial amyloidotic polyneuropathy (ATTR Ser50Ile): the first autopsy case report

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    25. Azoulay, D; Bismuth, H
      Living donor in liver transplantation. Present and future alternatives

      GASTROENTEROLOGIE CLINIQUE ET BIOLOGIQUE
    26. Shnyrov, VL; Villar, E; Zhadan, GG; Sanchez-Ruiz, JM; Quintas, A; Saraiva, MJM; Brito, RMM
      Comparative calorimetric study of non-amyloidogenic and amyloidogenic variants of the homotetrameric protein transthyretin

      BIOPHYSICAL CHEMISTRY
    27. Redondo, C; Damas, AM; Saraiva, MJM
      Designing transthyretin mutants affecting tetrameric structure: implications in amyloidogenicity

      BIOCHEMICAL JOURNAL
    28. Obayashi, K; Ando, Y; Terazaki, H; Yamaskita, S; Nakagawa, K; Nakamura, M; Yamashita, T; Suga, M; Ishizaki, T; Uchino, M; Ando, M
      Effect of sildenafil citrate (Viagra) on erectile dysfunction in a patientwith familial amyloidotic polyneuropathy ATTR Val30Met

      JOURNAL OF THE AUTONOMIC NERVOUS SYSTEM
    29. Acosta, F; Moreno, J; Fuente, T; Diaz, J; Sansano, T; Palenciano, CG; Reche, M; Beltran, M; Rogues, V; Robles, R; Bueno, FS; Ramirez, P; Parrilla, P
      Influence of surgical technique on the plasma concentration of beta-endorphin during liver transplantation

      TRANSPLANTATION PROCEEDINGS
    30. Yamashita, T; Ando, Y; Suhr, OB; Nakamura, M; Sakashita, N; Ohlsson, PI; Terazaki, H; Obayashi, K; Uchino, M; Ando, M
      A new diagnostic procedure to detect unknown transthyretin (TTR) mutationsin familial amyloidotic polyneuropathy (FAP)

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    31. Hornberg, A; Eneqvist, T; Olofsson, A; Lundgren, E; Sauer-Eriksson, AE
      A comparative analysis of 23 structures of the amyloidogenic protein transthyretin

      JOURNAL OF MOLECULAR BIOLOGY
    32. Almeida, MR; Alves, IL; Terazaki, H; Ando, Y; Saraiva, MJ
      Comparative studies of two transthyretin variants with protective effects on familial amyloidotic polyneuropathy: TTR R104H and TTR T119M

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    33. Kishikawa, M; Nakanishi, T; Miyazaki, A; Shimizu, A; Kusaka, H; Fukui, M; Nishiue, T
      A new amyloidogenic transthyretin variant, [D38A], detected by electrospray ionization mass spectrometry

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    34. Palacios, SA; Bittencourt, PL; Cancado, ELR; Farias, AQ; Massarollo, PCB; Mies, S; Kalil, J; Goldberg, AC
      Familial amyloidotic polyneuropathy type 1 in Brazil is associated with the transthyretin Val30Met variant

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    35. Kishikawa, M; Nakanishi, T; Miyazaki, A; Shimizu, A
      Enhanced amyloidogenicity of sulfonated transthyretin in vitro, a hypothetical etiology of senile amyloidosis

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    36. Saraiva, MJM; Torres, MD; Serra, J; Ochoa, J
      A new transthyretin variant - ATTR Arg104Cys

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    37. Kishikawa, M; Nakanishi, T; Miyazaki, A; Shimizu, A
      A simple and reliable method of detecting variant transthyretins by multidimensional liquid chromatography coupled to electrospray ionization mass spectrometry

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    38. Carvalho, MJ; van den Meiracker, AH; Boomsma, F; Freitas, J; 't Veld, AJMI; Costa, O; de Freitas, AF
      Role of sympathetic nervous system in cyclosporine-induced rise in blood pressure

      HYPERTENSION
    39. Altland, K; Winter, P; Sauerborn, MK
      Electrically neutral microheterogeneity of human plasma transthyretin (prealbumin) detected by isoelectric focusing in urea gradients

      ELECTROPHORESIS
    40. Tashima, K; Ando, Y; Terazaki, H; Yoshimatsu, S; Suhr, OB; Obayashi, K; Yamashita, T; Ando, E; Uchino, M; Ando, M
      Outcome of liver transplantation for transthyretin amyloidosis: follow-up of Japanese familial amyloidotic polyneuropathy patients

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    41. Quintas, A; Saraiva, MJM; Brito, RMM
      The tetrameric protein transthyretin dissociates to a non-native monomer in solution - A novel model for amyloidogenesis

      JOURNAL OF BIOLOGICAL CHEMISTRY
    42. Devlin, J; O'Grady, J
      Indications for referral and assessment in adultliver transplantation: a clinical guideline

      GUT
    43. Terazaki, H; Ando, Y; Misumi, S; Nakamura, M; Ando, E; Matsunaga, N; Shoji, S; Okuyama, M; Ideta, H; Nakagawa, K; Ishizaki, T; Ando, M; Saraiva, MJM
      A novel compound heterozygote (FAP ATTR Arg104His/ ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    44. Propsting, MJ; Blaschke, M; Haas, RE; Genschel, J; Hedrich, HJ; Manns, MP; Schmidt, HHJ
      Inosine(15.1) hammerhead ribozymes for targeting the transthyretin-30 mutation

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    45. Theberge, R; Connors, L; Skinner, M; Skare, J; Costello, CE
      Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry

      ANALYTICAL CHEMISTRY
    46. Anan, I; El-Salhy, M; Ando, Y; Forsgren, S; Nyhlin, N; Terazaki, H; Sakashita, N; Suhr, OB
      Colonic enteric nervous system in patients with familial amyloidotic neuropathy

      ACTA NEUROPATHOLOGICA
    47. RIEDSTRA S; FERREIRA JPM; COSTA PMP
      STUDY OF AN ANTI-HUMAN TRANSTHYRETIN IMMUNOADSORBENT - INFLUENCE OF COUPLING CHEMISTRY ON BINDING-CAPACITY AND LIGAND LEAKAGE

      Journal of chromatography B. Biomedical sciences and applications
    48. INOUYE H; DOMINGUES FS; DAMAS AM; SARAIVA MJ; LUNDGREN E; SANDGREN O; KIRSCHNER DA
      ANALYSIS OF X-RAY-DIFFRACTION PATTERNS FROM AMYLOID OF BIOPSIED VITREOUS-HUMOR AND KIDNEY OF TRANSTHYRETIN (TTR) MET30 FAMILIAL AMYLOIDOTICPOLYNEUROPATHY (FAP) PATIENTS - AXIALLY ARRAYED TTR MONOMERS CONSTITUTE THE PROTOFILAMENT

      Amyloid (Carnforth)
    49. ANDO Y; SUHR O; ELSALHY M
      OXIDATIVE STRESS AND AMYLOIDOSIS

      Histology and histopathology
    50. TERAZAKI H; ANDO Y; YAMASHITA T; OBAYASHI K; NAKAMURA K; NAKAMURA M; YOSHIMATSU S; SUGA M; UCHINO M; ANDO M
      VISCERAL ORTHOSTATIC HYPOTENSION IN PATIENTS WITH SEVERE AUTONOMIC DYSFUNCTION

      Journal of the autonomic nervous system
    51. SAKASHITA N; ANDO Y; MARKLUND SL; NILSSON P; TASHIMA K; YAMASHITA T; TAKAHASHI K
      FAMILIAL AMYLOIDOTIC POLYNEUROPATHY TYPE-I WITH EXTRACELLULAR-SUPEROXIDE DISMUTASE MUTATION - A CASE-REPORT

      Human pathology
    52. TERAZAKI H; ANDO Y; SUHR O; OHLSSON PI; OBAYASHI K; YAMASHITA T; YOSHIMATSU S; SUGA M; UCHINO M; ANDO M
      POSTTRANSLATIONAL MODIFICATION OF TRANSTHYRETIN IN PLASMA

      Biochemical and biophysical research communications (Print)
    53. ALMEIDA MR; DAMAS AM; LANS MC; BROUWER A; SARAIVA MJ
      THYROXINE-BINDING TO TRANSTHYRETIN MET-119 - COMPARATIVE-STUDIES OF DIFFERENT HETEROZYGOTIC CARRIERS AND STRUCTURAL-ANALYSIS

      Endocrine
    54. HOLMGREN G; ANDO Y; WIKSTROM L; RYDH A; SUHR O
      DISCORDANT SYMPTOMS IN MONOZYGOTIC TWINS WITH FAMILIAL AMYLOIDOTIC POLYNEUROPATHY (FAP) (TTR-MET-30)

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    55. MUNARQUES M; COSTA PP; SARAIVA MJM; VIADERFARRE C; MUNARBERNAT C; CIFUENTESLUNA C; FORTEZAALBERTI JF
      FAMILIAL AMYLOIDOTIC POLYNEUROPATHY - TTR-MET-30 IN MAJORCA (SPAIN)

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    56. ELEBORG L; SUHR O; GUNNARSSON L
      FAMILIAL AMYLOIDOTIC POLYNEUROPATHY (FAP) - CARDIAC AND CIRCULATORY FUNCTION DURING ANESTHESIA FOR LIVER-TRANSPLANTATION

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    57. JACOBSON DR
      TRANSTHYRETIN EXON-1 - TO SCREEN OR NOT TO SCREEN - A SIMPLE SOLUTION

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    58. TAKAHASHI K; SAKASHITA N; ANDO Y; SUGA M; ANDO M
      LATE-ONSET TYPE-I FAMILIAL AMYLOIDOTIC POLYNEUROPATHY - PRESENTATION OF 3 AUTOPSY CASES IN COMPARISON WITH 19 AUTOPSY CASES OF THE ORDINARYTYPE

      Pathology international
    59. ALVES IL; ALTLAND K; ALMEIDA MR; WINTER P; SARAIVA MJM
      SCREENING AND BIOCHEMICAL-CHARACTERIZATION OF TRANSTHYRETIN VARIANTS IN THE PORTUGUESE POPULATION

      Human mutation
    60. TAKAOKA Y; TASHIRO F; YI S; MAEDA S; SHIMADA K; TAKAHASHI K; SAKAKI Y; YAMAMURA KI
      COMPARISON OF AMYLOID DEPOSITION IN 2 LINES OF TRANSGENIC MOUSE THAT MODEL FAMILIAL AMYLOIDOTIC POLYNEUROPATHY, TYPE-I

      Transgenic research
    61. ANDO Y; YAMASHITA T; NAKAMURA M; TANAKA Y; HASHIMOTO M; TASHIMA K; SUHR O; UEMURA Y; OBAYASHI K; TERAZAKI H; SUGA M; UCHINO M; ANDO M
      DOWN-REGULATION OF A HARMFUL VARIANT PROTEIN BY REPLACEMENT OF ITS NORMAL-PROTEIN

      Biochimica et biophysica acta. Molecular basis of disease
    62. SCHREIBER G; RICHARDSON SJ
      THE EVOLUTION OF GENE-EXPRESSION, STRUCTURE AND FUNCTION OF TRANSTHYRETIN

      Comparative biochemistry and physiology. B. Comparative biochemistry
    63. ANDO Y; SUHR O; YAMASHITA T; OHLSSON PI; HOLMGREN G; OBAYASHI K; TERAZAKI H; MAMBULE C; UCHINO M; ANDO M
      DETECTION OF DIFFERENT FORMS OF VARIANT TRANSTHYRETIN (MET30) IN CEREBROSPINAL-FLUID

      Neuroscience letters
    64. SHIRAISHI M; ANDO Y; MIZUTA H; NAKAMURA E; TAKAGI K; ANDO M
      CHARCOT KNEE ARTHROPATHY WITH ARTICULAR AMYLOID DEPOSITION IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY

      Scandinavian journal of rheumatology
    65. CARVALHO MJ; VANDENMEIRACKER AH; BOOMSMA F; MANINTVELD AJ; FREITAS J; COSTA O; DEFREITAS AF
      IMPROVED ORTHOSTATIC TOLERANCE IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHYWITH UNNATURAL NORADRENALINE PRECURSOR L-THREO-3,4-DIHYDROXYPHENYLSERINE

      Journal of the autonomic nervous system
    66. FURTADO A; TOME L; OLIVEIRA FJ; FURTADO E; VIANA J; PERDIGOTO R
      SEQUENTIAL LIVER-TRANSPLANTATION

      Transplantation proceedings
    67. DATE Y; NAKAZATO M; KANGAWA K; SHIRIEDA K; FUJIMOTO T; MATSUKURA S
      DETECTION OF 3 TRANSTHYRETIN GENE-MUTATIONS IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY BY ANALYSIS OF DNA EXTRACTED FROM FORMALIN-FIXED AND PARAFFIN-EMBEDDED TISSUES

      Journal of the neurological sciences
    68. QUINTAS A; SARAIVA MJM; BRITO RMM
      THE AMYLOIDOGENIC POTENTIAL OF TRANSTHYRETIN VARIANTS CORRELATES WITHTHEIR TENDENCY TO AGGREGATE IN SOLUTION

      FEBS letters
    69. ALVES IL; HAYS MT; SARAIVA MJM
      COMPARATIVE STABILITY AND CLEARANCE OF [MET30]TRANSTHYRETIN AND [MET119]TRANSTHYRETIN

      European journal of biochemistry
    70. HESSE UJ; TROISI R; MORTIER E; DECRUYENAERE J; DEHEMPTINNE B
      SEQUENTIAL ORTHOTOPIC LIVER-TRANSPLANTATI ON - DOMINO TRANSPLANTATION

      Chirurg
    71. LAI ZH; MCCULLOCH J; LASHUEL HA; KELLY JW
      GUANIDINE HYDROCHLORIDE-INDUCED DENATURATION AND REFOLDING OF TRANSTHYRETIN EXHIBITS A MARKED HYSTERESIS - EQUILIBRIA WITH HIGH KINETIC BARRIERS

      Biochemistry
    72. ALVES IL; JACOBSON DR; TORRES MF; HOLMGREN G; BUXBAUM J; SARAIVA MJM
      TRANSTHYRETIN SER6 AS A NEUTRAL POLYMORPHISM IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    73. CHEN X; YAN SD; FU J; EISENBERGER E; HERBERT J
      GENETIC ASSAY FOR MULTIMERIZATION OF WILD-TYPE AND MUTANT TRANSTHYRETIN

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    74. WIKSTROM L; BJERLE P; BOMAN K; HOLMGREN G; STEEN L
      L-THREO-DOPS TREATMENT OF ORTHOSTATIC HYPOTENSION IN SWEDISH PATIENTSWITH FAMILIAL AMYLOIDOTIC POLYNEUROPATHY (TTR-MET(30))

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    75. TENG MH; BUXBAUM JN
      TRANSGENIC MICE IN AMYLOID RESEARCH - AN INTERPRETIVE REVIEW

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    76. LIN QS; SU TS; LIU GQ; GU JR
      PURIFICATION OF TRANSTHYRETIN BY HIGH-PERFORMANCE AFFINITY-CHROMATOGRAPHY FROM HUMAN PLASMA

      Preparative biochemistry & biotechnology
    77. BONIFACIO MJ; SAKAKI Y; SARAIVA MJ
      IN-VITRO AMYLOID FIBRIL FORMATION FROM TRANSTHYRETIN - THE INFLUENCE OF IONS AND THE AMYLOIDOGENICITY OF TTR VARIANTS

      Biochimica et biophysica acta. Molecular basis of disease
    78. DAMAS AM; RIBEIRO S; LAMZIN VS; PALHA JA; SARAIVA MJ
      STRUCTURE OF VAL122ILE VARIANT TRANSTHYRETIN - A CARDIOMYOPATHIC MUTANT

      Acta crystallographica. Section D, Biological crystallography
    79. ALMEIDA MR; SARAIVA MJ
      THYROXINE-BINDING TO TRANSTHYRETIN (TTR) VARIANTS 2 VARIANTS (TTR PRO-55 AND TTR MET-111) WITH A PARTICULARLY LOW BINDING-AFFINITY

      European journal of endocrinology
    80. ANDO Y; ASAHARA K; OBAYASHI K; SUHR O; YONEMITSU M; YAMASHITA T; TASHIMA K; UCHINO M; ANDO M
      AUTONOMIC DYSFUNCTION AND ANEMIA IN NEUROLOGIC DISORDERS

      Journal of the autonomic nervous system
    81. ABE M; ANDO Y; HIGASHI K; KANO T
      NON-NEUROGENIC PERIODIC FLUCTUATIONS IN HEART-RATE AND VASOMOTION APPEARING IN FAMILIAL AMYLOID POLYNEUROPATHY (FAP) TYPE-I (MET30)

      Journal of the autonomic nervous system
    82. ANDO Y; SUHR O; TASHIMA K; YAMASHITA T; ANDO M
      WHAT IS GENETIC ANTICIPATION

      Lancet
    83. FERLINI A; SALVI F; UNCINI A; ELCHAMI J; WINTER P; ALTLAND K; REPETTO M; LITTARDI M; CAMPOLEONI A; VEZZONI P; PATROSSO MC
      HOMOZYGOSITY AND HETEROZYGOSITY FOR THE TRANSTHYRETIN LEU64 MUTATION - CLINICAL, BIOCHEMICAL AND MOLECULAR FINDINGS

      Clinical genetics
    84. DAMAS A; SEBASTIAO MP; DOMINGUES FS; COSTA PP; SARAIVA MJ
      STRUCTURAL STUDIES ON FAP FIBRILS - REMOVAL OF CONTAMINANTS IS ESSENTIAL FOR THE INTERPRETATION OF X-RAY DATA

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    85. SUHR O; HOLMGREN G
      DIFFICULTIES IN CLINICAL-DIAGNOSIS AND PREDICTION OF OUTCOME IN PATIENTS WITH THE TRANSTHYRETIN MET-30 MUTATION - REPORT OF 2 CASES

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    86. WAITS RP; UEMICHI T; BENSON MD
      HAPLOTYPE ANALYSIS OF THE TRANSTHYRETIN GENE - EVIDENCE FOR MULTIPLE RECURRENCE OF THE MET30 MUTATION IN THE CAUCASIAN POPULATION

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    87. MURAKAMI T; UCHINO M; ANDO M
      GENETIC ABNORMALITIES AND PATHOGENESIS OF FAMILIAL AMYLOIDOTIC POLYNEUROPATHY

      Pathology international
    88. SARAIVA MJM
      TRANSTHYRETIN MUTATIONS IN HEALTH AND DISEASE

      Human mutation
    89. HARDING AE
      MOLECULAR-GENETICS OF PERIPHERAL NEUROPATHIES

      Bailliere's clinical neurology
    90. NEUNDORFER B
      HEREDITARY NEUROPATHIES

      Nervenheilkunde
    91. HORIE K; MAEDA S; NISHIGUCHI S; GOTTESMAN ME; SHIMADA K
      A REPLACEMENT VECTOR USED TO INTRODUCE SUBTLE MUTATIONS INTO MOUSE GENES

      Gene
    92. ALMEIDA MR; AOYAMAOISHI N; SAKAKI Y; HOLMGREN G; ULF D; FERLINI A; SALVI F; MUNARQUES M; BENSON MD; SKINNER M; COSTA PP; SARAIVA MJ
      HAPLOTYPE ANALYSIS OF COMMON TRANSTHYRETIN MUTATIONS

      Human genetics
    93. WOLF U
      THE GENETIC CONTRIBUTION TO THE PHENOTYPE

      Human genetics
    94. NAKATA T; SHIMAMOTO K; YONEKURA S; KOBAYASHI N; SUGIYAMA T; IMAI K; IIMURA O
      CARDIAC SYMPATHETIC DENERVATION IN TRANSTHYRETIN-RELATED FAMILIAL AMYLOIDOTIC POLYNEUROPATHY - DETECTION WITH IODINE-123-MIBG

      The Journal of nuclear medicine
    95. SANDGREN O
      OCULAR AMYLOIDOSIS, WITH SPECIAL REFERENCE TO THE HEREDITARY FORMS WITH VITREOUS INVOLVEMENT

      Survey of ophthalmology
    96. CIULLA TA; TOLENTINO F; MORROW JF; DRYJA TP
      VITREOUS AMYLOIDOSIS IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY - REPORT OF A CASE WITH THE VAL30MET TRANSTHYRETIN MUTATION

      Survey of ophthalmology
    97. DRUGGE U; HOLMBERG M; HOLMGREN G; ALMAY BGL; LINDERHOLM H
      HEREDITARY MYOPATHY WITH LACTIC-ACIDOSIS, SUCCINATE-DEHYDROGENASE ANDACONITASE DEFICIENCY IN NORTHERN SWEDEN - A GENEALOGICAL STUDY

      Journal of Medical Genetics
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ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/02/20 alle ore 21:12:02