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    1. Hegele, RA
      Molecular basis of partial lipodystrophy and prospects for therapy

      TRENDS IN MOLECULAR MEDICINE
    2. Chen, FS; Yu, G; Arawaka, S; Nishimura, M; Kawarai, T; Yu, H; Tandon, A; Supala, A; Song, YQ; Rogaeva, E; Milman, P; Sato, C; Yu, C; Janus, C; Lee, J; Song, LX; Zhang, LL; Fraser, PE; St George-Hyslop, PH
      Nicastrin binds to membrane tethered Notch

      NATURE CELL BIOLOGY
    3. De Strooper, B; Annaert, W
      Presenilins and the intramembrane proteolysis of proteins: facts and fiction

      NATURE CELL BIOLOGY
    4. Huse, JT; Doms, RW
      Neurotoxic traffic: Uncovering the mechanics of amyloid production in Alzheimer's disease

      TRAFFIC
    5. Burke, B; Mounkes, LC; Stewart, C
      The nuclear envelope in muscular dystrophy and cardiovascular diseases

      TRAFFIC
    6. Riise, R; Storhaug, K; Brondum-Nielsen, K
      Rieger syndrome is associated with PAX6 deletion

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    7. Zubenko, GS; Hughes, HB; Stiffler, JS
      D10S1423 identifies a susceptibility locus for Alzheimer's disease in a prospective, longitudinal, double-blind study of asymptomatic individuals

      MOLECULAR PSYCHIATRY
    8. Jhee, S; Shiovitz, T; Crawford, AW; Cutler, NR
      beta-amyloid therapies in Alzheimer's disease

      EXPERT OPINION ON INVESTIGATIONAL DRUGS
    9. Haider, MZ; Devarajan, LV; Al-Essa, M; Srivastva, BS; Kumar, H; Azad, R; Rashwan, N
      Retinopathy of prematurity: Mutations in the Norrie disease gene and the risk of progression to advanced stages

      PEDIATRICS INTERNATIONAL
    10. Waters, PJ; Scriver, CR; Parniak, MA
      Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: Evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia

      MOLECULAR GENETICS AND METABOLISM
    11. Gjetting, T; Romstad, A; Haavik, J; Knappskog, PM; Acosta, AX; Silva, WA; Zago, MA; Guldberg, P; Guttler, F
      A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics

      MOLECULAR GENETICS AND METABOLISM
    12. Westphal, V; Enns, GM; McCracken, MF; Freeze, HH
      Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry

      MOLECULAR GENETICS AND METABOLISM
    13. Gjetting, T; Petersen, M; Guldberg, P; Guttler, F
      In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: Correlation with metabolic phenotypes and susceptibility toward protein aggregation

      MOLECULAR GENETICS AND METABOLISM
    14. Jakobs, PM; Hanson, EL; Crispell, KA; Toy, W; Keegan, H; Schilling, K; Icenogle, TB; Litt, M; Hershberger, RE
      Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

      JOURNAL OF CARDIAC FAILURE
    15. Dvorakova, L; Storkanova, G; Unterrainer, G; Hujova, J; Kmoch, S; Zeman, J; Hrebicek, M; Berger, J
      Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acidexchange

      HUMAN MUTATION
    16. Mounkes, LC; Burke, B; Stewart, CL
      The A-type lamins - Nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases

      TRENDS IN CARDIOVASCULAR MEDICINE
    17. Korovaitseva, GI; Sherbatich, TV; Selezneva, NV; Gavrilova, SI; Golimbet, VE; Voskresenskaya, NI; Rogaev, EI
      Genetic association between the apolipoprotein E (APOE) gene and differentforms of Alzheimer's disease

      RUSSIAN JOURNAL OF GENETICS
    18. Prince, JA; Feuk, L; Sawyer, SL; Gottfries, J; Ricksten, A; Nagga, K; Bogdanovic, N; Blennow, K; Brookes, AJ
      Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease

      EUROPEAN JOURNAL OF HUMAN GENETICS
    19. Holt, I; Clements, L; Manilal, S; Brown, SC; Morris, GE
      The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

      EUROPEAN JOURNAL OF HUMAN GENETICS
    20. Dos Santos, MR; Vieira, EM; Lima, MR
      Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy

      GENETIC COUNSELING
    21. Heiss, NS; Megarbane, A; Klauck, SM; Kreuz, FR; Makhoul, E; Majewski, F; Poustka, A
      One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC)

      GENETIC COUNSELING
    22. Nathanson, KL; Weber, BL
      'Other' breast cancer susceptibility genes: searching for more holy grail

      HUMAN MOLECULAR GENETICS
    23. Miller, MP; Kumar, S
      Understanding human disease mutations through the use of interspecific genetic variation

      HUMAN MOLECULAR GENETICS
    24. Aradhya, S; Woffendin, H; Jakins, T; Bardaro, T; Esposito, T; Smahi, A; Shaw, C; Levy, M; Munnich, A; D'Urso, M; Lewis, RA; Kenwrick, S; Nelson, DL
      A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

      HUMAN MOLECULAR GENETICS
    25. Politano, L; Nigro, V; Passamano, L; Petretta, V; Comi, LI; Papparella, S; Nigro, G; Rambaldi, PF; Raia, P; Pini, A; Mora, M; Giugliano, MAM; Esposito, MG; Nigro, G
      Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

      NEUROMUSCULAR DISORDERS
    26. Porter, JD; Merriam, AP; Hack, AA; Andrade, FH; McNally, EM
      Extraocular muscle is spared despite the absence of an intact sarcoglycan complex in gamma- or delta-sarcoglycan-deficient mice

      NEUROMUSCULAR DISORDERS
    27. Olby, NJ; Sharp, NJH; Anderson, LVB; Kunkel, LM; Bonnemann, CG
      Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers

      NEUROMUSCULAR DISORDERS
    28. Lajic, S; Robins, T; Krone, N; Schwarz, HP; Wedell, A
      CYP21 mutations in simple virilizing congenital adrenal hyperplasia

      JOURNAL OF MOLECULAR MEDICINE-JMM
    29. Imaizumi, K; Miyoshi, K; Katayama, T; Yoneda, T; Taniguchi, M; Kudo, T; Tohyama, M
      The unfolded protein response and Alzheimer's disease

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    30. Yamaguchi, K; Arai, Y; Kanda, Y; Akagi, K
      Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanesepopulation in relation to toxicity to 5-fluorouracil

      JAPANESE JOURNAL OF CANCER RESEARCH
    31. Annaert, WG; Esselens, C; Baert, V; Boeve, C; Snellings, G; Cupers, P; Craessaerts, K; De Strooper, B
      Interaction with telencephalin and the amyloid precursor protein predicts a ring structure for presenilins

      NEURON
    32. Bertram, L; Tanzi, RE
      Dancing in the dark? The status of late-onset Alzheimer's disease genetics

      JOURNAL OF MOLECULAR NEUROSCIENCE
    33. Wolfe, MS
      gamma-secretase inhibitors as molecular probes of presenilin function

      JOURNAL OF MOLECULAR NEUROSCIENCE
    34. Vainzof, M; Anderson, LVB; McNally, EM; Davis, DB; Faulkner, G; Valle, G; Moreira, ES; Pavanello, RCM; Passos-Bueno, MR; Zatz, M
      Dysferlin protein analysis in limb-girdle muscular dystrophies

      JOURNAL OF MOLECULAR NEUROSCIENCE
    35. Melo, JV; Kumberova, A; van Dijk, AG; Goldman, JM; Yuille, MR
      Investigation on the role of the ATM gene in chronic myeloid leukaemia

      LEUKEMIA
    36. Mumm, S; Jones, J; Finnegan, P; Whyte, MP
      Hypophosphatasia: Molecular diagnosis of Rathbun's original case

      JOURNAL OF BONE AND MINERAL RESEARCH
    37. Orimo, H; Girschick, HJ; Goseki-Sone, M; Ito, M; Oda, K; Shimada, T
      Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia

      JOURNAL OF BONE AND MINERAL RESEARCH
    38. Leboulleux, S; Gaston, V; Boulle, N; Le Bouc, Y; Gicquel, C
      Loss of heterozygosity at the mannose 6-phosphate/insulin-like growth factor 2 receptor locus: a frequent but late event in adrenocortical tumorigenesis

      EUROPEAN JOURNAL OF ENDOCRINOLOGY
    39. Lia-Baldini, AS; Muller, F; Taillandier, A; Gibrat, JF; Mouchard, M; Robin, B; Simon-Bouy, B; Serre, JL; Aylsworth, AS; Bieth, E; Delanote, S; Freisinger, P; Hu, JCC; Krohn, HP; Nunes, ME; Mornet, E
      A molecular approach to dominance in hypophosphatasia

      HUMAN GENETICS
    40. Knight, SW; Vulliamy, TJ; Morgan, B; Devriendt, K; Mason, PJ; Dokal, I
      Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

      HUMAN GENETICS
    41. Oldenburg, J; Kriz, K; Wuillemin, WA; Maly, FE; von Felten, A; Siegemund, A; Keeling, DM; Baker, P; Chu, K; Konkle, BA; Lammle, B; Albert, T
      Genetic predisposition to bleeding during oral anticoagulant therapy: Evidence for common founder mutations (FIXVal-10 and FIXThr-10) and an independent CpG hotspot mutation (FIXThr-10)

      THROMBOSIS AND HAEMOSTASIS
    42. Bestmann, L; Zuger, M; Oldenburg, J; Buhler, D; Maly, FE
      Coagulation factor IX propeptide mutations causing coumarin hypersensitivity: Identification of female Alanine-10 valine heterozygotes

      THROMBOSIS AND HAEMOSTASIS
    43. Martins, RN; Taddei, K; Kendall, C; Evin, G; Bates, KA; Harvey, AR
      Altered expression of apolipoprotein E, amyloid precursor protein and presenilin-1 is associated with chronic reactive gliosis in rat cortical tissue

      NEUROSCIENCE
    44. Kostyszyn, B; Cowburn, RF; Seiger, A; Kjaeldgaard, A; Sundstrom, E
      Expression of presenilin-1 and notch-1 receptor in human embryonic CNS

      NEUROSCIENCE
    45. Houlden, H; Crook, R; Dolan, RJ; McLaughlin, J; Revesz, T; Hardy, J
      A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies

      NEUROSCIENCE LETTERS
    46. Queralt, R; Ezquerra, M; Castellvi, M; Lleo, A; Blesa, R; Oliva, R
      Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain

      NEUROSCIENCE LETTERS
    47. Osterziel, KJ; Scheffold, T; Perrot, A; Dietz, R
      The genetics of dilated cardiomyopathy

      ZEITSCHRIFT FUR KARDIOLOGIE
    48. Urganci, N; Erkan, T; Serdaroglu, P; Ozcelik, G; Dogan, S; Kayaalp, N
      A rare cause of high transaminasemia: Autosomal muscle dystrophy with gamma sarcoglycan

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    49. Smith, CIE; Islam, TC; Mattsson, PT; Mohamed, AJ; Nore, BF; Vihinen, M
      The Tec family of cytoplasmic tyrosine kinases: mammalian Btk, Bmx, Itk, Tec, Txk and homologs in other species

      BIOESSAYS
    50. Ishii, K; Lippa, C; Tomiyama, T; Miyatake, F; Ozawa, K; Tamaoka, A; Hasegawa, T; Fraser, PE; Shoji, S; Nee, LE; Pollen, DA; St George-Hyslop, PH; Ii, K; Ohtake, T; Kalaria, RN; Rossor, MN; Lantos, PL; Cairns, NJ; Farrer, LA; Mori, H
      Distinguishable effects of Presenilin-1 and APP717 mutations on amyloid plaque deposition

      NEUROBIOLOGY OF AGING
    51. Moises, RS; Reis, AF; Morel, V; Chacra, AR; Dib, SA; Bellanne-Chantelot, C; Velho, G
      Prevalence of maturity-onset diabetes of the young mutations in Brazilian families with autosomal-dominant early-onset type 2 diabetes

      DIABETES CARE
    52. Arango, D; Cruts, M; Torres, O; Backhovens, H; Serrano, ML; Villareal, E; Montanes, P; Matallana, D; Cano, C; Van Broeckhoven, C; Jacquier, M
      Systematic genetic study of Alzheimer disease in Latin America: Mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    53. Franz, WM; Muller, OJ; Katus, HA
      Cardiomyopathies: from genetics to the prospect of treatment

      LANCET
    54. Athan, ES; Williamson, J; Ciappa, A; Santana, V; Romas, SN; Lee, JH; Rondon, H; Lantigua, RA; Medrano, M; Torres, M; Arawaka, S; Rogaeva, E; Song, YQ; Sato, C; Kawarai, T; Fafel, KC; Boss, MA; Seltzer, WK; Stern, Y; St George-Hyslop, P; Tycko, B; Mayeux, R
      A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    55. Sorbi, S; Forleo, P; Tedde, A; Cellini, E; Ciantelli, M; Bagnoli, S; Nacmias, B
      Genetic risk factors in familial Alzheimer's disease

      MECHANISMS OF AGEING AND DEVELOPMENT
    56. Itoh, K; Matsumoto, A
      Distribution of a human brain carboxypeptidase B capable of cleaving beta-amyloid precursor protein (APP) in normal and Alzheimer's diseased brain

      ACTA HISTOCHEMICA ET CYTOCHEMICA
    57. Ku, NO; Gish, R; Wright, TL; Omary, MB
      Keratin 8 mutations in patients with cryptogenic liver disease.

      NEW ENGLAND JOURNAL OF MEDICINE
    58. Hiltunen, M; Mannermaa, A; Thompson, D; Easton, D; Pirskanen, M; Helisalmi, S; Koivisto, AM; Lehtovirta, M; Ryynanen, M; Soininen, H
      Genome-wide linkage disequilibrium mapping of late-onset Alzheimer's disease in Finland

      NEUROLOGY
    59. Mizuno, Y; Thompson, TC; Guyon, JR; Lidov, HGW; Brosius, M; Imamura, M; Ozawa, E; Watkins, SC; Kunkel, LM
      Desmuslin, an intermediate filament protein that interacts with alpha-dystrobrevin and desmin

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    60. Verkkoniemi, A; Kalimo, H; Paetau, A; Somer, M; Iwatsubo, T; Hardy, J; Haltia, M
      Variant Alzheimer disease with spastic paraparesis: Neuropathological phenotype

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    61. Nakajima, M; Miura, M; Aosaki, T; Shirasawa, T
      Deficiency of presenilin-1 increases calcium-dependent vulnerability of neurons to oxidative stress in vitro

      JOURNAL OF NEUROCHEMISTRY
    62. Greber-Platzer, S; Marx, M; Fleischmann, C; Suppan, C; Dobner, M; Wimmer, M
      Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    63. Boultwood, J
      Ataxia telangiectasia gene mutations in leukaemia and lymphoma

      JOURNAL OF CLINICAL PATHOLOGY
    64. Schmidt, HHJ; Genschel, J; Baier, P; Schmidt, M; Ockenga, J; Tietge, UJF; Propsting, M; Buttner, C; Manns, MP; Lochs, H; Brabant, G
      Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    65. More, MI; Kirsch, FP; Rathjen, FG
      Targeted ablation of NrCAM or ankyrin-B results in disorganized lens fibers leading to cataract formation

      JOURNAL OF CELL BIOLOGY
    66. Kim, JW; Chang, TS; Lee, JE; Huh, SH; Yeon, SW; Yang, WS; Joe, CO; Mook-Jung, I; Tanzi, RE; Kim, TW; Choi, EJ
      Negative regulation of the SAPK/JNK signaling pathway by presenilin 1

      JOURNAL OF CELL BIOLOGY
    67. Beher, D; Wrigley, JDJ; Nadin, A; Evin, G; Masters, CL; Harrison, T; Castro, JL; Shearman, MS
      Pharmacological knock-down of the presenilin 1 heterodimer by a novel gamma-secretase inhibitor - Implications for presenilin biology

      JOURNAL OF BIOLOGICAL CHEMISTRY
    68. Katayama, T; Imaizumi, K; Honda, A; Yoneda, T; Kudo, T; Takeda, M; Mori, K; Rozmahel, R; Fraser, P; St George-Hyslop, P; Tohyama, M
      Disturbed activation of endoplasmic reticulum stress transducers by familial Alzheimer's disease-linked presenilin-1 mutations

      JOURNAL OF BIOLOGICAL CHEMISTRY
    69. Sato, N; Imaizumi, K; Manabe, T; Taniguchi, M; Hitomi, J; Katayama, T; Yoneda, T; Morihara, T; Yasuda, Y; Takagi, T; Kudo, T; Tsuda, T; Itoyama, Y; Makifuchi, T; Fraser, PE; St George-Hyslop, P; Tohyama, M
      Increased production of beta-amyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2

      JOURNAL OF BIOLOGICAL CHEMISTRY
    70. Wakabayashi-Takai, E; Noguchi, S; Ozawa, E
      Identification of myogenesis-dependent transcriptional enhancers in promoter region of mouse gamma-sarcoglycan gene

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    71. Kawamura, Y; Kikuchi, A; Takada, R; Takada, S; Sudoh, S; Shibamoto, S; Yanagisawa, K; Komano, H
      Inhibitory effect of a presenilin 1 mutation on the Wnt signalling pathwayby enhancement of beta-catenin phosphorylation

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    72. Gauthier, E; Fortier, I; Courchesne, F; Pepin, P; Mortimer, J; Gauvreau, D
      Environmental pesticide exposure as a risk factor for Alzheimer's disease:A case-control study

      ENVIRONMENTAL RESEARCH
    73. Lee, HH
      CYP21 mutations and congenital adrenal hyperplasia

      CLINICAL GENETICS
    74. Spooner, PM; Albert, C; Benjamin, EJ; Boineau, R; Elston, RC; George, AL; Jouven, X; Kuller, LH; MacCluer, JW; Marban, E; Muller, JE; Schwartz, PJ; Siscovick, DS; Tracy, RP; Zareba, W; Zipes, DP
      Sudden cardiac death, genes, and arrhythmogenesis - Consideration of new population and mechanistic approaches from a national heart, lung, and bloodinstitute workshop, part I

      CIRCULATION
    75. Hegele, RA
      Premature atherosclerosis associated with monogenic insulin resistance

      CIRCULATION
    76. Varon, R; Reis, A; Henze, G; Von Einsiedel, HG; Sperling, K; Seeger, K
      Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acutelymphoblastic leukemia (ALL)

      CANCER RESEARCH
    77. Dork, T; Bendix, R; Bremer, M; Rades, D; Klopper, K; Nicke, M; Skawran, B; Hector, A; Yamini, P; Steinmann, D; Weise, S; Stuhrmann, M; Karstens, JH
      Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients

      CANCER RESEARCH
    78. Teraoka, SN; Malone, KE; Doody, DR; Suter, NM; Ostrander, EA; Daling, JR; Concannon, P
      Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history

      CANCER
    79. Whalley, LJ
      Early-onset Alzheimer's disease in Scotland: environmental and familial factors

      BRITISH JOURNAL OF PSYCHIATRY
    80. Whittock, NV; Ashton, GHS; Griffiths, WAD; Eady, RAJ; McGrath, JA
      New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

      BRITISH JOURNAL OF DERMATOLOGY
    81. Munro, CS
      Pachyonychia congenita: mutations and clinical presentations

      BRITISH JOURNAL OF DERMATOLOGY
    82. Connors, JB; Rahil, AK; Smith, FJD; McLean, WHI; Milstone, LM
      Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16

      BRITISH JOURNAL OF DERMATOLOGY
    83. Stankovic, T; Taylor, AMR; Yuille, MR; Vorechovsky, I
      Recurrent ATM mutations in T-PLL on diverse haplotypes: no support for their germline origin

      BLOOD
    84. Egnaczyk, GF; Greis, KD; Stimson, ER; Maggio, JE
      Photoaffinity cross-linking of Alzheimer's disease amyloid fibrils revealsinterstrand contact regions between assembled beta-amyloid peptide subunits

      BIOCHEMISTRY
    85. Hata, R; Masumura, M; Akatsu, H; Li, F; Fujita, H; Nagai, Y; Yamamoto, T; Okada, H; Kosaka, K; Sakanaka, M; Sawada, T
      Up-regulation of calcineurin A beta mRNA in the Alzheimer's disease brain:Assessment by cDNA microarray

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    86. Janssen, JC; Lantos, PL; Fox, NC; Harvey, RJ; Beck, J; Dickinson, A; Campbell, TA; Collinge, J; Hanger, DP; Cipolotti, L; Stevens, JM; Rossor, MN
      Autopsy-confirmed familial early-onset Alzheimer disease caused by the L153V presenilin 1 mutation

      ARCHIVES OF NEUROLOGY
    87. Schonberger, J; Seidman, CE
      Many roads lead to a broken heart: The genetics of dilated cardiomyopathy

      AMERICAN JOURNAL OF HUMAN GENETICS
    88. Neuhaus, T; Hertfelder, HJ; Hess, L; Oldenburg, J; Walger, P; Vetter, H
      An uncommon cause of severe bleeding during phenprocoumon treatment

      DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT
    89. Haines, JL; Bailey, LR; Grubber, JM; Hedges, D; Hall, JL; West, S; Santoro, L; Kemmerer, B; Saunders, AM; Roses, AD; Small, GW; Scott, WK; Conneally, PM; Vance, JM; Pericak-Vance, MA
      A genomic search for Alzheimer's disease genes

      ALZHEIMER'S DISEASE
    90. Nacharaju, P; Yen, S; Deture, M; Easson, C; Hutton, M; Yen, SH
      Pathogenic implication of altered tau properties caused by FTDP-17 mutations

      ALZHEIMER'S DISEASE
    91. Esler, WP; Kimberly, WT; Ostaszewski, BL; Xia, WM; Selkoe, DJ; Wolfe, MS
      Toward the identification of gamma-secretase: Using transition state analog inhibitors

      ALZHEIMER'S DISEASE
    92. Steiner, H; Haass, C
      Intramembrane proteolysis by presenilins

      NATURE REVIEWS MOLECULAR CELL BIOLOGY
    93. Sato, N; Urano, F; Leem, JY; Kim, SH; Li, MQ; Donoviel, D; Bernstein, A; Lee, AS; Ron, D; Veselits, ML; Sisodia, SS; Thinakaran, G
      Upregulation of BiP and CHOP by the unfolded-protein response is independent of presenilin expression

      NATURE CELL BIOLOGY
    94. Grubber, JM; Saunders, AM; Yamaoka, LH; Scott, WK; Martin, ER; Hill, DM; Standen, CL; Conneally, PM; Small, GW; Lai, EH; Gilbert, JR; Roses, AD; Haines, JL; Pericak-Vance, MA
      Analysis of chromosome 12 candidate genes in late-onset Alzheimer disease

      ALZHEIMERS REPORTS
    95. Zubenko, GS
      Do susceptibility loci contribute to the expression of more than one mental disorder? A view from the genetics of Alzheimer's disease

      MOLECULAR PSYCHIATRY
    96. Zatz, M; Vainzof, M; Passos-Bueno, MR
      Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

      CURRENT OPINION IN NEUROLOGY
    97. Nagano, A; Arahata, K
      Nuclear envelope proteins acid associated diseases

      CURRENT OPINION IN NEUROLOGY
    98. Shinosaki, K; Nishikawa, T; Takeda, M
      Neurobiological basis of behavioral and psychological symptoms in dementiaof the Alzheimer type

      PSYCHIATRY AND CLINICAL NEUROSCIENCES
    99. Sorajja, P; Elliott, PM; McKenna, WJ
      The molecular genetics of hypertrophic cardiomyopathy: prognostic implications

      EUROPACE
    100. Killian, JK; Byrd, JC; Jirtle, JV; Munday, BL; Stoskopf, MK; MacDonald, RG
      M6P/IGF2R imprinting evolution in mammals

      MOLECULAR CELL


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/05/20 alle ore 14:36:56