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La ricerca find articoli where soggetti phrase all words 'FRIEDREICH ATAXIA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 130 riferimenti
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    1. Di Donato, S; Gellera, C; Mariotti, C
      The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias

      NEUROLOGICAL SCIENCES
    2. Anderson, GJ
      Ironing out disease: Inherited disorders of iron homeostasis

      IUBMB LIFE
    3. Larsson, NG; Rustin, P
      Animal models for respiratory chain disease

      TRENDS IN MOLECULAR MEDICINE
    4. Murphy, MP
      Development of lipophilic cations as therapies for disorders due to mitochondrial dysfunction

      EXPERT OPINION ON BIOLOGICAL THERAPY
    5. Becker, E; Richardson, DR
      Frataxin: its role in iron metabolism and the pathogenesis of Friedreich'sataxia

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    6. Gabsi, S; Gouider-Khouja, N; Belal, S; Fki, M; Kefi, M; Turki, I; Ben Hamida, M; Kayden, H; Mebazaa, R; Hentati, F
      Effect of vitamin E supplementation in patients with ataxia with vitamin Edeficiency

      EUROPEAN JOURNAL OF NEUROLOGY
    7. Palau, F
      Friedreich's ataxia and frataxin: Molecular genetics, evolution and pathogenesis (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    8. Singh, G; Binstadt, BA; Black, DF; Corr, AP; Rummans, TA
      Electroconvulsive therapy and Friedreich's ataxia

      JOURNAL OF ECT
    9. Gordon, DM; Kogan, M; Knight, SAB; Dancis, A; Pain, D
      Distinct roles for two N-terminal cleaved domains in mitochondrial import of the yeast frataxin homolog, Yfh1p

      HUMAN MOLECULAR GENETICS
    10. Roy, CN; Andrews, NC
      Recent advances in disorders of iron metabolism: mutations, mechanisms andmodifiers

      HUMAN MOLECULAR GENETICS
    11. Tan, G; Chen, LS; Lonnerdal, B; Gellera, C; Taroni, FA; Cortopassi, GA
      Frataxin expression rescues mitochondrial dysfunctions in FRDA cells

      HUMAN MOLECULAR GENETICS
    12. Bit-Avragim, N; Perrot, A; Schols, L; Hardt, C; Kreuz, FR; Zuhlke, C; Bubel, S; Laccone, F; Vogel, HP; Dietz, R; Osterziel, KJ
      The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia

      JOURNAL OF MOLECULAR MEDICINE-JMM
    13. Richardson, DR; Mouralian, C; Ponka, P; Becker, E
      Development of potential iron chelators for the treatment of Friedreich's ataxia: ligands that mobilize mitochondrial iron

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    14. Lill, R; Kispal, G
      Mitochondrial ABC transporters

      RESEARCH IN MICROBIOLOGY
    15. McDaniel, DO; Keats, B; Vedanarayanan, VV; Subramony, SH
      Sequence variation in GAA repeat expansions may cause differential penotype display in Friedreich's ataxia

      MOVEMENT DISORDERS
    16. Paulson, H; Ammache, Z
      Ataxia and hereditary disorders

      NEUROLOGIC CLINICS
    17. Maueler, W; Bassili, G; Hardt, C; Keyl, HG; Epplen, JT
      A complex containing at least one zinc dependent HeLa nuclear protein binds to the intronic (gaa)(n) block of the frataxin gene

      GENE
    18. Masino, L; Pastore, A
      A structural approach to trinucleotide expansion diseases

      BRAIN RESEARCH BULLETIN
    19. Cellini, E; Forleo, P; Nacmias, B; Tedde, A; Latorraca, S; Piacentini, S; Parnetti, L; Gallai, V; Sorbi, S
      Clinical and genetic analysis of hereditary and sporadic ataxia in centralItaly

      BRAIN RESEARCH BULLETIN
    20. Schols, L; Vorgerd, I; Schillings, M; Skipka, G; Zange, J
      Idebenone in patients with Friedreich ataxia

      NEUROSCIENCE LETTERS
    21. Shoubridge, EA
      Nuclear gene defects in respiratory chain disorders

      SEMINARS IN NEUROLOGY
    22. Militante, JD; Lombardini, JB
      Increased cardiac levels of taurine in cardiomyopathy: the paradoxical benefits of oral taurine treatment

      NUTRITION RESEARCH
    23. Melov, S; Doctrow, SR; Schneider, JA; Haberson, J; Patel, M; Coskun, PE; Huffman, K; Wallace, DC; Malfroy, B
      Lifespan extension and rescue of spongiform encephalopathy in superoxide dismutase 2 nullizygous mice treated with superoxide dismutase-catalase mimetics

      JOURNAL OF NEUROSCIENCE
    24. Orth, M; Schapira, AHV
      Mitochondria and degenerative disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Golden, TR; Melov, S
      Mitochondrial DNA mutations, oxidative stress, and aging

      MECHANISMS OF AGEING AND DEVELOPMENT
    26. Travis, LH; Josephs, KA; Bower, JH
      25-Year-old woman with incoordination and decreased balance

      MAYO CLINIC PROCEEDINGS
    27. Justice, CM; Den, ZN; Nguyen, SV; Stoneking, M; Deininger, PL; Batzer, MA; Keats, BJB
      Phylogenetic analysis of the friedreich ataxia GAA trinucleotide repeat

      JOURNAL OF MOLECULAR EVOLUTION
    28. Sakamoto, N; Ohshima, K; Montermini, L; Pandolfo, M; Wells, RD
      Sticky DNA, a self-associated complex formed at long GAA center dot TTC repeats in intron 1 of the frataxin gene, inhibits transcriptions

      JOURNAL OF BIOLOGICAL CHEMISTRY
    29. Sakamoto, N; Larson, JE; Iyer, RR; Montermini, L; Pandolfo, M; Wells, RD
      GGA center dot TCC-interrupted triplets in long GAA center dot TTC repeatsinhibit the formation of tripler and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities

      JOURNAL OF BIOLOGICAL CHEMISTRY
    30. Jiralerspong, S; Ge, B; Hudson, TJ; Pandolfo, M
      Manganese superoxide dismutase induction by iron is impaired in Friedreichataxia cells

      FEBS LETTERS
    31. Chen, OS; Kaplan, J
      YFH1-mediated iron homeostasis is independent of mitochondrial respiration

      FEBS LETTERS
    32. Piemonte, F; Pastore, A; Tozzi, G; Tagliacozzi, D; Santorelli, FM; Carrozzo, R; Casali, C; Damiano, M; Federici, G; Bertini, E
      Glutathione in blood of patients with Friedreich's ataxia

      EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
    33. Marzouki, N; Belal, S; Benhamida, C; Benlemlih, M; Hentati, F
      Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families

      CLINICAL GENETICS
    34. Leonard, H; Forsyth, R
      Friedreich's ataxia presenting after cardiac transplantation

      ARCHIVES OF DISEASE IN CHILDHOOD
    35. Hellenbroich, Y; Schwinger, E; Zuhlke, C
      Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes

      ACTA NEUROLOGICA SCANDINAVICA
    36. Santoro, L; Perretti, A; Lanzillo, B; Coppola, G; De Joanna, G; Manganelli, F; Cocozza, S; De Michele, G; Filla, A; Caruso, G
      Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease

      CLINICAL NEUROPHYSIOLOGY
    37. Illarioshkin, SN; Bagieva, GK; Klyushnikov, SA; Ovchinnikov, IV; Markova, ED; Ivanova-Smolenskaya, IA
      Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features

      EUROPEAN JOURNAL OF NEUROLOGY
    38. Schapira, AHV
      Mitochondrial disorders

      CURRENT OPINION IN NEUROLOGY
    39. Cummings, CJ; Zoghbi, HY
      Fourteen and counting: unraveling trinucleotide repeat diseases

      HUMAN MOLECULAR GENETICS
    40. Cavadini, P; Gellera, C; Patel, PI; Isaya, G
      Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae

      HUMAN MOLECULAR GENETICS
    41. Vorgerd, M; Schols, L; Hardt, C; Ristow, M; Epplen, JT; Zange, J
      Mitochondrial impairment of human muscle in Friedreich ataxia in vivo

      NEUROMUSCULAR DISORDERS
    42. Chew, A; Sirugo, G; Alsobrook, JP; Isaya, G
      Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin

      GENOMICS
    43. Filla, A; De Michele, G; Coppola, G; Federico, A; Vita, G; Toscano, A; Uncini, A; Pisanelli, P; Barone, P; Scarano, V; Perretti, A; Santoro, L; Monticelli, A; Cavalcanti, F; Caruso, G; Cocozza, S
      Accuracy of clinical diagnostic criteria for Friedreich's ataxia

      MOVEMENT DISORDERS
    44. Gordon, N
      Friedreich's ataxia and iron metabolism

      BRAIN & DEVELOPMENT
    45. Canizares, J; Blanca, JM; Navarro, JA; Monros, E; Palau, F; Molto, MD
      dfh is a Drosophila homolog of the Friedreich's ataxia disease gene

      GENE
    46. Sorbi, S; Forleo, P; Fani, C; Piacentini, S
      Double-blind, crossover, placebo-controlled clinical trial with L-acetylcarnitine in patients with degenerative cerebellar ataxia

      CLINICAL NEUROPHARMACOLOGY
    47. McCabe, DJH; Ryan, F; Moore, DP; McQuaid, S; King, MD; Kelly, A; Daly, K; Baron, DE
      Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

      JOURNAL OF NEUROLOGY
    48. Jensen, LT; Culotta, VC
      Role of Saccharomyces cerevisiae ISA1 and ISA2 in iron homeostasis

      MOLECULAR AND CELLULAR BIOLOGY
    49. Leonard, JV; Schapira, AHV
      Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

      LANCET
    50. Kawai, C; Kato, S; Takashima, M; Fujiwara, H; Haebara, H
      Heart disease in Friedreich's ataxia - Observation of a case for half a century

      JAPANESE CIRCULATION JOURNAL-ENGLISH EDITION
    51. De Michele, G; Filla, A; Cavalcanti, F; Tammaro, A; Monticelli, A; Pianese, L; Di Salle, F; Perretti, A; Santoro, L; Caruso, G; Cocozza, S
      Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene

      NEUROLOGY
    52. Labuda, M; Labuda, D; Miranda, C; Poirier, J; Soong, BW; Barucha, NE; Pandolfo, M
      Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion

      NEUROLOGY
    53. Cho, SJ; Lee, MG; Yang, JK; Lee, JY; Song, HK; Suh, SW
      Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    54. Colome, C; Sierra, C; Vilaseca, A
      Inborn errors of metabolism: cause of oxidative stress?

      MEDICINA CLINICA
    55. LeProust, EM; Pearso, CE; Sinden, RR; Gao, XL
      Unexpected formation of parallel duplex in GAA and TTC trinucleotide repeats of Friedreich's ataxia

      JOURNAL OF MOLECULAR BIOLOGY
    56. Delatycki, MB; Williamson, R; Forrest, SM
      Friedreich ataxia: an overview

      JOURNAL OF MEDICAL GENETICS
    57. Geissler, A; Krimmer, T; Schonfisch, B; Meijer, M; Rassow, J
      Biogenesis of the yeast frataxin homolog Yfh1p - Tim44-dependent transfer to mtHsp70 facilitates folding of newly imported proteins in mitochondria

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    58. McGovern, MC; Stewart, M; Morrison, PJ; Webb, D; Hawkins, S
      Early onset of Friedreich's ataxia in a compound heterozygote

      ARCHIVES OF DISEASE IN CHILDHOOD
    59. Mukerji, M; Choudhry, S; Saleem, Q; Padma, MV; Maheshwari, MC; Jain, S
      Molecular analysis of Friedreich's ataxia locus in the Indian population

      ACTA NEUROLOGICA SCANDINAVICA
    60. Timchenko, LT; Caskey, CT
      Triplet repeat disorders: discussion of molecular mechanisms

      CELLULAR AND MOLECULAR LIFE SCIENCES
    61. Dutka, DP; Donnelly, JE; Nihoyannopoulos, P; Oakley, CM; Nunez, DJ
      Marked variation in the cardiomyopathy associated with Friedreich's ataxia

      HEART
    62. Branda, SS; Yang, ZY; Chew, A; Isaya, G
      Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae

      HUMAN MOLECULAR GENETICS
    63. Gonzalez-Cabo, P; Sanchez, MI; Canizares, J; Blanca, JM; Martinez-Arias, R; De Castro, M; Bertranpetit, J; Palau, F; Molto, MD; de Frutos, R
      Incipient GAA repeats in the primate Friedreich ataxia homologous genes

      MOLECULAR BIOLOGY AND EVOLUTION
    64. Hartmann, N; Martrette, JM; Strazielle, C; Westphal, A
      Dystonia musculorum mutation and myosin heavy chain expression in skeletaland cardiac muscles

      JOURNAL OF CELLULAR BIOCHEMISTRY
    65. Hoshino, M; Masuda, N; Ito, Y; Murata, M; Goto, J; Sakurai, M; Kanazawa, I
      Ataxia with isolated vitamin E deficiency: A Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene

      ANNALS OF NEUROLOGY
    66. Delatycki, MB; Knight, M; Koenig, M; Cossee, M; Williamson, R; Forrest, SM
      G130V, a common FRDA point mutation, appears to have arisen from a common founder

      HUMAN GENETICS
    67. Coppola, G; De Michele, G; Cavalcanti, F; Pianese, L; Perretti, A; Santoro, L; Vita, G; Toscano, A; Amboni, M; Grimaldi, G; Salvatore, E; Caruso, G; Filla, A
      Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study

      JOURNAL OF NEUROLOGY
    68. Schelhaas, HJ; Van der Hulst, M; Ippel, E; Prevo, RL; Hageman, G
      Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member

      CLINICAL NEUROLOGY AND NEUROSURGERY
    69. Shoffner, JM
      Oxidative phosphorylation disease diagnosis

      SEMINARS IN NEUROLOGY
    70. Pandolfo, M
      Friedreich's ataxia: Clinical aspects and pathogenesis

      SEMINARS IN NEUROLOGY
    71. Deger, K; Ziegler, W; Wessel, K
      Airflow tracking in patients with ataxic disorders

      CLINICAL LINGUISTICS & PHONETICS
    72. Alikasifoglu, M; Topaloglu, H; Tuncbilek, E; Ceviz, M; Anar, B; Demir, E; Ozme, S
      Clinical and genetic correlate in childhood onset Friedreich ataxia

      NEUROPEDIATRICS
    73. Delatycki, MB; Paris, DBBP; Gardner, RJM; Nicholson, GA; Nassif, N; Storey, E; MacMillan, JC; Collins, V; Williamson, R; Forrest, SM
      Clinical and genetic study of Friedreich ataxia in an Australian population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    74. Ohshima, K; Sakamoto, N; Labuda, M; Poirier, J; Moseley, ML; Montermini, L; Ranum, LPW; Wells, RD; Pandolfo, M
      A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis

      NEUROLOGY
    75. Burk, K; Klockgether, T; Dichgans, J
      Molecular genetics and pathogenic mechanisms of hereditary ataxia

      NERVENARZT
    76. Koeppen, AH; Dickson, AC; Lamarche, JB; Robitaille, Y
      Synapses in the hereditary ataxias

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    77. Webb, S; Doudney, K; Pook, M; Chamberlain, S; Hutchinson, M
      A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    78. Santoro, L; De Michele, G; Perretti, A; Crisci, C; Cocozza, S; Cavalcanti, F; Ragno, M; Monticelli, A; Filla, A; Caruso, G
      Relation between trinucleotide GAA repeat length and sensory neuropathy inFriedreich's ataxia

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    79. Kish, SJ; Mastrogiacomo, F; Guttman, H; Furukawa, Y; Taanman, JW; Dozic, S; Pandolfo, M; Lamarche, J; DiStefano, L; Chang, LJ
      Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: A nonspecific change?

      JOURNAL OF NEUROCHEMISTRY
    80. Mariappan, SVS; Catasti, P; Silks, LA; Bradbury, EM; Gupta, G
      The high-resolution structure of the triplex formed by the GAA/TTC tripletrepeat associated with Friedreich's ataxia

      JOURNAL OF MOLECULAR BIOLOGY
    81. Radisky, DC; Babcock, MC; Kaplan, J
      The yeast frataxin homologue mediates mitochondrial iron efflux - Evidencefor a mitochondrial, iron cycle

      JOURNAL OF BIOLOGICAL CHEMISTRY
    82. Branda, SS; Cavadini, P; Adamec, J; Kalousek, F; Taroni, F; Isaya, G
      Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase

      JOURNAL OF BIOLOGICAL CHEMISTRY
    83. Foury, F
      Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain

      FEBS LETTERS
    84. Li, DS; Ohshima, K; Jiralerspong, S; Bojanowski, MW; Pandolfo, M
      Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants

      FEBS LETTERS
    85. Martin, JJ; Martin, L; Lofgren, A; D'Hooghe, M; Storm, K; Balemans, W; Palau, F; Van Broeckhoven, C
      Classical Friedreich's ataxia and its genotype

      EUROPEAN NEUROLOGY
    86. Dalgaard, LT; Hansen, T; Urhammer, SA; Clausen, JO; Eiberg, H; Pedersen, O
      Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose-induced beta-cell function inDanish Caucasians

      DIABETES
    87. Copp, RP; Wisniewski, T; Hentati, F; Larnaout, A; Ben Hamida, M; Kayden, HJ
      Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders

      BRAIN RESEARCH
    88. Loreal, O; Pigeon, C; Zanninelli, G; Turlin, B; Lescoat, G; Deugnier, Y; Brissot, P
      Current data on iron metabolism

      ANNALES D ENDOCRINOLOGIE
    89. Klopstock, T; Chahrokh-Zadeh, S; Holinski-Feder, E; Meindl, A; Gasser, T; Pongratz, D; Muller-Felber, W
      Markedly different course of Friedreich's ataxia in sib pairs with similarGAA repeat expansions in the frataxin gene

      ACTA NEUROPATHOLOGICA
    90. Zuhlke, C; Gehlken, U; Purmann, S; Kunisch, M; Muller-Myhsok, B; Kreuz, F; Laccone, F
      Linkage disequilibrium and haplotype analysis in German Friedreich ataxia families

      HUMAN HEREDITY
    91. KOUTNIKOVA H; CAMPUZANO V; KOENIG M
      MATURATION OF WILD-TYPE AND MUTATED FRATAXIN BY THE MITOCHONDRIAL PROCESSING PEPTIDASE

      Human molecular genetics (Print)
    92. PANDOLFO M
      MOLECULAR-GENETICS AND PATHOGENESIS OF FRIEDREICH ATAXIA

      Neuromuscular disorders
    93. ZOUARI M; FEKI M; BENHAMIDA C; LARNAOUT A; TURKI I; BELAL S; MEBAZAA A; BENHAMIDA M; HENTATI F
      ELECTROPHYSIOLOGY AND NERVE BIOPSY - COMPARATIVE-STUDY IN FRIEDREICH ATAXIA AND FRIEDREICH ATAXIA PHENOTYPE WITH VITAMIN-E-DEFICIENCY

      Neuromuscular disorders
    94. DUSSAULT I; FAWCETT D; MATTHYSSEN A; BADER JA; GIGUERE V
      ORPHAN NUCLEAR RECEPTOR ROR-ALPHA-DEFICIENT MICE DISPLAY THE CEREBELLAR DEFECTS OF STAGGERER

      Mechanisms of development
    95. ZUHLKE C; LACCONE F; COSSEE M; KOHLSCHUTTER A; KOENIG M; SCHWINGER E
      MUTATION OF THE START CODON IN THE FRDA1 GENE - LINKAGE ANALYSIS OF 3PEDIGREES WITH THE ATG TO ATT TRANSVERSION PAINTS TO A UNIQUE COMMON ANCESTOR

      Human genetics
    96. MACHKHAS H; BIDICHANDANI SI; PATEL PI; HARATI Y
      A MILD CASE OF FRIEDREICH ATAXIA - LYMPHOCYTE AND SURAL NERVE ANALYSIS FOR GAA REPEAT LENGTH REVEALS SOMATIC MOSAICISM

      Muscle & nerve
    97. SEKIJIMA Y; OHARA S; NAKAGAWA S; TABATA K; YOSHIDA K; ISHIGAME H; SHIMIZU Y; YANAGISAWA N
      HEREDITARY MOTOR AND SENSORY NEUROPATHY ASSOCIATED WITH CEREBELLAR ATROPHY (HMSNCA) - CLINICAL AND NEUROPATHOLOGICAL FEATURES OF A JAPANESEFAMILY

      Journal of the neurological sciences
    98. DELATYCKI MB; PARIS D; GARDNER RJM; FORSHAW K; NICHOLSON GA; NASSIF N; WILLIAMSON R; FORREST SM
      SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE

      Journal of Medical Genetics
    99. WEILER T; GREENBERG CR; ZELINSKI T; NYLEN E; COGHLAN G; CRUMLEY MJ; FUJIWARA TM; MORGAN K; WROGEMANN K
      A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN MANITOBA HUTTERITES MAPS TO CHROMOSOME REGION 9Q31-Q33 - EVIDENCE FOR ANOTHER LIMB-GIRDLE MUSCULAR-DYSTROPHY LOCUS

      American journal of human genetics
    100. CAVALIER L; OUAHCHI K; KAYDEN HJ; DIDONATO S; REUTENAUER L; MANDEL JL; KOENIG M
      ATAXIA WITH ISOLATED VITAMIN-E-DEFICIENCY - HETEROGENEITY OF MUTATIONS AND PHENOTYPIC VARIABILITY IN A LARGE NUMBER OF FAMILIES

      American journal of human genetics


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Documento generato il 29/05/20 alle ore 09:59:49