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Results: 1-8 |
Results: 8
LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE
Authors: MERLINI L BAROIS A DEMONTE A ECHENNE B GALLANO P JARRE L KALAYDJIEVA L LEVYGOMES A NAVARRO C TOUTAIN A TURNEV I URTIZBEREA A VALLAT JM VOIT T WARTER JM KAPLAN JC
Citation: L. Merlini et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE, Neurology, 50(4), 1998, pp. 3020-3020
TRICHORRHEXIS NODOSA AND LIP PITS IN AUTOSOMAL-DOMINANT ECTODERMAL DYSPLASIA - CENTRAL-NERVOUS-SYSTEM MALFORMATION SYNDROME
Authors: SILENGO M PIETRAGALLA A JARRE L
Citation: M. Silengo et al., TRICHORRHEXIS NODOSA AND LIP PITS IN AUTOSOMAL-DOMINANT ECTODERMAL DYSPLASIA - CENTRAL-NERVOUS-SYSTEM MALFORMATION SYNDROME, American journal of medical genetics, 71(2), 1997, pp. 226-228
CONCOMITANT DEFICIENCY OF BETA-SARCOGLYCANS AND GAMMA-SARCOGLYCANS IN20 ALPHA-SARCOGLYCAN (ADHALIN)-DEFICIENT PATIENTS - IMMUNOHISTOCHEMICAL ANALYSIS AND CLINICAL ASPECTS
Authors: BARRESI R CONFALONIERI V LANFOSSI M DIBLASI C TORCHIANA E MANTEGAZZA R JARRE L NARDOCCI N BOFFI P TEZZON F PINI A CORNELIO F MORA M MORANDI L
Citation: R. Barresi et al., CONCOMITANT DEFICIENCY OF BETA-SARCOGLYCANS AND GAMMA-SARCOGLYCANS IN20 ALPHA-SARCOGLYCAN (ADHALIN)-DEFICIENT PATIENTS - IMMUNOHISTOCHEMICAL ANALYSIS AND CLINICAL ASPECTS, Acta Neuropathologica, 94(1), 1997, pp. 28-35
A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA
Authors: PICCOLO F JEANPIERRE M LETURCQ F DODE C AZIBI K TOUTAIN A MERLINI L JARRE L NAVARRO C KRISHNAMOORTHY R TOME FMS URTIZBEREA JA BECKMANN JS CAMPBELL KP KAPLAN JC
Citation: F. Piccolo et al., A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA, Human molecular genetics, 5(12), 1996, pp. 2019-2022
CLINICAL HETEROGENEITY OF ADHALIN DEFICIENCY
Authors: MORANDI L BARRESI R DIBLASI C JUNG D SUNADA Y CONFALONIERI V DWORZAK F MANTEGAZZA R ANTOZZI C JARRE L PINI A GOBBI G BIANCHI C CORNELIO F CAMPBELL KP MORA M
Citation: L. Morandi et al., CLINICAL HETEROGENEITY OF ADHALIN DEFICIENCY, Annals of neurology, 39(2), 1996, pp. 196-202
DEVELOPMENTAL EXPRESSION OF DYSTROPHIN, DYSTROPHIN-ASSOCIATED GLYCOPROTEINS AND OTHER MEMBRANE CYTOSKELETAL PROTEINS IN HUMAN SKELETAL AND HEART-MUSCLE
Authors: MORA M DIBLASI C BARRESI R MORANDI L BRAMBATI B JARRE L CORNELIO F
Citation: M. Mora et al., DEVELOPMENTAL EXPRESSION OF DYSTROPHIN, DYSTROPHIN-ASSOCIATED GLYCOPROTEINS AND OTHER MEMBRANE CYTOSKELETAL PROTEINS IN HUMAN SKELETAL AND HEART-MUSCLE, Developmental brain research, 91(1), 1996, pp. 70-82
GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA
Authors: MARIOTTI C SAVARESE N SUOMALAINEN A RIMOLDI M COMI G PRELLE A ANTOZZI C SERVIDEI S JARRE L DIDONATO S ZEVIANI M
Citation: C. Mariotti et al., GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA, Journal of neurology, 242(5), 1995, pp. 304-312
DYSTROPHIN CHARACTERIZATION IN BMD PATIENTS - CORRELATION OF ABNORMALPROTEIN WITH CLINICAL PHENOTYPE
Authors: MORANDI L MORA M CONFALONIERI V BARRESI R DIBLASI C BRUGNONI R BERNASCONI P MANTEGAZZA R DWORZAK F ANTOZZI C BALESTRINI MR JARRE L PINI A MERLINI L PICCOLO G MAZZANTI A DANIEL S BLASEVICH F CORNELIO F
Citation: L. Morandi et al., DYSTROPHIN CHARACTERIZATION IN BMD PATIENTS - CORRELATION OF ABNORMALPROTEIN WITH CLINICAL PHENOTYPE, Journal of the neurological sciences, 132(2), 1995, pp. 146-155
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