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Results: 1-20 |
Results: 20
PHENOTYPIC GENOTYPIC CORRELATION IN PATIENTS WITH PROTEOLIPID PROTEINGENE ABNORMALITIES
Authors: MARKS HG KOLODNY EH KOBAYASHI H HOFFMAN E GRAF WD ROE E HOBSON G
Citation: Hg. Marks et al., PHENOTYPIC GENOTYPIC CORRELATION IN PATIENTS WITH PROTEOLIPID PROTEINGENE ABNORMALITIES, Annals of neurology, 44(3), 1998, pp. 40-40
ULLRICH-DISEASE - AN UNRECOGNIZED FORM OF CONGENITAL MUSCULAR-DYSTROPHY
Authors: MARKS HG SCAVINA M EVANS R MACKENZIE WG SCOTT CI
Citation: Hg. Marks et al., ULLRICH-DISEASE - AN UNRECOGNIZED FORM OF CONGENITAL MUSCULAR-DYSTROPHY, Annals of neurology, 44(3), 1998, pp. 47-47
KRABBES-DISEASE PRESENTING AS A PERIPHERAL NEUROPATHY
Authors: MARKS HG SCAVINA MT KOLODNY EH PALMIERI MA CHILDS J
Citation: Hg. Marks et al., KRABBES-DISEASE PRESENTING AS A PERIPHERAL NEUROPATHY, Muscle & nerve, 20(8), 1997, pp. 1024-1028
EFFECT OF CTG REPEAT EXPANSION ON CHROMATIN STRUCTURE AND PROCESSING OF DMPK MESSENGER-RNA IN HYBRID CELL-LINES DERIVED FROM MYOTONIC-DYSTROPHY PATIENTS
Authors: FUNANAGE VL FRISCH R SINGLETON KS CARANGO P MOSES PA MARKS HG
Citation: Vl. Funanage et al., EFFECT OF CTG REPEAT EXPANSION ON CHROMATIN STRUCTURE AND PROCESSING OF DMPK MESSENGER-RNA IN HYBRID CELL-LINES DERIVED FROM MYOTONIC-DYSTROPHY PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1801-1801
TOWARDS FULLY AUTOMATED GENOTYPING - USE OF AN X-LINKED RECESSIVE SPASTIC PARAPLEGIA FAMILY TO TEST ALTERNATIVE ANALYSIS-METHODS (VOL 95, PG 483, 1995)
Authors: KOBAYASHI H MATISE TC PERLIN MW MARKS HG HOFFMAN EP
Citation: H. Kobayashi et al., TOWARDS FULLY AUTOMATED GENOTYPING - USE OF AN X-LINKED RECESSIVE SPASTIC PARAPLEGIA FAMILY TO TEST ALTERNATIVE ANALYSIS-METHODS (VOL 95, PG 483, 1995), Human genetics, 97(1), 1996, pp. 126-126
MYOTONIA AND THE MUSCLE CHLORIDE CHANNEL - DOMINANT MUTATIONS SHOW VARIABLE PENETRANCE AND FOUNDER EFFECT
Authors: KOTY PP PEGORARO E HOBSON G MARKS HG TUREL A FLAGLER D CADALDINI M ANGELINI C HOFFMAN EP
Citation: Pp. Koty et al., MYOTONIA AND THE MUSCLE CHLORIDE CHANNEL - DOMINANT MUTATIONS SHOW VARIABLE PENETRANCE AND FOUNDER EFFECT, Neurology, 47(4), 1996, pp. 963-968
OVEREXPRESSION OF DM20 MESSENGER-RNA IN 2 BROTHERS WITH PELIZAEUS-MERZBACHER-DISEASE
Authors: CARANGO P FUNANAGE VL QUIROS RE DEBRUYN CS MARKS HG
Citation: P. Carango et al., OVEREXPRESSION OF DM20 MESSENGER-RNA IN 2 BROTHERS WITH PELIZAEUS-MERZBACHER-DISEASE, Annals of neurology, 38(4), 1995, pp. 610-617
OVEREXPRESSION OF DM20 MESSENGER-RNA IN 2 BROTHERS WITH PELIZAEUS-MENBACHET DISEASE
Authors: MARKS HG CARANGO P FUNANAGE VL
Citation: Hg. Marks et al., OVEREXPRESSION OF DM20 MESSENGER-RNA IN 2 BROTHERS WITH PELIZAEUS-MENBACHET DISEASE, Annals of neurology, 38(3), 1995, pp. 514-514
TOWARDS FULLY AUTOMATED GENOTYPING - USE OF AN X-LINKED RECESSIVE SPASTIC PARAPLEGIA FAMILY TO TEST ALTERNATIVE ANALYSIS-METHODS
Authors: KOBAYASHI H MATISE TC PERLIN MW MARKS HG HOFFMAN EP
Citation: H. Kobayashi et al., TOWARDS FULLY AUTOMATED GENOTYPING - USE OF AN X-LINKED RECESSIVE SPASTIC PARAPLEGIA FAMILY TO TEST ALTERNATIVE ANALYSIS-METHODS, Human genetics, 95(5), 1995, pp. 483-490
NOVEL MUTATION IN EXON-3 OF THE PROTEOLIPID PROTEIN GENE IN PELIZAEUS-MERZBACHER-DISEASE
Authors: PRATT VM NAIDU S DLOUHY SR MARKS HG HODES ME
Citation: Vm. Pratt et al., NOVEL MUTATION IN EXON-3 OF THE PROTEOLIPID PROTEIN GENE IN PELIZAEUS-MERZBACHER-DISEASE, Neurology, 45(2), 1995, pp. 394-395
SEGREGATION OF A CTG EXPANSION OF 22 REPEATS IN THE MYOTONIC-DYSTROPHY PROTEIN-KINASE (DMPK) GENE WITH PROXIMAL MYOTONIC MYOPATHY (PROMM) IN A 3-GENERATION FAMILY
Authors: FUNANAGE VL CARANGO P SINGLETON KR MOSES PA MARKS HG
Citation: Vl. Funanage et al., SEGREGATION OF A CTG EXPANSION OF 22 REPEATS IN THE MYOTONIC-DYSTROPHY PROTEIN-KINASE (DMPK) GENE WITH PROXIMAL MYOTONIC MYOPATHY (PROMM) IN A 3-GENERATION FAMILY, American journal of human genetics, 57(4), 1995, pp. 1385-1385
THE RUMPSHAKER MUTATION IN SPASTIC PARAPLEGIA
Authors: KOBAYASHI H HOFFMAN EP MARKS HG
Citation: H. Kobayashi et al., THE RUMPSHAKER MUTATION IN SPASTIC PARAPLEGIA, Nature genetics, 7(3), 1994, pp. 351-352
INCREASED LEVELS OF ALTERNATIVELY SPLICED PROTEOLIPID PROTEIN IN 2 ATYPICAL PELIZAEUS-MERZBACHER-DISEASE BROTHERS CARRYING AN INSERTION IN THE 5' UTR OF THEIR PROTEOLIPID PROTEIN GENE
Authors: CARANGO P FUNANAGE VL MARKS HG
Citation: P. Carango et al., INCREASED LEVELS OF ALTERNATIVELY SPLICED PROTEOLIPID PROTEIN IN 2 ATYPICAL PELIZAEUS-MERZBACHER-DISEASE BROTHERS CARRYING AN INSERTION IN THE 5' UTR OF THEIR PROTEOLIPID PROTEIN GENE, Annals of neurology, 36(3), 1994, pp. 535-535
NEW MUTATION OF PROTEOLIPID PROTEIN IN COMPLICATED FORM OF X-LINKED SPASTIC PARAPLEGIA
Authors: MARKS HG KOBAYASHI H HOFFMAN EP
Citation: Hg. Marks et al., NEW MUTATION OF PROTEOLIPID PROTEIN IN COMPLICATED FORM OF X-LINKED SPASTIC PARAPLEGIA, Annals of neurology, 36(3), 1994, pp. 535-535
FREE-RADICAL SCAVENGING ENZYMES IN CHILDREN WITH SPINAL MUSCULAR-ATROPHY
Authors: MARKS HG CHILDS JA GLAUSER TA PIPPENGER CE
Citation: Hg. Marks et al., FREE-RADICAL SCAVENGING ENZYMES IN CHILDREN WITH SPINAL MUSCULAR-ATROPHY, Annals of neurology, 36(3), 1994, pp. 542-542
DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PERIPHERAL MYELIN PROTEIN 22 (PMP22) GENE
Authors: ROA BB DYCK PJ MARKS HG CHANCE PF LUPSKI JR
Citation: Bb. Roa et al., DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PERIPHERAL MYELIN PROTEIN 22 (PMP22) GENE, Nature genetics, 5(3), 1993, pp. 269-273
ABSENCE OF MYOTONIC-DYSTROPHY PROTEIN-KINASE (DMPK) MESSENGER-RNA AS A RESULT OF A TRIPLET REPEAT EXPANSION IN MYOTONIC-DYSTROPHY
Authors: CARANGO P NOBLE JE MARKS HG FUNANAGE VL
Citation: P. Carango et al., ABSENCE OF MYOTONIC-DYSTROPHY PROTEIN-KINASE (DMPK) MESSENGER-RNA AS A RESULT OF A TRIPLET REPEAT EXPANSION IN MYOTONIC-DYSTROPHY, Genomics, 18(2), 1993, pp. 340-348
HYPERKALEMIC PERIODIC PARALYSIS - RAPID MOLECULAR DIAGNOSIS AND RELATIONSHIP OF GENOTYPE TO PHENOTYPE IN 12 FAMILIES
Authors: FEERO WG WANG J BARANY F ZHOU J TODOROVIC SM CONWIT R GALLOWAY G HAUSMANOWAPETRUSEWICZ I FIDZIANSKA A ARAHATA K WESSEL HB WADELIUS C MARKS HG HARTLAGE P HAYAKAWA H HOFFMAN EP
Citation: Wg. Feero et al., HYPERKALEMIC PERIODIC PARALYSIS - RAPID MOLECULAR DIAGNOSIS AND RELATIONSHIP OF GENOTYPE TO PHENOTYPE IN 12 FAMILIES, Neurology, 43(4), 1993, pp. 668-673
NAIL-PATELLA SYNDROME WITH CRANIOSYNOSTOSIS AND MYOPATHY - A NEW ASSOCIATION
Authors: RAMOS FJ NICHOLSON L MARKS HG SCOTT CI
Citation: Fj. Ramos et al., NAIL-PATELLA SYNDROME WITH CRANIOSYNOSTOSIS AND MYOPATHY - A NEW ASSOCIATION, American journal of human genetics, 53(3), 1993, pp. 491-491
MOLECULAR-GENETIC AND GENETIC CORRELATIONS IN SODIUM CHANNELOPATHIES - LACK OF FOUNDER EFFECT AND EVIDENCE FOR A 2ND GENE
Authors: WANG J ZHOU J TODOROVIC SM FEERO WG BARANY F CONWIT R HAUSMANOWAPETRUSEWICZ I FIDZIANSKA A ARAHATA K WESSEL HB SILLEN A MARKS HG HARTLAGE P GALLOWAY G RICKER K LEHMANNHORN F HAYAKAWA H HOFFMAN EP
Citation: J. Wang et al., MOLECULAR-GENETIC AND GENETIC CORRELATIONS IN SODIUM CHANNELOPATHIES - LACK OF FOUNDER EFFECT AND EVIDENCE FOR A 2ND GENE, American journal of human genetics, 52(6), 1993, pp. 1074-1084
Risultati: 1-20 |