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Results: 1-13 |
Results: 13
SMN OLIGOMERIZATION DEFECT CORRELATES WITH SPINAL MUSCULAR-ATROPHY SEVERITY
Authors: LORSON CL STRASSWIMMER J YAO JM BALEJA JD HAHNEN E WIRTH B LE T BURGHES AHM ANDROPHY EJ
Citation: Cl. Lorson et al., SMN OLIGOMERIZATION DEFECT CORRELATES WITH SPINAL MUSCULAR-ATROPHY SEVERITY, Nature genetics, 19(1), 1998, pp. 63-66
ANALYSIS OF THE MAIN SPINAL MUSCULAR-ATROPHY (SMA) CANDIDATE GENES - SMN AND NAIP - IN PATIENTS FROM SLOVAKIA
Authors: ZATKOVA A HAHNEN E WIRTH B KADASI L
Citation: A. Zatkova et al., ANALYSIS OF THE MAIN SPINAL MUSCULAR-ATROPHY (SMA) CANDIDATE GENES - SMN AND NAIP - IN PATIENTS FROM SLOVAKIA, European journal of human genetics, 6, 1998, pp. 4078-4078
MISSENSE MUTATIONS IN EXON-6 OF THE SURVIVAL MOTOR-NEURON GENE IN PATIENTS WITH SPINAL MUSCULAR-ATROPHY (SMA)
Authors: HAHNEN E SCHONLING J RUDNIKSCHONEBORN S RASCHKE H ZERRES K WIRTH B
Citation: E. Hahnen et al., MISSENSE MUTATIONS IN EXON-6 OF THE SURVIVAL MOTOR-NEURON GENE IN PATIENTS WITH SPINAL MUSCULAR-ATROPHY (SMA), Human molecular genetics, 6(5), 1997, pp. 821-825
DIFFERENT ENTITIES OF PROXIMAL SPINAL MUSCULAR-ATROPHY WITHIN ONE FAMILY
Authors: WIRTH B TESSAROLO D HAHNEN E RUDNIKSCHONEBORN S RASCHKE H LIGUORI M GIACANELLI M ZERRES K
Citation: B. Wirth et al., DIFFERENT ENTITIES OF PROXIMAL SPINAL MUSCULAR-ATROPHY WITHIN ONE FAMILY, Human genetics, 100(5-6), 1997, pp. 676-680
DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT OF INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE, AND IMPLICATIONS FOR GENETIC-COUNSELING
Authors: WIRTH B SCHMIDT T HAHNEN E RUDNIKSCHONEBORN S KRAWCZAK M MULLERMYHSOK B SCHONLING J ZERRES K
Citation: B. Wirth et al., DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT OF INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE, AND IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 61(5), 1997, pp. 1102-1111
DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE AND IMPLICATIONS FOR GENETIC-COUNSELING
Authors: WIRTH B SCHMIDT T HAHNEN E RUDNIKSCHONEBORN S KRAWCZAK M MULLERMYHSOK B SCHONLING J ZERRES K
Citation: B. Wirth et al., DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE AND IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 61(4), 1997, pp. 2057-2057
CLINICAL SPECTRUM AND DIAGNOSTIC-CRITERIA OF INFANTILE SPINAL MUSCULAR-ATROPHY - FURTHER DELINEATION ON THE BASIS OF SMN GENE DELETION FINDINGS
Authors: RUDNIKSCHONEBORN S FORKERT R HAHNEN E WIRTH B ZERRES K
Citation: S. Rudnikschoneborn et al., CLINICAL SPECTRUM AND DIAGNOSTIC-CRITERIA OF INFANTILE SPINAL MUSCULAR-ATROPHY - FURTHER DELINEATION ON THE BASIS OF SMN GENE DELETION FINDINGS, Neuropediatrics, 27(1), 1996, pp. 8-15
HYBRID SURVIVAL MOTOR-NEURON GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY - NEW INSIGHTS INTO MOLECULAR MECHANISMS RESPONSIBLE FOR THE DISEASE
Authors: HAHNEN E SCHONLING J RUDNIKSCHONEBORN S ZERRES K WIRTH B
Citation: E. Hahnen et al., HYBRID SURVIVAL MOTOR-NEURON GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY - NEW INSIGHTS INTO MOLECULAR MECHANISMS RESPONSIBLE FOR THE DISEASE, American journal of human genetics, 59(5), 1996, pp. 1057-1065
APPARENT AUTOSOMAL RECESSIVE INHERITANCE IN FAMILIES WITH PROXIMAL SPINAL MUSCULAR-ATROPHY AFFECTING INDIVIDUALS IN 2 GENERATIONS
Authors: RUDNIKSCHONEBORN S ZERRES K HAHNEN E MENG G VOIT T HANEFELD F WIRTH B
Citation: S. Rudnikschoneborn et al., APPARENT AUTOSOMAL RECESSIVE INHERITANCE IN FAMILIES WITH PROXIMAL SPINAL MUSCULAR-ATROPHY AFFECTING INDIVIDUALS IN 2 GENERATIONS, American journal of human genetics, 59(5), 1996, pp. 1163-1165
ALLELIC ASSOCIATION AND DELETIONS IN AUTOSOMAL RECESSIVE PROXIMAL SPINAL MUSCULAR-ATROPHY - ASSOCIATION OF MARKER GENOTYPE WITH DISEASE SEVERITY AND CANDIDATE CDNAS
Authors: WIRTH B HAHNEN E MORGAN K DIDONATO CJ DADZE A RUDNIKSCHONEBORN S SIMARD LR ZERRES K BURGHES AHM
Citation: B. Wirth et al., ALLELIC ASSOCIATION AND DELETIONS IN AUTOSOMAL RECESSIVE PROXIMAL SPINAL MUSCULAR-ATROPHY - ASSOCIATION OF MARKER GENOTYPE WITH DISEASE SEVERITY AND CANDIDATE CDNAS, Human molecular genetics, 4(8), 1995, pp. 1273-1284
MOLECULAR ANALYSIS OF CANDIDATE GENES ON CHROMOSOME 5Q13 IN AUTOSOMALRECESSIVE SPINAL MUSCULAR-ATROPHY - EVIDENCE OF HOMOZYGOUS DELETIONS OF THE SMN GENE IN UNAFFECTED INDIVIDUALS
Authors: HAHNEN E FORKERT R MARKE C RUDNIKSCHONEBORN S SCHONLING J ZERRES K WIRTH B
Citation: E. Hahnen et al., MOLECULAR ANALYSIS OF CANDIDATE GENES ON CHROMOSOME 5Q13 IN AUTOSOMALRECESSIVE SPINAL MUSCULAR-ATROPHY - EVIDENCE OF HOMOZYGOUS DELETIONS OF THE SMN GENE IN UNAFFECTED INDIVIDUALS, Human molecular genetics, 4(10), 1995, pp. 1927-1933
PRENATAL PREDICTION IN FAMILIES WITH AUTOSOMAL RECESSIVE PROXIMAL SPINAL MUSCULAR-ATROPHY (5Q11.2-Q13.3) - MOLECULAR-GENETICS AND CLINICAL-EXPERIENCE IN 109 CASES
Authors: WIRTH B RUDNIKSCHONEBORN S HAHNEN E ROHRIG D ZERRES K
Citation: B. Wirth et al., PRENATAL PREDICTION IN FAMILIES WITH AUTOSOMAL RECESSIVE PROXIMAL SPINAL MUSCULAR-ATROPHY (5Q11.2-Q13.3) - MOLECULAR-GENETICS AND CLINICAL-EXPERIENCE IN 109 CASES, Prenatal diagnosis, 15(5), 1995, pp. 407-417
MOLECULAR ANALYSIS OF CANDIDATE GENES ON 5Q13 IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY - EVIDENCE OF HOMOZYGOUS DELETIONS OF THE SMN GENE IN UNAFFECTED INDIVIDUALS
Authors: WIRTH B HAHNEN E FORKERT R MARKE C RUDNIKSCHONEBORN S ZERRES K
Citation: B. Wirth et al., MOLECULAR ANALYSIS OF CANDIDATE GENES ON 5Q13 IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY - EVIDENCE OF HOMOZYGOUS DELETIONS OF THE SMN GENE IN UNAFFECTED INDIVIDUALS, American journal of human genetics, 57(4), 1995, pp. 104-104
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