R. Stucka

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Aliases
R Stucka, R. Stucka, Rolf Stucka
Publication record
67 papers · 2,602 citations · H-index 33

PAPERS

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
202318 citationsauthor #54
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
20212 citationsauthor #6
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
202141 citationsauthor #6
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis
201943 citationsauthor #15
Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration
2018108 citationsauthor #45
MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy
201823 citationsauthor #5
Management of pyogenic liver abscesses in single hospital over 5 year period
20181 citationsauthor #4
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
201759 citationsauthor #20
Targeted HIV-1 Latency Reversal Using CRISPR/Cas9-Derived Transcriptional Activator Systems
201673 citationsauthor #6
Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
20151 citationsauthor #13
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
201536 citationsauthor #6
Transcriptional regulator PRDM12 is essential for human pain perception
2015159 citationsauthor #13
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
201456 citationsauthor #4
Highly Significant Antiviral Activity of HIV-1 LTR-Specific Tre-Recombinase in Humanized Mice
201366 citationsauthor #6
Long-Term Preservation of Cardiac Structure and Function After Adeno-Associated Virus Serotype 9-Mediated Microdystrophin Gene Transfer in mdx Mice
201246 citationsauthor #4
Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytes
20114 citationsauthor #2
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil
201056 citationsauthor #7
Clinical and neuropathological findings in patients with TACO1 mutations.
201042 citationsauthor #4
Prevention of cardiac function in mdx mice after AAV9-mediated microdystrophin gene transfer
20100 citationsauthor #4
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H
200938 citationsauthor #2
Efficient and Fast Functional Screening of Microdystrophin Constructs In Vivo and In Vitro for Therapy of Duchenne Muscular Dystrophy
200917 citationsauthor #6
An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome
200513 citationsauthor #2
High Pure PCR Product Purification Kit: Changed Protocol for Purification of Large DNA Fragments (4.5 kb to >30kb)
20050 citationsauthor #1
H.Feldmann 1,2, M.Aigle3, G.Aljinovic4, B.Andre5, M.C.Baclet3, C.Barthe3, A.Baur6, A.-M.Becam7, N.Biteau3, E.Boles6, T.Brandt8, M.BrendeI9, M.Brückner10, F.Bussereau11, C.Christiansen8, R.Contreras12, M.Crouzet3, C.Cziepluch13, N.Demolis11, Th.Delaveau14, F.Doignon3, H.Domdey15, S.Düsterhus16, E.D
20040 citationsauthor #86
One member of the tRNA(Glu) gene family in yeast codes for a minor GAGtRNA(Glu) species and is associated with several short transposable elements
20042 citationsauthor #1
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
200445 citationsauthor #7
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients
200486 citationsauthor #3
Two families with autosomal dominant progressive external ophthalmoplegia
200432 citationsauthor #6
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.
200430 citationsauthor #4
Conserved and non-conserved features among the yeast T-y elements
20044 citationsauthor #1
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
200434 citationsauthor #4
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients
200392 citationsauthor #8
Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice.
200353 citationsauthor #4
Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.
200212 citationsauthor #7
A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.
200242 citationsauthor #2
Isolation and Identification of PACE-Binding Protein Rpn4, a New Transcriptional Activator Regulating 26S-Proteasomal and Other Genes
200123 citationsauthor #5
Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.
200180 citationsauthor #2
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.
2001121 citationsauthor #3
Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.
200039 citationsauthor #3
A modified alignment of human and rodent 5' untranslated sequences of the acetylcholine receptor epsilon subunit gene reveals additional regions of high homology.
20005 citationsauthor #1
Genetic analysis of the entire AChR ε-subunit gene in 52 congenital myasthenic families
20009 citationsauthor #2
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
199941 citationsauthor #2
A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin
199995 citationsauthor #2
II. Yeast sequencing reports. Analysis of a 70kb region on the right arm of yeast chromosome II
199419 citationsauthor #2
Identification of a set of yeast genes coding for a novel family of putative ATPases with high similarity to constituents of the 26S protease complex
1994117 citationsauthor #3
Analysis of a 70 kb region on the right arm of yeast chromosome II.
199416 citationsauthor #2
Trehalose-6-P synthase is dispensable for growth on glucose but not for spore germination in Schizosaccharomyces pombe
199480 citationsauthor #2
The fdp1 and cif1 mutations are caused by different single nucleotide changes in the yeast CIF1 gene.
199310 citationsauthor #1
DIT101 (CSD2, CAL1), a cell cycle‐regulated yeast gene required for synthesis of chitin in cell walls and chitosan in spore walls
1992137 citationsauthor #5
Molecular analysis of yeast chromosome II between CMD1 and LYS2: The excision repair gene RAD16 located in this region belongs to a novel group of double‐finger proteins
199223 citationsauthor #2
Molecular analysis of the yeast Ty4 element: homology with Ty1, copia, and plant retrotransposons.
199221 citationsauthor #1
Molecular cloning of CIF1, a yeast gene necessary for growth on glucose
1992110 citationsauthor #4
New genes for tRNA(Phe), tRNA(Leu), and tRNA(Thr) from Saccharomyces cerevisiae
19918 citationsauthor #1
DNA sequences in chromosomes 11 and VII code for pyruvate carboxylase isoenzymes in Saccharomyces cerevisiae: analysis of pyruvate carboxylase-deficient strains
199164 citationsauthor #1
The use of a synthetic tRNA gene as a novel approach to study in vivo transcription and chromatin structure in yeast.
199111 citationsauthor #2
An element of symmetry in yeast TATA‐box binding protein transcription factor IID
199013 citationsauthor #1
Characterization of the prephenate dehydrogenase-encoding gene, TYR1, from Saccharomyces cerevisiae.
198945 citationsauthor #2
A hot-spot for transposition of various Ty elements on chromosome V in Saccharomyces cerevisiae
19890 citationsauthor #2
Ty4, a novel low-copy number element in Saccharomyces cerevisiae: one copy is located in a cluster of Ty elements and tRNA genes.
198934 citationsauthor #1
Sequence of a cDNA clone encompassing the complete mature human prostate specific antigen (PSA) and an unspliced leader sequence
198841 citationsauthor #2
Structure of a Saccharomyces cerevisiae gene encoding minor (AGY)tRNA(Ser).
198815 citationsauthor #1
Nucleotide sequence of the phosphoenolpyruvate carboxykinase gene from Saccharomyces cerevisiae.
198837 citationsauthor #1
Analysis of yeast chromosomal regions carrying members of the glutamate tRNA gene family: various transposable elements are associated with them.
198832 citationsauthor #2
A New Silicate Anion: (Si(NCS)6)2-.
19860 citationsauthor #2
Ein neues Silicat-Anion: [Si(NCS)6]2- / A New Silicate Anion: [Si(NCS)6]2-
19869 citationsauthor #2
Different patterns of transposable elements in the vicinity of tRNA genes in yeast: a possible clue to transcriptional modulation.
198516 citationsauthor #2
A newly identi ® ed chromosomal microdeletion and an N-box mutation of the AChR e gene cause a congenital myasthenic syndrome
year unknown0 citationsauthor #2

TIMELINE

1985 16 citations

1986 9 citations

1988 125 citations

1989 79 citations

1990 13 citations

1991 83 citations

1992 291 citations

1993 10 citations

1994 232 citations

1999 136 citations

2000 53 citations

2001 224 citations

2002 54 citations

2003 145 citations

2004 233 citations

2005 13 citations

2009 55 citations

2010 98 citations

2011 4 citations

2012 46 citations

2013 66 citations

2014 56 citations

2015 196 citations

2016 73 citations

2017 59 citations

2018 132 citations

2019 43 citations

2021 43 citations

2023 18 citations

Unknown 0 citations

R. Stucka

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