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Parolin Schnekenberg, Ricardo
28  Ergebnisse:
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1

Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
Movement Disorders.  39 (2023)  1 - p. 141-151 , 2023
Link: https://doi.org/10.1002/..
 
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2

De novopoint mutations in patients diagnosed with ataxic ce..:

Parolin Schnekenberg, Ricardo ; Perkins, Emma M. ; Miller, Jack W....
Brain.  138 (2015)  7 - p. 1817-1832 , 2015
Link: https://doi.org/10.1093/..
 
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3

Next generation sequencing for molecular diagnosis of neuro..:

Németh, Andrea H. ; Kwasniewska, Alexandra C. ; Lise, Stefano...
Brain.  136 (2013)  10 - p. 3106-3118 , 2013
Link: https://doi.org/10.1093/..
 
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4

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in B..:

Lise, Stefano ; Clarkson, Yvonne ; Perkins, Emma...
PLoS Genetics.  8 (2012)  12 - p. e1003074 , 2012
Link: https://doi.org/10.1371/..
 
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5

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia i..:

Rajan, Deepa S. ; Kour, Sukhleen ; Fortuna, Tyler R....
Frontiers in Cell and Developmental Biology.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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6

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Typ..:

Watson, Lauren M. ; Bamber, Elizabeth ; Schnekenberg, Ricardo Parolin...
The American Journal of Human Genetics.  101 (2017)  4 - p. 638 , 2017
Link: https://doi.org/10.1016/..
 
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7

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Typ..:

Watson, Lauren M. ; Bamber, Elizabeth ; Schnekenberg, Ricardo Parolin...
The American Journal of Human Genetics.  101 (2017)  5 - p. 866 , 2017
Link: https://doi.org/10.1016/..
 
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8

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Typ..:

Watson, Lauren M. ; Bamber, Elizabeth ; Schnekenberg, Ricardo Parolin...
The American Journal of Human Genetics.  101 (2017)  3 - p. 451-458 , 2017
Link: https://doi.org/10.1016/..
 
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9

Detailed analysis of ITPR1 missense variants guides diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
Tolonen , J P , Parolin Schnekenberg , R , McGowan , S , Sims , D , McEntagart , M , Elmslie , F , Shears , D , Stewart , H , Tofaris , G K , Dabir , T , Morrison , P J , Johnson , D , Hadjivassiliou , M , Ellard , S , Shaw‐Smith , C , Znaczko , A , Dixit , A , Suri , M , Sarkar , A , Harrison , R E , Jones , G , Houlden , H , Ceravolo , G , Jarvis , J , Williams , J , Shanks , M E , Clouston , P , Rankin , J , Blumkin , L , Lerman‐Sagie , T , Ponger , P , Raskin , S , Granath , K , Uusimaa , J , Conti , H , McCann , E , Joss , S , Blakes , A J M , Metcalfe , K , Kingston , H , Bertoli , M , Kneen , R , Lynch , S A , Martínez Albaladejo , I , Moore , A P , Jones , W D , Becker , E B E , Németh , A H & Genomics England Research Consortium 2023 , ' Detailed analysis of ITPR1 missense variants guides diagnostics and therapeutic design ' , Movement Disorders . https://doi.org/10.1002/mds.29651.  , 2023
Link: https://pure.qub.ac.uk/e..
 
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10

Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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11

De novo point mutations in patients diagnosed with ataxic c..:

Parolin Schnekenberg, Ricardo ; Perkins, Emma M ; Miller, Jack W...
Parolin Schnekenberg, R., Perkins, E. M., Miller, J. W., Davies, W. I. L., D'Adamo, M. C., Pessia, M., . . . Németh, A. H. (2015). De novo point mutations in patients diagnosed with ataxic cerebral palsy. Brain, 138(7), 1817-1832..  , 2015
Link: https://www.um.edu.mt/li..
 
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12

De novo point mutations in patients diagnosed with ataxic c..:

Parolin Schnekenberg, Ricardo ; Perkins, Emma M ; Miller, Jack W...
https://boris.unibe.ch/115586/.  , 2015
Link: https://boris.unibe.ch/1..
 
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13

Next generation sequencing for molecular diagnosis of neuro..:

Németh, Andrea H ; Kwasniewska, Alexandra C ; Lise, Stefano...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784284.  , 2013
Link: http://www.ncbi.nlm.nih...
 
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14

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia i..:

Rajan, Deepa S ; Kour, Sukhleen ; Fortuna, Tyler R...
Rajan, Deepa S. Kour, Sukhleen Fortuna, Tyler R. Cousin, Margot A. Barnett, Sarah S. Niu, Zhiyv Babovic-Vuksanovic, Dusica Klee, Eric W. Kirmse, Brian Innes, Micheil Rydning, Siri Lynne Selmer, Kaja Kristine Vigeland, Magnus Dehli ERICHSEN, ANNE KJERSTI Nemeth, Andrea H. Millan, Francisca DeVile, Catherine Fawcett, Katherine Legendre, Adrien Sims, David Schnekenberg, Ricardo Parolin Burglen, Lydie Mercier, Sandra Bakhtiari, Somayeh Francisco-Velilla, Rosario Embarc-Buh, Azman Martinez-Salas, Encarnacion Wigby, Kristen Lenberg, Jerica Friedman, Jennifer R. Kruer, Michael C. Pandey, Udai Bhan . Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Frontiers in Cell and Developmental Biology. 2022, 10:783762, 1-14.  , 2022
Link: http://hdl.handle.net/10..
 
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15

Image3_Autosomal Recessive Cerebellar Atrophy and Spastic A..:

Deepa S. Rajan ; Sukhleen Kour ; Tyler R. Fortuna...
doi:10.3389/fcell.2022.783762.s003.  , 2022
Link: https://doi.org/10.3389/..
 
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