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Senderek, Jan
146  results:
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1

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
Genetics in Medicine.  25 (2023)  10 - p. 100961 , 2023
Link: https://doi.org/10.1016/..
 
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2

The new missense G376V-TDP-43 variant induces late-onset di..:

Zibold, Julia ; Lessard, Lola E R ; Picard, Flavien...
Brain.  147 (2023)  5 - p. 1768-1783 , 2023
Link: https://doi.org/10.1093/..
 
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3

Myelin protein zero mutation‐related hereditary neuropathie..:

Bremer, Juliane ; Meinhardt, Axel ; Katona, Istvan...
Brain Pathology.  34 (2023)  1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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4

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
Genetics in Medicine.  24 (2022)  10 - p. 2079-2090 , 2022
Link: https://doi.org/10.1016/..
 
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5

Genetic pain loss disorders:

Lischka, Annette ; Lassuthova, Petra ; Çakar, Arman...
Nature Reviews Disease Primers.  8 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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6

A polymorphic AT-repeat causes frequent allele dropout for ..:

Høyer, Helle ; Hilmarsen, Hilde T ; Sunder-Plassmann, Raute...
Journal of Medical Genetics.  59 (2022)  10 - p. 1024-1026 , 2022
Link: https://doi.org/10.1136/..
 
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7

PLEKHG5: Merging phenotypes and disease mechanisms in Charc..:

Senderek, Jan
European Journal of Neurology.  28 (2021)  4 - p. 1106-1107 , 2021
Link: https://doi.org/10.1111/..
 
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8

Association of A Novel Splice Site Mutation in P/Q-Type Cal..:

Stendel, Claudia ; D'Adamo, Maria Cristina ; Wiessner, Manuela...
International Journal of Molecular Sciences.  21 (2020)  11 - p. 3810 , 2020
Link: https://doi.org/10.3390/..
 
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9

The genetic landscape of axonal neuropathies in the middle-..:

Senderek, Jan ; Lassuthova, Petra ; Kabzińska, Dagmara...
Neurology.  95 (2020)  24 - p. , 2020
Link: https://doi.org/10.1212/..
 
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10

Charcot-Marie-Tooth disease and hereditary motor neuropathi..:

Rudnik-Schöneborn, Sabine ; Auer-Grumbach, Michaela ; Senderek, Jan
Medizinische Genetik.  32 (2020)  3 - p. 207-219 , 2020
Link: https://doi.org/10.1515/..
 
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11

Identifizierung und Charakterisierung der ursächlichen Gen..:

Martin, Julia , 2019
Link: https://nbn-resolving.de..
 
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12

PRDM12 Is Required for Initiation of the Nociceptive Neuron..:

Bartesaghi, Luca ; Wang, Yiqiao ; Fontanet, Paula...
Cell Reports.  26 (2019)  13 - p. 3484-3492.e4 , 2019
Link: https://doi.org/10.1016/..
 
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13

The clinical spectrum of the congenital myasthenic syndrome..:

Rodríguez Cruz, Pedro M. ; Cossins, Judith ; de Paula Estephan, Eduardo...
Brain.  142 (2019)  6 - p. 1547-1560 , 2019
Link: https://doi.org/10.1093/..
 
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14

Congenital myasthenic syndrome caused by novel COL13A1 muta..:

Dusl, Marina ; Moreno, Teresa ; Munell, Francina...
Journal of Neurology.  266 (2019)  5 - p. 1107-1112 , 2019
Link: https://doi.org/10.1007/..
 
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15

Immunvermittelte / inflammatorische und hereditäre Neuropat..:

Schlotter-Weigel, Beate ; Senderek, Jan
Fortschritte der Neurologie · Psychiatrie.  86 (2018)  9 - p. 566-574 , 2018
Link: https://doi.org/10.1055/..
 
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