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Gläser, Dieter
220  results:
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1

Genetic landscape of congenital insensitivity to pain and h..:

Lischka, Annette ; Eggermann, Katja ; Record, Christopher J...
Brain.  146 (2023)  12 - p. 4880-4890 , 2023
Link: https://doi.org/10.1093/..
 
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2

Newbornscreening SMA – From Pilot Project to Nationwide Scr..:

Müller-Felber, Wolfgang ; Blaschek, Astrid ; Schwartz, Oliver...
Journal of Neuromuscular Diseases.  10 (2023)  1 - p. 55-65 , 2023
Link: https://doi.org/10.3233/..
 
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3

Microscopic and Biochemical Hallmarks of BICD2-Associated M..:

Unger, Andreas ; Roos, Andreas ; Gangfuß, Andrea...
International Journal of Molecular Sciences.  24 (2023)  7 - p. 6808 , 2023
Link: https://doi.org/10.3390/..
 
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4

Spinal Muscular Atrophy – Is Newborn Screening Too Late for..:

Schwartz, Oliver ; Kölbel, Heike ; Blaschek, Astrid...
Journal of Neuromuscular Diseases.  9 (2022)  3 - p. 389-396 , 2022
Link: https://doi.org/10.3233/..
 
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5

Methylation of the 4q35 D4Z4 repeat defines disease status ..:

Erdmann, Hannes ; Scharf, Florentine ; Gehling, Stefanie...
Brain.  146 (2022)  4 - p. 1388-1402 , 2022
Link: https://doi.org/10.1093/..
 
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6

Neugeborenenscreeningprogramm für die spinale Muskelatrophi:

Kölbel, Heike ; Vill, Katharina ; Schwartz, Oliver...
Der Nervenarzt.  93 (2021)  2 - p. 135-141 , 2021
Link: https://doi.org/10.1007/..
 
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7

Newborn screening for spinal muscular atrophy in Germany: c..:

Vill, Katharina ; Schwartz, Oliver ; Blaschek, Astrid...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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8

Leitlinien zur molekulargenetischen Diagnostik: Fragiles-X-..:

Gläser, Dieter ; Deutsche Gesellschaft für Humangenetik e.V. ; Berufsverband Deutscher Humangenetiker e.V..
Medizinische Genetik.  33 (2021)  1 - p. 65-73 , 2021
Link: https://doi.org/10.1515/..
 
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9

Exon skipping in Duchenne Muscle dystrophy due to a silent ..:

Raj Joshi, Pushpa ; Sarangerel, Jambal ; Munkhbayar, Rentsenbat..
Journal of Clinical Neuroscience.  76 (2020)  - p. 229-232 , 2020
Link: https://doi.org/10.1016/..
 
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10

Non-dystrophic myotonias: clinical and mutation spectrum of..:

Vereb, Noemi ; Montagnese, Federica ; Gläser, Dieter.
Journal of Neurology.  268 (2020)  5 - p. 1708-1720 , 2020
Link: https://doi.org/10.1007/..
 
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11

Spinal muscular atrophy (5qSMA): best practice of diagnosti..:

Eggermann, Katja ; Gläser, Dieter ; Abicht, Angela.
Medizinische Genetik.  32 (2020)  3 - p. 263-272 , 2020
Link: https://doi.org/10.1515/..
 
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12

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 C..:

Müller-Felber, Wolfgang ; Vill, Katharina ; Schwartz, Oliver...
Journal of Neuromuscular Diseases.  7 (2020)  2 - p. 109-117 , 2020
Link: https://doi.org/10.3233/..
 
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13

One Year of Newborn Screening for SMA – Results of a German..:

Vill, Katharina ; Kölbel, Heike ; Schwartz, Oliver...
Journal of Neuromuscular Diseases.  6 (2019)  4 - p. 503-515 , 2019
Link: https://doi.org/10.3233/..
 
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14

SACS variants are a relevant cause of autosomal recessive h..:

Vill, Katharina ; Müller-Felber, Wolfgang ; Gläser, Dieter...
Human Genetics.  137 (2018)  11-12 - p. 911-919 , 2018
Link: https://doi.org/10.1007/..
 
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15

Einschlusskörpermyopathie, Paget-Krankheit und frontotempor..:

Mengel, David ; Librizzi, Damiano ; Schoser, Benedikt...
Fortschritte der Neurologie · Psychiatrie.  86 (2018)  7 - p. 434-438 , 2018
Link: https://doi.org/10.1055/..
 
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