Schrank B - Search Results

1

The role of SMN in spinal muscular atrophy.

Jablonka S, Rossoll W, Schrank B, Sendtner M. Jablonka S, et al. Among authors: schrank b. J Neurol. 2000 Mar;247 Suppl 1:I37-42. doi: 10.1007/s004150050555. J Neurol. 2000. PMID: 10795885 Review.

2

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.

Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossoll W, Prior TW, Morris GE, Burghes AH. Monani UR, et al. Among authors: schrank b. Hum Mol Genet. 2000 Feb 12;9(3):333-9. doi: 10.1093/hmg/9.3.333. Hum Mol Genet. 2000. PMID: 10655541

3

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III.

Jablonka S, Schrank B, Kralewski M, Rossoll W, Sendtner M. Jablonka S, et al. Among authors: schrank b. Hum Mol Genet. 2000 Feb 12;9(3):341-6. doi: 10.1093/hmg/9.3.341. Hum Mol Genet. 2000. PMID: 10655542

4

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.

Schrank B, Götz R, Gunnersen JM, Ure JM, Toyka KV, Smith AG, Sendtner M. Schrank B, et al. Proc Natl Acad Sci U S A. 1997 Sep 2;94(18):9920-5. doi: 10.1073/pnas.94.18.9920. Proc Natl Acad Sci U S A. 1997. PMID: 9275227 Free PMC article.

5

Potential implications of a ciliary neurotrophic factor gene mutation in a German population of patients with motor neuron disease.

Giess R, Goetz R, Schrank B, Ochs G, Sendtner M, Toyka K. Giess R, et al. Among authors: schrank b. Muscle Nerve. 1998 Feb;21(2):236-8. doi: 10.1002/(sici)1097-4598(199802)21:2<236::aid-mus12>3.0.co;2-#. Muscle Nerve. 1998. PMID: 9466600

6

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.

Brenner D, Rosenbohm A, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET. Brenner D, et al. Among authors: schrank b. Brain. 2019 Dec 1;142(12):e67. doi: 10.1093/brain/awz306. Brain. 2019. PMID: 31612906 No abstract available.

7

Hot-spot KIF5A mutations cause familial ALS.

Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET. Brenner D, et al. Among authors: schrank b. Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370. Brain. 2018. PMID: 29342275 Free PMC article.

8

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET. Müller K, et al. Among authors: schrank b. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12. J Neurol Neurosurg Psychiatry. 2018. PMID: 29650794

9

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.

Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, Heller R. Wirth B, et al. Among authors: schrank b. Hum Genet. 2006 May;119(4):422-8. doi: 10.1007/s00439-006-0156-7. Epub 2006 Mar 1. Hum Genet. 2006. PMID: 16508748

10

[Treatment evaluation in patients with 5q-associated spinal muscular atrophy : Real-world experience].

Walter MC, Dräger B, Günther R, Hermann A, Hagenacker T, Kleinschnitz C, Löscher W, Meyer T, Schrank B, Schwersenz I, Wurster CD, Ludolph AC, Kirschner J. Walter MC, et al. Among authors: schrank b. Nervenarzt. 2019 Apr;90(4):343-351. doi: 10.1007/s00115-018-0653-7. Nervenarzt. 2019. PMID: 30617569 Review. German.

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