Vorgerd M - Search Results

1

Consequences of a novel caveolin-3 mutation in a large German family.

Fischer D, Schroers A, Blümcke I, Urbach H, Zerres K, Mortier W, Vorgerd M, Schröder R. Fischer D, et al. Among authors: vorgerd m. Ann Neurol. 2003 Feb;53(2):233-41. doi: 10.1002/ana.10442. Ann Neurol. 2003. PMID: 12557291

2

A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.

Vorgerd M, Fuchs S, Tegenthoff M, Malin JP. Vorgerd M, et al. J Neurol Neurosurg Psychiatry. 1995 Feb;58(2):229-31. doi: 10.1136/jnnp.58.2.229. J Neurol Neurosurg Psychiatry. 1995. PMID: 7876858 Free PMC article.

3

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds.

Schöls L, Gispert S, Vorgerd M, Menezes Vieira-Saecker AM, Blanke P, Auburger G, Amoiridis G, Meves S, Epplen JT, Przuntek H, Pulst SM, Riess O. Schöls L, et al. Among authors: vorgerd m. Arch Neurol. 1997 Sep;54(9):1073-80. doi: 10.1001/archneur.1997.00550210011007. Arch Neurol. 1997. PMID: 9311350

4

Mutation analysis in myophosphorylase deficiency (McArdle's disease).

Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW. Vorgerd M, et al. Ann Neurol. 1998 Mar;43(3):326-31. doi: 10.1002/ana.410430310. Ann Neurol. 1998. PMID: 9506549

5

Phenotypic variability in rippling muscle disease.

Vorgerd M, Bolz H, Patzold T, Kubisch C, Malin JP, Mortier W. Vorgerd M, et al. Neurology. 1999 Apr 22;52(7):1453-9. doi: 10.1212/wnl.52.7.1453. Neurology. 1999. PMID: 10227634

6

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

Ziemssen F, Sindern E, Schröder JM, Shin YS, Zange J, Kilimann MW, Malin JP, Vorgerd M. Ziemssen F, et al. Among authors: vorgerd m. Ann Neurol. 2000 Apr;47(4):536-40. Ann Neurol. 2000. PMID: 10762170

7

Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial.

Vorgerd M, Grehl T, Jager M, Muller K, Freitag G, Patzold T, Bruns N, Fabian K, Tegenthoff M, Mortier W, Luttmann A, Zange J, Malin JP. Vorgerd M, et al. Arch Neurol. 2000 Jul;57(7):956-63. doi: 10.1001/archneur.57.7.956. Arch Neurol. 2000. PMID: 10891977 Clinical Trial.

8

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Bonne G, et al. Among authors: vorgerd m. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567

9

Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies.

Vorgerd M, Gencik M, Mortier J, Epplen JT, Malin JP, Mortier W. Vorgerd M, et al. Muscle Nerve. 2001 Mar;24(3):421-4. doi: 10.1002/1097-4598(200103)24:3<421::aid-mus1016>3.0.co;2-r. Muscle Nerve. 2001. PMID: 11353430

10

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Betz RC, Schoser BG, Kasper D, Ricker K, Ramírez A, Stein V, Torbergsen T, Lee YA, Nöthen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C. Betz RC, et al. Among authors: vorgerd m. Nat Genet. 2001 Jul;28(3):218-9. doi: 10.1038/90050. Nat Genet. 2001. PMID: 11431690

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