B. Schrank

发表

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

E. Shoubridge, H. Antonicka, M. Chevrette, 2009, Nature Genetics.

High dose vitamin E therapy in amyotrophic lateral sclerosis as add-on therapy to riluzole: results of a placebo-controlled double-blind study

A. Wuerz, P. Riederer, S. Petri, 2005, Journal of Neural Transmission.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

B. Wirth, R. Boostani, R. Heller, 2018, Human mutation.

Effect of High‐Caloric Nutrition on Survival in Amyotrophic Lateral Sclerosis

A. Winkler, J. Dreyhaupt, S. Petri, 2019, Annals of neurology.

Muscle MRI findings in limb girdle muscular dystrophy type 2L

K. Bushby, Hanns Lochmüller, R. Carlier, 2012, Neuromuscular Disorders.

The impact of ropinirole on blood pressure and noradrenaline concentration after active orthostasis in Parkinsonian patients.

B. Schrank, W. Jost, A. Bellon, 1998, Parkinsonism & related disorders.

Safety and efficacy of rasagiline as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomised, double-blind, parallel-group, placebo-controlled, phase 2 trial

S. Klebe, U. Bogdahn, A. Winkler, 2018, The Lancet Neurology.

Repeat Botulin Toxin Injections in Anal Fissure (In Patients with Relapse and After Insufficient Effect of First Treatment)

B. Schrank, W. Jost, 1999, Digestive Diseases and Sciences.

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

B. Schrank, K. Toyka, R. Giess, 1998 .

[Recommendations of Bavarian Muscle Centers of the German Neuromuscular Disease Society for home ventilation of neuromuscular diseases of adult patients].

B. Neundörfer, D. Claus, B. Schrank, 1997, Der Nervenarzt.

Effect of high-caloric nutrition on serum neurofilament light chain levels in amyotrophic lateral sclerosis

A. Winkler, J. Dreyhaupt, S. Petri, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

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

B. Schrank, K. Toyka, R. Giess, 1998, Muscle & nerve.

FLNC-Associated Myofibrillar Myopathy

F. Jacobsen, M. Vorgerd, K. Djinović-Carugo, 2021, Neurology: Genetics.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.

Clinical and neuropathological findings in patients with TACO1 mutations

J. Seeger, B. Schrank, H. Lochmüller, 2010, Neuromuscular Disorders.

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

I. Katona, T. Hornemann, B. Schlotter-Weigel, 2017, Journal of neurochemistry.

Oculopharyngeal muscular dystrophy as a rare cause of dysphagia

B. Schrank, A. Eckardt, Michaela Müller, 2015, Annals of gastroenterology.

A Randomized, Double Blind, Placebo-Controlled Trial of Pioglitazone in Combination with Riluzole in Amyotrophic Lateral Sclerosis

U. Bogdahn, C. Wessig, A. Winkler, 2012, PloS one.

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

E. Puffenberger, K. Strauss, B. Wirth, 2020, The American Journal of Human Genetics.

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.

O. Steinlein, B. Schrank, S. Tzartos, 2000, Annals of Neurology.

Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis: a prospective observational study

S. Petri, A. Ludolph, D. Czell, 2015, Journal of Neurology.

Functional outlet obstruction: anismus, spastic pelvic floor syndrome, and dyscoordination of the voluntary sphincter muscles. Definition, diagnosis, and treatment from the neurologic point of view.

B. Schrank, W. Jost, O. Leiss, 1999, Scandinavian journal of gastroenterology.

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

K. Bushby, F. Muntoni, A. Schapira, 2013, Human mutation.

W. Oertel, A. Spottke, R. Dodel, 2010, Journal of Neurology.

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease

B. Wirth, R. Boostani, S. Yılmaz, 2021, Human mutation.

Defecatory disorders in de novo Parkinsonians--colonic transit and electromyogram of the external anal sphincter.

B. Schrank, W. Jost, 1998, Wiener Klinische Wochenschrift.

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency

B. Schrank, R. Horvath, B. Schoser, 2017, Neuromuscular Disorders.

Interaction Between a Putative Mechanosensory Membrane Channel and a Collagen

R. Waterston, B. Schrank, Jingdong Liu, 1996, Science.

Socioeconomic burden of amyotrophic lateral sclerosis, myasthenia gravis and facioscapulohumeral muscular dystrophy

W. Oertel, A. Spottke, R. Dodel, 2009, Journal of Neurology.

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

B. Schlotter-Weigel, M. Vorgerd, Hanns Lochmüller, 2013, Orphanet Journal of Rare Diseases.

Prognostic factors in ALS: a comparison between Germany and China

A. Winkler, J. Dreyhaupt, S. Petri, 2019, Journal of Neurology.

Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study

S. Petri, A. Blaschek, B. Schrank, 2022, Journal of neuromuscular diseases.

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε‐acetylcholine receptor subunit mutation

O. Steinlein, B. Schrank, S. Tzartos, 2000 .

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

B. Schrank, W. Rossoll, S. Jablonka, 2000, Human molecular genetics.

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

A. Smith, B. Schrank, K. Toyka, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

B. Wirth, R. Boostani, R. Heller, 2018, Human mutation.

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.

S. Scherer, P. Taschner, A. Odermatt, 1997, Genomics.