A. Schindler

发表

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

K. Fischbeck, Barrington G. Burnett, S. Traore, 2016, eNeurologicalSci.

Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.

Joshua T. Burdick, K. Fischbeck, V. Cheung, 2018, Molecular cell.

Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients

A. Arai, C. Bönnemann, S. Donkervoort, 2020, Neuromuscular Disorders.

Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa

A. Singleton, K. Fischbeck, M. Fay, 2014, Annals of neurology.

α‐Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease

Sonja W. Scholz, C. Blauwendraat, D. Goldstein, 2021, Movement disorders : official journal of the Movement Disorder Society.

A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)

S. Feely, C. Siskind, J. Dalton, 2013, Journal of Genetic Counseling.

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

C. Blackstone, A. Schindler, C. Rinaldi, 2014, Journal of Clinical Neuroscience.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

K. Fischbeck, U. Suter, J. Pilch, 2011, Neurology.

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

K. Fischbeck, M. Zeviani, L. Biesecker, 2012, American journal of human genetics.

TRPV4-Associated Disorders

J. Hoover-Fong, C. Sumner, A. Schindler, 2014 .

Hereditary Spastic Paraplegia

A. Schindler, 2015 .

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

A. Vanderver, C. Blackstone, T. Pierson, 2014, Annals of clinical and translational neurology.

Clinical and molecular aspects of senataxin mutations in ALS4.

K. Fischbeck, V. Cheung, C. Grunseich, 2020, Annals of neurology.

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

K. Fischbeck, T. Lehky, Laura C. Bott, 2014, Neuromuscular Disorders.

‘Double trouble’: Diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia

C. Bönnemann, K. Wagner, S. Donkervoort, 2013, Neuromuscular Disorders.

A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype.

A. Hoke, M. Iijima, C. Grunseich, 2022, Journal of neuromuscular diseases.

A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss

K. Fischbeck, C. Blackstone, G. Landouré, 2017, Annals of clinical and translational neurology.

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

K. Fischbeck, D. Bakar, C. Tifft, 2015, Journal of Neurology.

Genetic factors modifying clinical expression of autosomal dominant RP.

E. Stone, S. Daiger, S. Bowne, 2006, Advances in experimental medicine and biology.

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease

D. Hernandez, C. Blauwendraat, J. R. Gibbs, 2021, medRxiv.

Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

T. Crawford, M. Shy, T. Heiman-Patterson, 2018, Muscle & nerve.

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

K. Fischbeck, M. Main, F. Muntoni, 2015, Neuromuscular Disorders.

SCA8 should not be tested in isolation for ataxia

C. Blackstone, A. Schindler, R. Roda, 2017, Neurology: Genetics.

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

T. Crawford, F. Muntoni, R. Weiss, 2015, Human Mutation.

Multigeneration family with dominant SPG30 hereditary spastic paraplegia

C. Blackstone, A. Schindler, R. Roda, 2017, Annals of clinical and translational neurology.

Functional ablation of the mouse Ldb1 gene results in severe patterning defects during gastrulation

A. Teufel, H. Westphal, D. Dorward, 2003, Development.

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

Sonja W. Scholz, C. Blauwendraat, H. Singer, 2017, Case Reports in Neurology.

A randomized controlled trial of exercise in spinal and bulbar muscular atrophy

C. Zampieri, K. Fischbeck, C. Grunseich, 2015, Annals of clinical and translational neurology.

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

K. Fischbeck, T. Crawford, P. Calabresi, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Laing distal myopathy pathologically resembling inclusion body myositis

A. Mammen, C. Blackstone, T. Lloyd, 2014, Annals of clinical and translational neurology.

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

M. Main, C. Bönnemann, L. Hynan, 2019, Neurology.

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial

K. Fischbeck, N. Jeffries, T. Lehky, 2011, The Lancet Neurology.

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial

K. Fischbeck, N. Jeffries, T. Lehky, 2011, The Lancet Neurology.

Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

D. Goldstein, Derek P. Narendra, P. Gonzalez-Alegre, 2019, Neurology.

Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

D. Goldstein, Derek P. Narendra, P. Gonzalez-Alegre, 2020, Neurology.

Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site

C. Blackstone, E. FitzGibbon, A. Schindler, 2016, Annals of clinical and translational neurology.

Nucleocytoplasmic transport defect in a North American patient with ALS8

K. Fischbeck, C. Grunseich, Yuebing Li, 2018, Annals of clinical and translational neurology.

De novo REEP2 missense mutation in pure hereditary spastic paraplegia

C. Blackstone, A. Schindler, R. Roda, 2017, Annals of clinical and translational neurology.

Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.

P. King, Shin J Oh, A. Schindler, 2022, Journal of clinical neuromuscular disease.

Sexual Reassignment Fails to Prevent Kennedy's Disease.

K. Fischbeck, D. Bakar, Nisha M. Badders, 2016, Journal of neuromuscular diseases.

Patient‐identified impact of symptoms in spinal and bulbar muscular atrophy

K. Fischbeck, C. Heatwole, C. Grunseich, 2017, Muscle & nerve.