J. Reimann

发表

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.

M. Tegenthoff, M. Vorgerd, M. Eisenacher, 2013, Journal of proteomics.

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole‐body 3.0‐T magnetic resonance imaging study

M. Wattjes, G. Lutterbey, R. Schröder, 2009, Acta neurologica Scandinavica.

Teaching Video NeuroImages: Propriospinal myoclonus as a sequela of Guillain-Barré syndrome

S. Paus, M. Nelles, J. Reimann, 2018, Neurology.

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

W. Rottbauer, I. Blümcke, L. Eichinger, 2010, Brain : a journal of neurology.

Pathological consequences of VCP mutations on human striated muscle.

E. Wanker, A. Noegel, V. Kimonis, 2007, Brain : a journal of neurology.

Early Changes in Skeletal Muscle of Young C22 Mice, A Model of Charcot-Marie-Tooth 1A

J. Reimann, S. Schwartz, C. Kornblum, 2021, Journal of neuromuscular diseases.

Diagnosis and Clinical Development of Sporadic Inclusion Body Myositis and Polymyositis With Mitochondrial Pathology: A Single-Center Retrospective Analysis.

Maren K. L. Winkler, S. Neudecker, J. Reimann, 2021, Journal of neuropathology and experimental neurology.

Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery

C. Elger, J. Wellmer, H. Urbach, 2011, Epilepsy & Behavior.

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

D. Turnbull, V. Hans, H. Lochmüller, 2011, Journal of Neurology.

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis

K. Claeys, J. Weis, P. Damme, 2017, Journal of Neurology.

Distinct muscle imaging patterns in myofibrillar myopathies

C. Heyer, M. Vorgerd, R. Kley, 2008, Neurology.

Towards Central Nervous System Involvement in Adults with Hereditary Myopathies

J. Reimann, C. Kornblum, 2020, Journal of neuromuscular diseases.

The genomic and clinical landscape of fetal akinesia

M. Cossée, R. Heller, A. Koy, 2019, Genetics in Medicine.

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

J. Trewhella, M. Kreissl, V. Lehtokari, 2013, Brain : a journal of neurology.

Mitochondrial dysfunction in myofibrillar myopathy

W. Kunz, S. Vielhaber, R. Schröder, 2003, Neuropathology and applied neurobiology.

Primary longitudinal adhesion structures: plectin-containing precursors of costameres in differentiating human skeletal muscle cells

P. F. van der Ven, D. Fürst, R. Schröder, 2002, Histochemistry and Cell Biology.

Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin‐Related Epidermolysis Bullosa Simplex with Muscular Dystrophy

I. Blümcke, T. Klockgether, J. Uitto, 2002, Journal of neuropathology and experimental neurology.

Association of Plectin with Z-Discs Is a Prerequisite for the Formation of the Intermyofibrillar Desmin Cytoskeleton

D. Fürst, H. Herrmann, C. Klasen, 2000, Laboratory Investigation.

Expression, localization and functional divergence of αB-crystallin and heat shock protein 27 in core myopathies and neurogenic atrophy

C. Bönnemann, D. Fischer, R. Schröder, 2002, Acta Neuropathologica.

Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods

I. Nonaka, Y. Hayashi, O. Carpén, 2003, Neuromuscular Disorders.

Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.

K. Zerres, S. Rudnik-Schöneborn, J. Weis, 2014, Clinical neuropathology.

Die multifokale motorische Neuropathie

R. Schröder, J. Reimann, S. Schmidt, 2002, Der Nervenarzt.

Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease

J. Reimann, C. Kornblum, C. von Landenberg, 2022, Neuromuscular Disorders.

Early and selective disappearance of telethonin protein from the sarcomere in neurogenic atrophy

C. Bönnemann, M. Gautel, R. Schröder, 2004, Journal of Muscle Research & Cell Motility.

ZASPopathy with childhood-onset distal myopathy

W. Kress, Daniel K. Thomas, J. Reimann, 2012, Journal of Neurology.

Structural and functional diversity of novel coronin 1C (CRN2) isoforms in muscle.

A. Noegel, R. Müller, A. Hofmann, 2009, Journal of molecular biology.

Endoplasmic Reticulum Stress Induces Myostatin High Molecular Weight Aggregates and Impairs Mature Myostatin Secretion

I. Vorberg, J. Reimann, Philip Denner, 2018, Molecular Neurobiology.

Macrophage Migration Inhibitory Factor in Normal Human Skeletal Muscle and Inflammatory Myopathies

R. Dodel, S. Schnell, J. Reimann, 2010, Journal of neuropathology and experimental neurology.

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders

N. Voermans, G. Tasca, H. Jungbluth, 2022, European journal of neurology.

Regenerative capacity and the number of satellite cells in soleus muscles of normal and mdx mice

A. Irintchev, A. Wernig, J. Reimann, 2000, Neuromuscular Disorders.

ENDPLATE DESTRUCTION DUE TO MATERNAL ANTIBODIES IN ARTHROGRYPOSIS MULTIPLEX CONGENITA

A. Vincent, L. Jacobson, J. Reimann, 2009, Neurology.

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

H. Neumann, E. Hattingen, P. Nürnberg, 2016, Brain : a journal of neurology.

The Oral Antidiabetic Pioglitazone Protects from Neurodegeneration and Amyotrophic Lateral Sclerosis-Like Symptoms in Superoxide Dismutase-G93A Transgenic Mice

B. Schürmann, G. Landreth, M. Heneka, 2005, The Journal of Neuroscience.

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

L. Schnitzler, A. Ferbert, P. van Damme, 2017, Orphanet Journal of Rare Diseases.

Myopathy and Neuropathy with Pipestem Capillaries and Vascular Activated Complement Deposition

W. Brück, J. Reimann, C. Kornblum, 2011, Neurology.

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy

C. Kuhl, K. Claeys, J. Weis, 2013, Neurology.

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

K. Zerres, S. Rudnik-Schöneborn, Zhigang Xue, 2003, Human molecular genetics.

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

J. Holton, B. Küsters, N. Voermans, 2019, Journal of Neurology.

Mass Spectrometric Profiling of Extraocular Muscle and Proteomic Adaptations in the mdx-4cv Model of Duchenne Muscular Dystrophy

D. Swandulla, M. Henry, P. Meleady, 2021, Life.

Whole‐body high‐field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita

M. Wattjes, K. Jurkat-Rott, B. Czermin, 2010, Acta neurologica Scandinavica.

Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

F. Hanefeld, H. Goebel, C. Bönnemann, 2003, Journal of the Neurological Sciences.

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

L. Eichinger, H. Goebel, D. Fischer, 2009, Human mutation.

Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

B. Wintersperger, H. Goebel, M. Vorgerd, 2008, Neuromuscular Disorders.

Making sense of missense variants in TTN-related congenital myopathies

F. Muntoni, M. Gautel, I. Richard, 2021, Acta Neuropathologica.

Mitochondrial Retinopathy.

P. Charbel Issa, R. Caswell, W. Kunz, 2021, Ophthalmology. Retina.

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls

Robert W. Taylor, W. Kunz, G. Falkous, 2017, Neurology: Genetics.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018, The Journal of clinical investigation.

Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome

J. Weis, J. Reimann, A. Roos, 2017, Journal of Neuropathology and Experimental Neurology.

Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases

A. Sickmann, E. Freier, A. Hentschel, 2020, Orphanet Journal of Rare Diseases.

Reverse protein arrays as novel approach for protein quantification in muscular dystrophies

M. Ruegg, S. Frank, H. Lochmüller, 2010, Neuromuscular Disorders.

Pax7 distribution in human skeletal muscle biopsies and myogenic tissue cultures

A. Wernig, T. Partridge, J. Beauchamp, 2004, Cell and Tissue Research.

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

G. Comi, N. Romero, G. Piluso, 2021, Acta Neuropathologica.

TIA 1 variant drives myodegeneration in multisystem proteinopathy with SQSTM 1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018 .

Structural and functional diversity of novel coronin 1 C ( CRN 2 ) isoforms in muscle

A. Noegel, R. Müller, A. Hofmann, 2017 .

Early signs of VCP-related frontotemporal dementia: a neuropsychological, FDG-PET and fMRI study

K. Herholz, E. Kalbe, R. Dodel, 2011, Journal of Neurology.

[Macrophagic myofasciitis: inflammatory, vaccination-associated muscular disease].

D. Fischer, R. Schröder, J. Reimann, 2003, Deutsche medizinische Wochenschrift.

Early and selective downregulation of telethonin in neurogenic atrophy

C. Bönnemann, M. Gautel, R. Schröder, 2001 .

Structural and functional diversity of novel coronin-1 C ( CRN 2 ) isoforms

A. Noegel, R. Müller, A. Hofmann, 2008 .

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)

K. Claeys, Jacqueline A Palace, A. Vincent, 2023, Brain : a journal of neurology.

Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives

F. Schreiner, J. Woelfle, J. Reimann, 2007, Neuromuscular Disorders.

Computed tomography derived cervical fat-free muscle fraction as an imaging-based outcome marker in patients with acute ischemic stroke: a pilot study

A. Faron, A. Radbruch, D. Paech, 2023, BMC Neurology.

Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease.

J. Reimann, C. Kornblum, C. von Landenberg, 2022, Neuromuscular disorders : NMD.