D. Gläser

发表

Genetic diagnosis of Mendelian disorders via RNA sequencing

Thomas Meitinger, Gabi Kastenmüller, Jerzy Adamski, 2017, Nature Communications.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Robert W. Taylor, Daniel M Bader, J. Gagneur, 2017, Nature Communications.

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene

S. Mansour, S. Holder, A. Norman, 2003, Human mutation.

Mitotic behavior of expanded CGG repeats studied on cultured cells: further evidence for methylation-mediated triplet repeat stability in fragile X syndrome.

W. Vogel, D. Gläser, P. Steinbach, 1999, American journal of medical genetics.

Two patients with GMPPB mutation: The overlapping phenotypes of limb‐girdle myasthenic syndrome and limb‐girdle muscular dystrophy dystroglycanopathy

B. Schoser, J. Kirschke, D. Karampinos, 2016, Muscle & nerve.

Muscle MRI findings in limb girdle muscular dystrophy type 2L

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

Novel SBF2 mutations and clinical spectrum of Charcot‐Marie‐Tooth neuropathy type 4B2

B. Schlotter-Weigel, R. Horvath, J. Weis, 2018, Clinical genetics.

Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3

B. Schoser, J. Müller‐Höcker, D. Gläser, 2008, American journal of medical genetics. Part A.

Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy

B. Wirth, D. Gläser, K. Eggermann, 2020, Medizinische Genetik.

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients

B. Schoser, F. Montagnese, D. Gläser, 2020, Journal of Neurology.

Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?

A. Blaschek, H. Kölbel, D. Gläser, 2022, Journal of neuromuscular diseases.

Spinal Muscular Atrophy -Is Newborn Screening Too Late for Children with Two SMN2 Copies?

A. Blaschek, S. Burggraf, H. Kölbel, 2022, Journal of neuromuscular diseases.

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

D. Horn, R. Siebert, G. Kristiansen, 2021, Journal of Medical Genetics.

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

B. Wirth, A. Blaschek, B. Olgemöller, 2021, Orphanet Journal of Rare Diseases.

Newborn Screening for SMA - Results After Two Years of a Large Pilot Project

B. Wirth, A. Blaschek, B. Olgemöller, 2020 .

Diagnose und Therapie des Late-onset-Morbus-Pompe

M. Vorgerd, B. Schoser, Z. Lukacs, 2013, Der Nervenarzt.

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.

B. Schlotter-Weigel, I. Borggraefe, A. Blaschek, 2017, Journal of neuromuscular diseases.

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

M. Vorgerd, S. Zierz, K. Eger, 2008, Journal of Inherited Metabolic Disease.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

T. Strom, A. Blaschek, B. Dräger, 2018, Human Genetics.

Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3‐qter

K. Zerres, T. Eggermann, B. Horsthemke, 2005, Clinical genetics.

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

B. Schoser, S. Wenninger, S. Zierz, 2016, Journal of Neurology.

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother

A. Ludolph, C. Kubisch, K. Friedrich, 2014, Journal of the Neurological Sciences.

Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

B. Oostra, I. Kennerknecht, E. Graaff, 1997, American journal of human genetics.

Overlap Phenotype between CMT1A and Hereditary Neuropathy with Liability to Pressure Palsies Caused by the Novel Small In-frame Deletion c.407_418del12 in PMP22 Gene

D. Gläser, W. Müller-Felber, K. Vill, 2014, Neuropediatrics.

One Year of Newborn Screening for SMA – Results of a German Pilot Project

B. Wirth, A. Blaschek, B. Olgemöller, 2019, Journal of neuromuscular diseases.

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

P. Bauer, M. Reuter, A. Reis, 2016, Journal of Medical Genetics.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

T. Strom, A. Blaschek, B. Dräger, 2018, Human Genetics.

Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene

S. Zierz, D. Gläser, P. Joshi, 2020, Journal of Clinical Neuroscience.

Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping

J. Weis, W. Kress, D. Gläser, 2014, Neuromuscular Disorders.

The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat.

W. Vogel, W. Vogel, D. Gläser, 1998, American journal of human genetics.

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.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?1

B. Wirth, A. Blaschek, S. Burggraf, 2020, Journal of neuromuscular diseases.

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.

W. Vogel, W. Vogel, D. Gläser, 1998, Journal of medical genetics.

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

K. Claeys, M. Gaeta, R. Kley, 2015, Neuromuscular Disorders.

Problems in detecting mosaic DNA methylation in Angelman syndrome

B. Janssen, B. Dworniczak, B. Horsthemke, 2003, European Journal of Human Genetics.

Analysis of spectrum and frequencies of mutations in McArdle disease

M. Vorgerd, P. Chinnery, H. Schreiber, 2007, Journal of Neurology.

Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene

M. Walter, D. Gläser, W. Müller-Felber, 2015, Neuropediatrics.

[Diagnosis and therapy of late onset Pompe disease].

M. Vorgerd, B. Schoser, Z. Lukacs, 2013, Der Nervenarzt.

Novel SLC9A6 mutations in two families with Christianson syndrome

R. Krüger, A. Dufke, O. Riess, 2013, Clinical genetics.

Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants

M. Vorgerd, A. Hentschel, A. Unger, 2023, International journal of molecular sciences.

Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany

A. Blaschek, A. von Moers, I. Brockow, 2022, Journal of neuromuscular diseases.

[Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy].

R. Dodel, B. Schoser, R. Schröder, 2018, Fortschritte der Neurologie-Psychiatrie.

Neugeborenenscreeningprogramm für die spinale Muskelatrophie

A. Blaschek, G. Hoffmann, G. Bernert, 2021, Der Nervenarzt.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

David L. Bennett, T. Hornemann, S. Züchner, 2023, Brain : a journal of neurology.

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother

A. Ludolph, C. Kubisch, K. Friedrich, 2014, Journal of the Neurological Sciences.