C. Rauscher

发表

Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B

T. Meitinger, E. Pataraia, F. Zimprich, 2021, Seizure.

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

W. Schmidt, W. Sperl, M. Freilinger, 2022, Orphanet Journal of Rare Diseases.

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.

A. Blaschek, J. Denecke, B. Plecko, 2021, The Lancet. Child & adolescent health.

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

B. Schlotter-Weigel, M. Blankenburg, P. Huppke, 2022, Orphanet Journal of Rare Diseases.

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

H. Prokisch, T. Haack, U. Ahting, 2015, Orphanet Journal of Rare Diseases.

Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect

H. Prokisch, R. Rodenburg, W. Sperl, 2010, Neuropediatrics.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

B. Weschke, M. Verbeek, G. Mancini, 2010, Brain : a journal of neurology.

Outcome of severe unilateral cerebellar hypoplasia

T. Huisman, D. Prayer, C. Limperopoulos, 2009, Developmental medicine and child neurology.

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

T. Pieber, W. Löscher, J. Senderek, 2011, Journal of Neurology.

Pontine tegmental cap dysplasia: the severe end of the clinical spectrum.

T. Neuhann, A. Poretti, S. Tinschert, 2009, Neuropediatrics.

A 1.1 Million Base Pair X-Chromosomal Deletion Covering the PDHA1 and CDKL5 Genes in a Female Patient with West Syndrome and Pyruvate Oxidation Deficiency

C. Fauth, J. Zschocke, W. Sperl, 2012, Neuropediatrics.

MRI and proton spectroscopy in Lowe syndrome.

E. Boltshauser, E. Martin, J. Schneider, 2001, Neuropediatrics.

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

H. Prokisch, T. Haack, O. Bodamer, 2011, Molecular genetics and metabolism.

CAD mutations and uridine-responsive epileptic encephalopathy

T. Meitinger, T. Strom, H. Prokisch, 2017, Brain : a journal of neurology.

A Case of Ohtahara Syndrome with Olivary–dentate Dysplasia and Agenesis of Mamillary Bodies

G. Ladurner, E. Trinka, W. Sperl, 2001, Epilepsia.

Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion

W. Sperl, O. Rittinger, Raphael J. Morscher, 2017, Seizure.