Birgit Kauffmann

Bremen, HB, Germany

Last Updated: 09/26/2026

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Found 10 publications

Functional Outcomes and Safety of Endovascular Thrombectomy in Pediatric Acute Ischemic Stroke With Cardiac Abnormalities.

Functional Outcomes and Safety of Endovascular Thrombectomy in Pediatric Acute Ischemic Stroke With Cardiac Abnormalities.

Journal: Neurology

Published: July 21, 2026

Beyond Ocular Malformations: RARB Variants Presenting as Isolated Pediatric Movement Disorder.

Beyond Ocular Malformations: RARB Variants Presenting as Isolated Pediatric Movement Disorder.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: May 19, 2026

Characterization of children with early onset pediatric multiple sclerosis.

Characterization of children with early onset pediatric multiple sclerosis.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: August 17, 2024

Endovascular thrombectomy for childhood stroke (Save ChildS Pro): an international, multicentre, prospective registry study.

Endovascular thrombectomy for childhood stroke (Save ChildS Pro): an international, multicentre, prospective registry study.

Journal: The Lancet. Child & adolescent health

Published: April 28, 2024

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Journal: JAMA pediatrics

Published: April 08, 2024

Frequency of an intrathecal IgM synthesis and MRZ reaction in children with MS.

Frequency of an intrathecal IgM synthesis and MRZ reaction in children with MS.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: December 09, 2023

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Journal: Brain : a journal of neurology

Published: August 09, 2023

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Journal: Human molecular genetics

Published: February 04, 2019

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Journal: Human molecular genetics

Published: September 07, 2018

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Journal: Nature genetics

Published: July 08, 2014

Showing 1-10 of 10

Last Updated: 09/26/2026