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Andreas Merkenschlager

hospital for children and adolescents
H指数:33
被引数:3,817

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De novo variants in ATP2B1 lead to neurodevelopmental delay

ATP2B1的新发变异导致神经发育迟缓

2025-11-110
PRE
High association of MOG-IgG antibodies in children with bilateral optic neuritis (vol 27, pg 86, 2020)

MOG-IgG抗体在儿童双侧视神经炎中具有高度关联性(卷27,页86,2020)

2025-11-010
PRE
Genome Sequencing for Diagnosing Rare Diseases
2024-06-0610
PRE
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome
2022-11-0130
OAAI
De novo variants in ATP2B1 lead to neurodevelopmental delay
2022-05-0111
OAAI
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

CHKA中的双等位基因变体导致癫痫和小头畸形的神经发育障碍

BRAIN
IF11.7
2022-02-245
OA
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
2022-01-1113
OAAI
Germline AGO2 mutations impair RNA interference and human neurological development

生殖系AGO2突变损害RNA干扰和人类神经发育

2020-11-1644
OAAI
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
2020-10-2830
OAAI
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients
2020-09-0347
OAAI
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
2019-12-0110
OAAI
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study
2019-05-0396
OAAI
Neurologic phenotypes associated with COL4A1/2 mutations Expanding the spectrum of disease
2018-11-27100
OAAI