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A. Huebner · SciRah

Researcher profile · Semantic Scholar

A. Huebner

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A. Huebner — researcher profile on SciRah

h-index: 45
Works: 204
Citations: 6,372

Most-cited papers

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy
D. Hicks, A. Sarkozy, N. Muelas, K. Koehler +17 more
2011Brain : a journal of neurology208 citations Open access
Semantic Scholar
Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas
C. Pamporaki, B. Hamplová, M. Peitzsch, A. Prejbisz +13 more
2017Journal of Clinical Endocrinology and Metabolism160 citations Open access
Semantic Scholar
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
C. Michot, L. Hubert, M. Brivet, L. D. De Meirleir +18 more
2010Human Mutation136 citations Open access
Semantic Scholar
Diabetes and Neurodegeneration in Wolfram Syndrome
J. Rohayem, C. Ehlers, B. Wiedemann, R. Holl +8 more
2011Diabetes Care124 citations Open access
Semantic Scholar
Congenital myasthenic syndromes: Achievements and limitations of phenotype‐guided gene‐after‐gene sequencing in diagnostic practice: A study of 680 patients
A. Abicht, M. Dusl, C. Gallenmüller, V. Guergueltcheva +10 more
2012Human Mutation120 citations Open access
Semantic Scholar
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission
A. Chaouch, Vito Porcelli, D. Cox, S. Edvardson +21 more
2014Journal of Neuromuscular Diseases91 citations Open access
Semantic Scholar
Triple A syndrome: 32 years experience of a single centre (1977–2008)
T. Milenković, D. Zdravković, N. Savić, S. Todorović +3 more
2010European Journal of Pediatrics72 citations
Semantic Scholar
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
K. Koehler, M. Malik, S. Mahmood, Sebastian Giesselmann +28 more
2013American Journal of Human Genetics67 citations Open access
Semantic Scholar
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil
V. Mihaylova, R. Scola, B. Gervini, P. Lorenzoni +9 more
2010Journal of Neurology Neurosurgery & Psychiatry61 citations Open access
Semantic Scholar
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
C. Gallenmüller, W. Müller-Felber, M. Dusl, R. Stucka +7 more
2014Neuromuscular Disorders59 citations Open access
Semantic Scholar
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
V. Lehtokari, K. Pelin, Á. Herczegfalvi, V. Karcagi +9 more
2011Neuromuscular Disorders59 citations
Semantic Scholar
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations
H. Shima, K. Koehler, Yumiko Nomura, K. Sugimoto +8 more
2017Journal of Medical Genetics55 citations
Semantic Scholar
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
K. Koehler, Miroslav P. Milev, Keshika Prematilake, F. Reschke +9 more
2016Journal of Medical Genetics50 citations
Semantic Scholar
Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis
Ramona Jühlen, Jan Idkowiak, A. Taylor, B. Kind +3 more
2015PLoS ONE50 citations Open access
Semantic Scholar
The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation
S. Carvalhal, S. Ribeiro, M. Arocena, Taciana Kasciukovic +4 more
2015Molecular Biology of the Cell48 citations Open access
Semantic Scholar
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome
M. Dumić, N. Barišić, V. Kušec, K. Stingl +4 more
2012European Journal of Pediatrics46 citations
Semantic Scholar
International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents
Ruth T. Casey, Emile Hendriks, Cheri L. Deal, S. Waguespack +36 more
2024Nature Reviews Endocrinology45 citations Open access
Semantic Scholar
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK
Federica Buonocore, A. Maharaj, Y. Qamar, K. Koehler +26 more
2021Journal of the Endocrine Society45 citations Open access
Semantic Scholar
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
Heba Farag, S. Froehler, K. Oexle, Ethiraj Ravindran +6 more
2013Orphanet Journal of Rare Diseases43 citations Open access
Semantic Scholar
Biochemical Diagnosis of Catecholamine-Producing Tumors of Childhood: Neuroblastoma, Pheochromocytoma and Paraganglioma
G. Eisenhofer, M. Peitzsch, N. Bechmann, A. Huebner
2022Frontiers in Endocrinology37 citations Open access
Semantic Scholar
Intracellular ROS level is increased in fibroblasts of triple A syndrome patients
B. Kind, K. Koehler, M. Krumbholz, D. Landgraf +1 more
2010Journal of molecular medicine36 citations
Semantic Scholar
Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature
H. Patt, K. Koehler, S. Lodha, S. Jadhav +11 more
2017Endocrine Connections33 citations Open access
Semantic Scholar
Age-specific pediatric reference intervals for plasma free normetanephrine, metanephrine, 3-methoxytyramine and 3-O-methyldopa: Particular importance for early infancy.
M. Peitzsch, Anastasios Mangelis, G. Eisenhofer, A. Huebner
2019Clinica chimica acta; international journal of clinical chemistry31 citations
Semantic Scholar
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy
M. Dumić, N. Barišić, N. Rojnić-Putarek, V. Kušec +3 more
2010European Journal of Pediatrics30 citations
Semantic Scholar
Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child
M. C. B. V. Fragoso, Edoarda Vasco de Albuquerque Albuquerque, Ana Luiza de Almeida Cardoso, Paula Waki Lopes da Rosa +10 more
2017Hormone Research in Paediatrics28 citations Open access
Semantic Scholar
Triple A (Allgrove) syndrome: an unusual association with syringomyelia
C. Bizzarri, Danila Benevento, C. Terzi, A. Huebner +1 more
2013Italian Journal of Pediatrics28 citations Open access
Semantic Scholar
Biochemical testing for neuroblastoma using plasma free 3‐O‐methyldopa, 3‐methoxytyramine, and normetanephrine
M. Peitzsch, E. Butch, Elizabeth A. Lovorn, Anastasios Mangelis +7 more
2019Pediatric Blood & Cancer26 citations Open access
Semantic Scholar
Planar cell polarity effector gene Intu regulates cell fate-specific differentiation of keratinocytes through the primary cilia
D. Dai, L. Li, A. Huebner, H. Zeng +4 more
2012Cell Death and Differentiation25 citations Open access
Semantic Scholar
Cancer Stem Cells in Pheochromocytoma and Paraganglioma
L. Scriba, S. Bornstein, A. Santambrogio, G. Mueller +7 more
2020Frontiers in Endocrinology24 citations Open access
Semantic Scholar
Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement
J. Rohayem, H. Drechsel, B. Tittel, G. Hahn +2 more
2016Hormone Research in Paediatrics24 citations Open access
Semantic Scholar
Identification of a novel putative interaction partner of the nucleoporin ALADIN
Ramona Jühlen, D. Landgraf, A. Huebner, K. Koehler
2016Biology Open22 citations Open access
Semantic Scholar
“Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports
D. Tibussek, Sujal Ghosh, A. Huebner, J. Schaper +2 more
2018BMC Pediatrics20 citations Open access
Semantic Scholar
Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
H. Nowotny, Uta Neumann, V. Tardy-Guidollet, S. F. Ahmed +38 more
2022European Journal of Endocrinology18 citations Open access
Semantic Scholar
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.
M. Kottlors, O. Moske-Eick, A. Huebner, S. Krause +7 more
2010Journal of Neurological Sciences18 citations
Semantic Scholar
Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry
H. Hoyer-Kuhn, A. Huebner, Anette Richter-Unruh, M. Bettendorf +9 more
2021Endocrine Connections17 citations Open access
Semantic Scholar
ALADIN is required for the production of fertile mouse oocytes
S. Carvalhal, Michelle Stevense, K. Koehler, R. Naumann +3 more
2016bioRxiv16 citations Open access
Semantic Scholar
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
J. Petersen, T. Kuntzer, D. Fischer, M. von der Hagen +7 more
2015BMC Neurology16 citations Open access
Semantic Scholar
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome
K. Koehler, M. Schuelke, A. Hell, M. Schittkowski +2 more
2019American Journal of Medical Genetics. Part A15 citations Open access
Semantic Scholar
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.
T. Chamova, S. Bichev, T. Todorov, M. Gospodinova +14 more
2017Neuromuscular Disorders15 citations
Semantic Scholar
Changes in Differential Gene Expression in Fibroblast Cells from Patients with Triple A Syndrome under Oxidative Stress
K. Koehler, K. End, B. Kind, D. Landgraf +2 more
2013Hormone and Metabolic Research14 citations
Semantic Scholar
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
Chiara Palka, Rossella Giuliani, Francesco Brancati, A. Mohn +7 more
2010Clinical Genetics14 citations
Semantic Scholar
Very early and severe presentation of Triple A syndrome – case report and review of the literature
M. Cehic, K. Mitrović, R. Vuković, T. Milenković +8 more
2024Frontiers in Endocrinology13 citations Open access
Semantic Scholar
Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient
K. Kobus, D. Hartl, C. Ott, M. Osswald +11 more
2015PLoS ONE12 citations Open access
Semantic Scholar
Low bone mineral density for age/osteoporosis in triple A syndrome—an overlooked symptom of unexplained etiology
Miroslav Dumić, Nataša Rojnić Putarek, Vesna Kušec, Nikola Barišić +2 more
2016Osteoporosis International11 citations
Semantic Scholar
Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers
Ramona Jühlen, D. Landgraf, A. Huebner, K. Koehler
2018Cell Division10 citations Open access
Semantic Scholar
Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty
Haidar Bustanji, Bashar Sahar, A. Huebner, K. Ajlouni +3 more
2015Journal of Pediatric Endocrinology & Metabolism (JPEM)10 citations Open access
Semantic Scholar
Two Patients with an Identical Novel Mutation in the AAAS Gene and Similar Phenotype of Triple A (Allgrove) Syndrome
I. Krull, M. M.-Woelfle, K. Bärlocher, K. Koehler +2 more
2010Experimental and clinical endocrinology & diabetes10 citations
Semantic Scholar
More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation
M. Bienias, A. Gabrielyan, Linda Geberzahn, A. Rösen-Wolff +7 more
2020Pediatric Allergy and Immunology8 citations
Semantic Scholar
Effects of adolescence-onset hypogonadism on metabolism, bone mineral density and quality of life in adulthood
F. Tam, A. Huebner, L. Hofbauer, J. Rohayem
2015Journal of Pediatric Endocrinology & Metabolism (JPEM)8 citations Open access
Semantic Scholar
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.
J. Haberlova, Zoran Mitrović, K. Žarković, D. Lovrić +12 more
2014Neuromuscular Disorders8 citations
Semantic Scholar

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K. Koehler×21
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M. von der Hagen×8
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