Browsing Universitätsbibliographie by Author "Haack, Tobias"

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Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

Laugwitz, Lucia; Haack, Tobias (2020)
Pathogenic variants inSQORencoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Laugwitz, Lucia; Haack, Tobias (2020)
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

Laugwitz, Lucia; Buchert, Rebecca; Grimmel, Mona; Sturm, Marc; Gohla, Georg; Gröschel, Samuel; Riess, Angelika; Beck-Wödl, Stefanie; Döbler-Neumann, Marion; Krägeloh-Mann, Ingeborg; Haack, Tobias (2020)
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

Haack, Tobias; Röben, Benjamin; Synofzik, Matthis Benjamin (2017)
PRUNE1 Deficiency : Expanding the Clinical and Genetic Spectrum

Haack, Tobias (2018)
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation

Haack, Tobias (2017)
Resolution of severe hepatosteatosis in a cystic fibrosis patient with multifactorial choline deficiency: A case report

Bernhard, Wolfgang; Shunova, Anna; Grimmel, Mona; Graepler-Mainka, Ute; Machann, Jürgen; Haack, Tobias; Utz, Philipp Michael (2021)
SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Haack, Tobias (2018)
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Beck-Wödl, Stefanie; Haack, Tobias (2019)
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)

Haack, Tobias; Ossowski, Stephan (2017)
SYT1-associated neurodevelopmental disorder: a case series

Haack, Tobias (2018)
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis

Deininger, Natalie; Willikens, Sophia; Grundmann-Hauser, Kathrin; Schreiber, Melanie; Lerche, Holger; Grimm, Alexander; Zimmermann, Milan Raoul; Haack, Tobias (2021)
The genotypic and phenotypic spectrum of MTO1 deficiency

Haack, Tobias (2018)
The movement disorder spectrum of SCA21 (ATX-TMEM240) : 3 novel families and systematic review of the literature

Deininger, Natalie; Reimold, Matthias; Haack, Tobias; Traschütz, Andreas; Rieß, Olaf; Schöls, Ludger; Synofzik, Matthis Benjamin (2019)
The role of the clinician in the multi-omics era: are you ready?

Haack, Tobias (2018)
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Gehweiler, Ina; Reich, Selina; Reichbauer, Jennifer; Schüle, Rebecca; Keßler, Christoph Martin; Müller, Amelie Johanna; Haack, Tobias; Synofzik, Matthis Benjamin (2019)
Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy

Grimmel, Mona; Haack, Tobias (2021)

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