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1.
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Hum Mol Genet
; 30(22): 2068-2081, 2021 11 01.
Article
in English
| MEDLINE | ID: mdl-34170319
2.
PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.
Cerebellum
; 22(6): 1137-1151, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-36219306
3.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain
; 145(6): 1916-1923, 2022 06 30.
Article
in English
| MEDLINE | ID: mdl-35202461
4.
Cerebral Abnormalities in Spina Bifida: A Neuropathological Study.
Pediatr Dev Pathol
; 25(2): 107-123, 2022.
Article
in English
| MEDLINE | ID: mdl-34614376
5.
Concurrent axon and myelin destruction differentiates X-linked adrenoleukodystrophy from multiple sclerosis.
Glia
; 69(10): 2362-2377, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34137074
6.
Congenital microcephaly-linked CDK5RAP2 affects eye development.
Ann Hum Genet
; 84(1): 87-91, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31355417
7.
Microglia damage precedes major myelin breakdown in X-linked adrenoleukodystrophy and metachromatic leukodystrophy.
Glia
; 67(6): 1196-1209, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30980503
8.
Phenotype of matrin-3-related distal myopathy in 16 German patients.
Ann Neurol
; 76(5): 669-80, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25154462
9.
Experimental investigation and histopathological identification of acute thermal damage in skeletal porcine muscle in relation to whole-body SAR, maximum temperature, and CEM43 °C due to RF irradiation in an MR body coil of birdcage type at 123 MHz.
Int J Hyperthermia
; 31(4): 409-20, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25716768
10.
CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly.
Cereb Cortex
; 23(9): 2245-60, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-22806269
11.
Quantitative whole-body muscle MRI in idiopathic inflammatory myopathies including polymyositis with mitochondrial pathology: indications for a disease spectrum.
J Neurol
; 271(6): 3186-3202, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38438820
12.
Eosinophils in hereditary and inflammatory myopathies.
Acta Myol
; 32(3): 148-53, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24803842
13.
Polymyositis with cytochrome C oxidase negative fibers--a pathological and clinical challenge.
Ann Diagn Pathol
; 17(2): 183-6, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23181976
14.
Systemic inflammation disrupts the developmental program of white matter.
Ann Neurol
; 70(4): 550-65, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21796662
15.
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
J Neuromuscul Dis
; 9(4): 533-541, 2022.
Article
in English
| MEDLINE | ID: mdl-35694932
16.
Time course of skeletal muscle regeneration after severe trauma.
Acta Orthop
; 82(1): 102-11, 2011 Feb.
Article
in English
| MEDLINE | ID: mdl-21142822
17.
Systematic Classification of Spina Bifida.
J Neuropathol Exp Neurol
; 80(4): 294-305, 2021 03 22.
Article
in English
| MEDLINE | ID: mdl-33576426
18.
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.
Mol Cell Biol
; 26(5): 1879-87, 2006 Mar.
Article
in English
| MEDLINE | ID: mdl-16479006
19.
The congenital clubfoot - immunohistological analysis of the extracellular matrix.
Orthop Res Rev
; 10: 55-62, 2018.
Article
in English
| MEDLINE | ID: mdl-30774460
20.
Immunomodulatory placental-expanded, mesenchymal stromal cells improve muscle function following hip arthroplasty.
J Cachexia Sarcopenia Muscle
; 9(5): 880-897, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30230266