Autor: "Haliloglu G" - OpacWWW

Skocz do pozycji: 1 1.

Tytuł :: Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvements.
Autorzy :: Haliloglu G; Hacettepe University Children's Hospital, Department of Pediatric Neurology, 06100 Ankara, Turkey.
Karaduman A; Hacettepe University Children's Hospital, Department of Pediatric Neurology, 06100 Ankara, Turkey.
Topaloglu H; Hacettepe University Children's Hospital, Department of Pediatric Neurology, 06100 Ankara, Turkey. Electronic address: .; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2017 Oct; Vol. 27 (10), pp. 973. Date of Electronic Publication: 2017 Jul 03.
Typ publikacji :: Letter; Comment
MeSH Terms :: Muscular Dystrophy, Duchenne*
Humans ; Italy
: Opinia redakcyjna

Szczegóły

Skocz do pozycji: 2 2.

Tytuł :: Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Autorzy :: Beecroft SJ; Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
McLean CA; Victorian Neuromuscular Laboratory, Alfred Health, Commercial Rd, Prahran, Vic. 3181, Australia.
Delatycki MB; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Vic. 3052, Australia; Victorian Clinical Genetics Services, Parkville, Vic. 3052, Australia.
Koshy K; Launceston General Hospital, Launceston, Tas. 7250, Australia.
Yiu E; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Vic. 3052, Australia; Neurology Department, Royal Children's Hospital, Melbourne, Vic. 3052, Australia.
Haliloglu G; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara 06100, Turkey.
Orhan D; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara 06100, Turkey.
Lamont PJ; Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Australia.
Davis MR; Neurogenetic Unit, Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Nedlands, WA 6009, Australia.
Laing NG; Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia; Neurogenetic Unit, Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Nedlands, WA 6009, Australia.
Ravenscroft G; Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia. Electronic address: .; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2017 Jul; Vol. 27 (7), pp. 607-615. Date of Electronic Publication: 2017 May 05.
Typ publikacji :: Journal Article
MeSH Terms :: Cytoplasmic Dyneins/*genetics
Mutation/*genetics
Neuromuscular Diseases/*genetics
Adenosine Triphosphatases/metabolism ; Adolescent ; Adult ; Aged ; Australia ; Child ; Child, Preschool ; Family Health ; Female ; Genetic Association Studies ; Humans ; Infant ; Male ; Middle Aged ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Myosins/metabolism ; Neuromuscular Diseases/pathology ; Phenotype ; Turkey ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: Corrigendum to "Challenges in pediatric chronic inflammatory demyelinating polyneuropathy" [Neuromuscular Disorders 26/12 (2016) 817-824].
Autorzy :: Haliloğlu G; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.
Yüksel D; Department of Pediatric Neurology, Sami Ulus Children's Hospital, Ankara, Turkey.
Temoçin CM; Department of Neurology, Hacettepe University, Ankara, Turkey.
Topaloğlu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey. Electronic address: .; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2017 May; Vol. 27 (5), pp. e3. Date of Electronic Publication: 2017 Mar 07.
Typ publikacji :: Journal Article; Published Erratum
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 4 4.

Tytuł :: Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.
Autorzy :: Ardicli D; Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Gocmen R; Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Talim B; Department of Pediatrics, Pathology Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Sprute R; University Hospital Cologne, Department of Pediatrics, Kerpener Str. 62, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.
Haliloglu G; Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Cirak S; University Hospital Cologne, Department of Pediatrics, Kerpener Str. 62, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.
Topaloglu H; Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. Electronic address: .; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2017 Mar; Vol. 27 (3), pp. 239-242. Date of Electronic Publication: 2016 Dec 23.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Movement Disorders*/etiology
Movement Disorders*/genetics
Movement Disorders*/physiopathology
Muscular Dystrophies, Limb-Girdle*/complications
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/metabolism
Muscular Dystrophies, Limb-Girdle*/physiopathology
Dystroglycans/*deficiency
Protein Kinases/*genetics
Adolescent ; Humans ; Male
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 5 5.

Tytuł :: Challenges in pediatric chronic inflammatory demyelinating polyneuropathy.
Autorzy :: Haliloğlu G; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.
Yüksel D; Department of Pediatric Neurology, Sami Ulus Children's Hospital, Ankara, Turkey.
Temoçin CM; Department of Neurology, Hacettepe University, Ankara, Turkey.
Topaloğlu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey. Electronic address: .; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2016 Dec; Vol. 26 (12), pp. 817-824. Date of Electronic Publication: 2016 Sep 22.
Typ publikacji :: Journal Article
MeSH Terms :: Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/*diagnosis
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/*therapy
Adolescent ; Biomarkers/cerebrospinal fluid ; Child ; Child, Preschool ; Diagnostic Errors ; Electromyography ; Female ; Follow-Up Studies ; Humans ; Immunotherapy ; Male ; Neural Conduction ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/pathology ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/physiopathology ; Retrospective Studies ; Treatment Outcome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 6 6.

Tytuł :: Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?
Autorzy :: Main M; Department of Physiotherapy, Hammersmith Hospital, London, UK.
Mercuri E
Haliloglu G
Baker R
Kinali M
Muntoni F; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2007 Mar; Vol. 17 (3), pp. 227-30. Date of Electronic Publication: 2007 Feb 15.
Typ publikacji :: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Braces*
Foot*
Knee*
Muscular Dystrophy, Duchenne/*rehabilitation
Child ; Female ; Humans ; Pilot Projects ; Time Factors
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 7 7.

Tytuł :: Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
Autorzy :: D'Amico A; Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
Haliloglu G
Richard P
Talim B
Maugenre S
Ferreiro A
Guicheney P
Menditto I
Benedetti S
Bertini E
Bonne G
Topaloglu H; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2005 Aug; Vol. 15 (8), pp. 521-4.
Typ publikacji :: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Mutation*
Lamins/*genetics
Muscle Proteins/*genetics
Muscular Dystrophies/*genetics
Muscular Dystrophies/*physiopathology
Arginine/genetics ; Child ; DNA Mutational Analysis/methods ; Female ; Glycine/genetics ; Humans ; Infant ; Lamin Type A ; Male ; Muscle Weakness/genetics ; Muscle Weakness/physiopathology ; Neck Muscles/pathology ; Neck Muscles/physiopathology ; Selenoproteins ; Syndrome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 8 8.

Tytuł :: An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Autorzy :: Balci B; Department of Medical Biology, Hacettepe University, Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey.
Uyanik G
Dincer P
Gross C
Willer T
Talim B
Haliloglu G
Kale G
Hehr U
Winkler J
Topaloğlu H; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2005 Apr; Vol. 15 (4), pp. 271-5.
Typ publikacji :: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Intellectual Disability/*genetics
Mannosyltransferases/*genetics
Muscular Dystrophies, Limb-Girdle/*genetics
Mutation/*genetics
Adolescent ; Adult ; Alanine/genetics ; Alleles ; Child ; DNA Mutational Analysis/methods ; Female ; Humans ; Intellectual Disability/physiopathology ; Male ; Models, Molecular ; Muscular Dystrophies, Limb-Girdle/physiopathology ; Phenotype ; Polymorphism, Single Nucleotide ; Proline/genetics ; RNA, Messenger/biosynthesis ; Reverse Transcriptase Polymerase Chain Reaction/methods
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 9 9.

Tytuł :: A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Autorzy :: Dinçer P; Department of Medical Biology, Hacettepe University, Ankara, Turkey.
Balci B
Yuva Y
Talim B
Brockington M
Dinçel D
Torelli S
Brown S
Kale G
Haliloglu G
Gerçeker FO
Atalay RC
Yakicier C
Longman C
Muntoni F
Topaloglu H; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2003 Dec; Vol. 13 (10), pp. 771-8.
Typ publikacji :: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Cytoskeletal Proteins/*deficiency
Genes, Recessive/*genetics
Intellectual Disability/*genetics
Membrane Glycoproteins/*deficiency
Muscular Dystrophies/*complications
Muscular Dystrophies/*genetics
Adolescent ; Adult ; Age of Onset ; Brain/metabolism ; Brain/pathology ; Brain/physiopathology ; Child ; Chromosome Mapping ; Cytoskeletal Proteins/biosynthesis ; Cytoskeletal Proteins/genetics ; DNA Mutational Analysis ; Dystroglycans ; Female ; Genetic Testing ; Humans ; Immunohistochemistry ; Intellectual Disability/complications ; Intellectual Disability/metabolism ; Male ; Membrane Glycoproteins/biosynthesis ; Membrane Glycoproteins/genetics ; Microcephaly/genetics ; Microcephaly/pathology ; Muscle Proteins/metabolism ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiopathology ; Muscular Dystrophies/metabolism ; Turkey
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 10 10.

Tytuł :: 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.
Autorzy :: Muntoni F; Department of Paediatrics, Hammersmith Hospital, London, UK. />Bertini E
Bönnemann C
Brockington M
Brown S
Bushby K
Fiszman M
Körner C
Mercuri E
Merlini L
Hewitt J
Quijano-Roy S
Romero N
Squarzoni S
Sewry CA
Straub V
Topaloglu H
Haliloglu G
Voit T
Wewer U
Guicheney P; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2002 Nov; Vol. 12 (9), pp. 889-96.
Typ publikacji :: Congress; Research Support, Non-U.S. Gov't
MeSH Terms :: Muscular Dystrophies/*complications
Disease Models, Animal ; Eye Diseases/etiology ; Glycosyltransferases/metabolism ; Humans ; Image Processing, Computer-Assisted ; Mental Disorders/etiology ; Muscular Dystrophies/congenital ; Muscular Dystrophies/enzymology ; Muscular Dystrophies/genetics ; Muscular Dystrophies/pathology
: Raport

Szczegóły

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