Suchergebnisse - "Kyriakos Martakis"

Author response for 'Bone microarchitecture assessed by Trabecular Bone Score is independent of mobility level or height in pediatric patients with cerebral palsy'

Autoren: Eckhard Schoenau Renaud Winzenrieth Heike Hoyer-Kuhn et al.

Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol

Autoren: Driedger, Jan H. Schröter, Julian Hertzberg, Christoph et al.

Quelle: Orphanet Journal of Rare Diseases; Dec2025, Vol. 20 Issue 1, p1-10, 10p

Schlagwörter: TUBEROUS sclerosis, MTOR inhibitors, BODY surface area, CLINICAL trials, INFANTILE spasms, TODDLERS development

Author response for 'Bone microarchitecture assessed by Trabecular Bone Score is independent of mobility level or height in pediatric patients with cerebral palsy'

Autoren: Mirko Rehberg Manuela Azim Kyriakos Martakis et al.

Verfügbarkeit: http://dx.doi.org/10.1002/jbmr.4047/v2/response1

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.

Autoren: Pechmann, Astrid Behrens, Max Dörnbrack, Katharina et al.

Quelle: Orphanet Journal of Rare Diseases; 10/23/2022, Vol. 17 Issue 1, p1-10, 10p

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.

Autoren: Brémovà-Ertl, Tatiana Tahirovic, Sabina Katušić Hećimović, Silva et al.

Quelle: Frontiers in Neurology; 2025, p1-6, 6p

Schlagwörter: HETEROZYGOSITY, NIEMANN-Pick diseases, PHENOTYPES, GENETIC variation, TREATMENT effectiveness, NEUROLOGIC manifestations of general diseases, LYSOSOMAL storage diseases

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.

Autoren: Vill, Katharina Tacke, Moritz König, Anna et al.

Quelle: Journal of Neurology; May2024, Vol. 271 Issue 5, p2787-2797, 11p

Schlagwörter: NATURAL history, NONINVASIVE ventilation, NEWBORN screening, TUBE feeding, SPINAL muscular atrophy

Geografische Kategorien: AUSTRIA, SWITZERLAND

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen‐treated patients with spinal muscular atrophy.

Autoren: Schorling, David C. Kölbel, Heike Hentschel, Andreas et al.

Quelle: European Journal of Neurology; Jul2022, Vol. 29 Issue 7, p2084-2096, 13p

Schlagwörter: CATHEPSIN D, SPINAL muscular atrophy, CEREBROSPINAL fluid, ENZYME-linked immunosorbent assay, OLDER patients

Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study.

Autoren: Pechmann, Astrid Behrens, Max Dörnbrack, Katharina et al.

Quelle: Journal of Neuromuscular Diseases; 2023, Vol. 10 Issue 1, p29-40, 12p

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Autoren: Park, Julien Bremova-Ertl, Tatiana Brands, Marion et al.

Quelle: Journal of Neurology; Oct2024, Vol. 271 Issue 10, p6888-6902, 15p

Schlagwörter: HEALTH outcome assessment, CEREBELLAR ataxia, CAREGIVERS, LYSOSOMAL storage diseases, SYMPTOMS

Multivariable reference centiles for maximum grip strength in childhood to young adults.

Autoren: Duran, Ibrahim Wloka, Kim Ramona Martakis, Kyriakos et al.

Quelle: European Journal of Clinical Nutrition; Jun2024, Vol. 78 Issue 6, p494-500, 7p

Schlagwörter: REFERENCE values, REPEATED measures design, BODY mass index, SEX distribution, MULTIPLE regression analysis, AGE distribution, RETROSPECTIVE studies, DESCRIPTIVE statistics, STATURE, GRIP strength, ALGORITHMS

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

Autoren: Pechmann, Astrid Behrens, Max Dörnbrack, Katharina et al.

Quelle: Brain: A Journal of Neurology; Feb2023, Vol. 146 Issue 2, p668-677, 10p

Schlagwörter: SPINAL muscular atrophy, NEUROMUSCULAR diseases, MUSCLE weakness, CHILDREN'S hospitals, MOVEMENT disorders

Firma/Körperschaft: CHILDREN'S Hospital of Philadelphia, WORLD Health Organization, EUROPEAN Medicines Agency

Efficacy and Safety of N-Acetyl-L-Leucine in Children and Adults With GM2 Gangliosidoses.

Autoren: Martakis, Kyriakos Claassen, Jens Gascon-Bayari, Jordi et al.

Quelle: Neurology; 3/7/2023, Vol. 100 Issue 10, pe1072-e1083, 12p

Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany.

Autoren: Thangavelu, Kruthika Martakis, Kyriakos Feldmann, Silke et al.

Quelle: International Journal of Neonatal Screening (IJNS); Dec2023, Vol. 9 Issue 4, p61, 12p

Jumping Mechanography: Reference Centiles in Childhood and Introduction of the Nerve–Muscle Index to Quantify Motor Efficiency.

Autoren: Martakis, Kyriakos Alexy, Ute Stark, Christina et al.

Quelle: Journal of Clinical Medicine; Sep2023, Vol. 12 Issue 18, p5984, 13p

Schlagwörter: PERCENTILES, GROUND reaction forces (Biomechanics), CHILD development, CHILDHOOD obesity, RELATIVE velocity

Geografische Kategorien: DORTMUND (Germany)

Bone Microarchitecture Assessed by Trabecular Bone Score Is Independent of Mobility Level or Height in Pediatric Patients with Cerebral Palsy.

Autoren: Rehberg, Mirko Azim, Manuela Martakis, Kyriakos et al.

Quelle: Journal of Bone & Mineral Research; Sep2020, Vol. 35 Issue 9, p1685-1694, 10p

Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C.

Autoren: Bremova-Ertl, Tatiana Claassen, Jens Foltan, Tomas et al.

Quelle: Journal of Neurology; Mar2022, Vol. 269 Issue 3, p1651-1662, 12p

Schlagwörter: NIEMANN-Pick diseases, ADVERSE health care events, LIKERT scale

Abstracts.

Quelle: Journal of Inherited Metabolic Disease; Aug2024 Supplement 1, Vol. 47, p1-477, 477p

Association of muscle mass and fat mass on low-density-lipoprotein cholesterol and triglyceride plasma concentration in children and adolescents.

Autoren: Martakis, Kyriakos Stark, Christina Rehberg, Mirko et al.

Quelle: Journal of Pediatric Endocrinology & Metabolism; Oct2021, Vol. 34 Issue 10, p1273-1282, 10p

Referral rate and false-positive rates in a hearing screening program among high-risk newborns.

Autoren: Thangavelu, Kruthika Martakis, Kyriakos Feldmann, Silke et al.

Quelle: European Archives of Oto-Rhino-Laryngology; Oct2023, Vol. 280 Issue 10, p4455-4465, 11p

Schlagwörter: NEWBORN infants, AGE, SCREEN time, GESTATIONAL age, HEARING disorders

Association of Trunk/Leg Fat Mass Ratio with Low-Density Lipoproteins-Cholesterol and Triglycerides Concentration in Children and Adolescents: A Cross-Sectional, Retrospective Study.

Autoren: Duran, Ibrahim Martakis, Kyriakos Alberg, Evelyn et al.

Quelle: Childhood Obesity; Sep2020, Vol. 16 Issue 6, p428-439, 12p