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Case Report | DOI: https://doi.org/10.31579/2690-4861/961
1 Department of Medical Genetics, Umraniye Education and Research Hospital, University of Health Sciences, Istanbul, Turkey.
2 Department of Histology and Embryology, Hamidiye International Faculty of Medicine, University of Health Sciences, Istanbul, Turkey.
3 Department of Pediatrics Neurology, Umraniye Education and Research Hospital, University of Health Sciences, Istanbul, Turkey.
*Corresponding Author: Gulam Hekimoglu, Department of Histology and Embryology, Hamidiye International Faculty of Medicine, University of Health Sciences, Istanbul, Turkey.
Citation: Metin Eser, Gulam Hekimoglu, Murat H. Yarar, Busra Kutlubay, (2025), Muscular Dystrophy-Dystroglycanopathy with a Homozygous Pathogenic Variant in the TMEM5 Gene, International Journal of Clinical Case Reports and Reviews, 29(4); DOI:10.31579/2690-4861/961
Copyright: © 2025, Gulam Hekimoglu. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Received: 01 September 2025 | Accepted: 08 September 2025 | Published: 11 September 2025
Keywords: muscular dystrophy; dystroglycanopathy; tmem5 gene; ngs
Alpha-dystroglycanopathies encompass a heterogeneous array of neuromuscular diseases arising from aberrant glycosylation of alpha-dystroglycan. These conditions have been linked to many glycosyltransferases, including TMEM5. A hereditary autosomal recessive (AR) condition has been linked to the TMEM5 gene. Three siblings who have high blood creatine kinase levels and congenital muscular dystrophy were described. Next-generation sequencing (NGS) analysis was used for genetic diagnosis. A noteworthy feature of the clinical trajectory was the somewhat heavier instances with concurrent ocular or cerebral abnormalities. A homozygous mutant area of exon 1 in the TMEM5 gene, c.139del (p.Ala47Argfs*42) frameshift variant, was discovered by NGS. This variation (nonsense) may impact the synthesis or function of proteins by degrading RNA (PVS1). Public data banks did not contain the variation (PM2). In the ClinVar database, all groups categorized the variation as pathogenic/likely pathogenic without supporting data (PP5). This work highlights the importance of TMEM5 in disease pathogenesis while broadening the clinical and mutation range of alpha-dystroglycanopathies. Our research sheds light on the molecular causes of dystroglycanopathies linked to TMEM5, provides guidance for future treatment approaches, and emphasizes the significance of thorough genetic testing for clinical care.
Congenital muscular dystrophies, referred to as dystroglycanopathies, are a group of diseases that vary in both clinical and genetic characteristics. These disorders range in severity from more severe types that frequently include ocular and brain deformities to less severe versions that don't influence the nervous system [1]. Alpha-dystroglycan is a critical cell surface receptor that mediates interactions with extracellular matrix proteins, including laminins. Its improper glycosylation is key to their pathophysiology. Alpha-dystroglycan's regular ligand-binding activity is disrupted by glycosylation dysfunction, which sets off a series of pathogenic processes [2]. Cobblestone lissencephaly, a defining feature of severe types of dystroglycanopathies, is caused by a disruption in the glia limitans, the brain's outermost sub-pial layer [3]. This condition, which represents the most severe forms of congenital muscular dystrophy, is pathognomonic for conditions including Walker-Warburg syndrome (WWS), muscle-eye-brain (MEB) disease, and Fukuyama congenital muscular dystrophy [4]. The majority of children afflicted with WWS pass away before becoming three years old, making it a disease with a dire prognosis [5,6]. Thanks to developments in molecular research, the genetic landscape of WWS has been greatly enlarged, with up to eighteen distinct genes being implicated in its etiology [7,8]. The incidence of genetic diseases, such as WWS, is elevated in consanguineous marriages, underscoring the significance of genetic screening and counseling before matrimony [8]. Neuroimaging is crucial in the diagnostic workup of whole-exome sequencing (WES), even if its use in molecular diagnostics is rising. In addition to facilitating targeted genetic screening and counseling and helping with accurate diagnosis and prognostication, comprehensive analysis and reporting of neuroimaging phenotypes may also lower the occurrence of afflicted children [9]. Durastrophin-glycoprotein complex integrity in the sarcolemma depends on dystrophin-glycan, a transmembrane protein with alpha and beta subunits. A wide range of congenital muscular dystrophies known as alpha-dystroglycanopathies are caused by dysregulation in the glycosylation of alpha-dystroglycan, and TMEM5 has emerged as a key participant in this field [9]. The transmembrane protein TMEM5 is encoded and acts as a xylosyltransferase in the alpha-dystroglycan glycosylation pathway [10]. An autosomal recessive type of congenital muscular dystrophy-dystroglycanopathy, marked by abnormalities of the brain and eyes, has been linked to mutations in TMEM5 [11]. TMEM5 mutations have a wide range of clinical symptoms, from moderate to severe, and some of these instances cause early mortality [12]. We provide a case study of a family afflicted with dystrophy-dystroglycanopathy due to homozygous pathogenic variation in the TMEM5 gene in this study. Our goals are to characterize the clinical phenomenology of afflicted members of this family and to broaden the mutational range of dystroglycanopathies linked with TMEM5.
Peripheral blood samples were collected after obtaining written informed consent. Genomic DNA was extracted from EDTA-anticoagulated peripheral blood by using Standard methods. DNA extraction from blood samples was done using the semi-automated robot as recommended by the manufacturer (Qiagen). The DNA samples' concentration and quality control (260/280 nm and 260/230 nm values) were determined by fluorometrically (Qubit v3.0) and UV spectrophotometry. Amplification of the gene region(s) associated with the disease by chain polymerase reaction (PCR) involves sequencing this region using next-generation sequencing technology. For this purpose, Twist Human Cor e Exome v2 by Sophia Genetics kit is used. The sequencing reaction is carried out using the Illumina NextSeq® system and compatible reagent kits. Raw data were analyzed via the Sophia DDM® data analysis platform. Alignment and variant findings were performed by Pepper®, a proprietary foundation algorithm from Sophia Genetics, based on the hg19 human genome reference. Variant annotation was performed with Sophia Genetics' MOKA® software and for each variant, the effect of the variant on protein sequence (missense, stop gain, etc.), the incidence in various populations (1000G, ESP, ExAC, gnomAD), prediction algorithms (SIFT, PolyPhen) Withthis, information such as the destructive effect of the variant was added. CNV detection was performed with Sophia Genetics' MUSKAT® software. For variant classification, the expert study groups of the Clinvar database (Ensembl VEP; CIMBA; ENIGMA; PharmGKB; CFTR2; ClINGEN-RAS) and the database (CMP-EP) created by Maxwell et al, were taken as references. For other variants not found in the databases, the criteria established by Maxwell et al were considered. The criteria were determined based on the American College of Medical Genetics and Genomics (ACMG) sequencing/sequence variants classification guidelines [13]. For PP2 and BP1 evidence determined at the gene level, the effect of missense variants on the mechanism of the disease was calculated by considering the Pathogenic/Likely pathogenic variants in the Clinvar database. For evidence of PVS1, whether the gene's disease mechanism is predominantly loss of function (LOF) was determined by literature review. Allele frequency thresholds for BA1, and BS1 evidence were determined by a disease-based literature review. The allele frequency threshold value used in PM2 evidence was taken as 0.0001 [14].
Sibling 1: A 30-year-old female patient, the first child of the family, has a neuromotor developmental delay. The patient has vision loss in the left eye, and in her medical history, she was born with a normal spontaneous birth weighing 3500 grams. She could not hold her head in the first 3 months. She started to sit up at about 1 year old and walked when she was around 3. Significant hydrocephalic dilatation was observed in the 3rd and 4th ventricles and frontal horns of her non-contrast cranial CT image (Figure 1). She did not speak or express herself, however, her hearing was normal and she had no seizures.
Figure 1: Non-contrast cranial CT in sibling 1: The occipital horns of both lateral ventricles were observed to be wide corpus cephalic (A–C). Cystic porencephalic changes with irregular borders extending to the cortex in connection with the occipital horn of the left lateral ventricle were noteworthy. Additionally, significant hydrocephalic dilatation was observed in the 3rd and 4th ventricles and frontal horns. Cisterna magna was widely observed.
Sibling 2: A 27-year-old female patient, the second child of the family. In her medical history, neuromotor development stages were delayed. Her development was normal until the age of 1, but then there was a pause in her development. She walked at the age of 2.5, her speech started after the age of 6, and she is limited to one or two words, and cannot express herself. There was no history of seizures. In her neurological examination, muscle strength was 4/5 in the distal and proximal upper extremities, -4/5 in the lower extremity, deep tendon reflex (DTR) could not be obtained in the lower extremity, and her gait was ataxic. She could not fully express herself, had no speech, and had repetitive movements.
Sibling 3: A 19-year-old male patient, the last child of the family, who has a neuromotor developmental delay like his siblings, and has milder symptoms than his siblings. He started walking after the age of 3 and can express himself, albeit slightly. He has a history of febrile seizures at the age of 1 year, his EEG was found to be within normal limits, and he is being followed up by Pediatric Psychiatry due to his hyperactivity. On neurological examination, muscle strength was 4/5 in the upper extremity, no DTR was obtained, +4/5 in the lower extremity, DTR was hypoactive, slightly ataxic, and there was incompetence in cerebellar tests. Creatine kinase values were found to be high, and there was cerebellar atrophy in the patient's cranial MRI (Figure 2). Vision and hearing examinations were normal.
Figure 2: Brain MRI in a patient, Sibling 3, with chronic muscular dystrophy carrying a mutation in TMEM5. (A–C) Coronal and sagittal images showing cerebellar anomalies with yellow arrowheads.
In all three cases, the following RXYLT1 (TMEM5) variant was found to be homozygotic. The c.139del p.(Ala47Argfs*42) frameshift variant was detected as homozygous in the TMEM5 gene. Variant (nonsense, frameshift, splice site ±1, 2) may cause RNA degradation and affect protein formation or function (PVS1). The variant was not seen in public data banks (ExaC, ESP, 1000G) (PM2). The variant was classified as pathogenic/likely pathogenic by all groups in the ClinVar database without evidence (PP5). The TMEM5 gene is associated with AR inherited disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 in the OMIM database (Figure 3) (Figure 4) (Table 1)
Figure 3: Intergenomic variations of the TMEM5 mutated family. A is for three siblings. B is for their parents.
Figure 4: Pedigree of the TMEM5 mutation family.
| Gene transcript | Location | Annotation | Zygosity | Classification |
RXYLT1 NM_014254.2 |
hg19:Chr12:64173874 exon 1 c.139del p.(Ala47Argfs*42)
| Frameshift rs397514696
| Homozygous |
Pathogenic (PVS1, PM2, PP5)
|
Table 1: Genetic mutation information of all cases
We describe a family in which multiple members carried homozygous mutations in the TMEM5 gene, specifically an early frameshift mutation p. Ala47Argfs*42 (c.139delG) located in exon 1. This variant was transmitted within the family and resulted in variable phenotypic outcomes. The affected individuals included one male and two female siblings. The male patient exhibited clinical features resembling MEB, whereas his two sisters displayed a more severe phenotype, also consistent with MEB, suggesting potential sex-related or individual-specific variability in disease expression. Magnetic resonance imaging (MRI) in one of the affected females demonstrated dilated ventricles and cerebellar atrophy, confirming structural involvement of the central nervous system. These findings parallel previously published data in which the identical TMEM5 mutation was identified and associated with similar neurological abnormalities [15]. Other studies have linked TMEM5 mutations to cobblestone lissencephaly in neonates [3], and a male patient carrying the TMEM5 nonsense mutation p.Arg340* was reported to show clinical features consistent with WWS, leading to early death [15]. Interestingly, none of the three individuals in our study demonstrated cobblestone lissencephaly or WWS, highlighting phenotypic diversity even among patients with pathogenic variants in TMEM5.
Our observations further emphasize that the clinical presentation of TMEM5-related dystroglycanopathies can vary widely. The phenotype may range from milder forms—characterized primarily by congenital muscular dystrophy and persistently elevated creatine kinase (CK) levels without significant brain malformations—to more severe forms with pronounced brain structural abnormalities and ocular defects. This variability is consistent with previous reports documenting heterogeneity in TMEM5-associated disorders [16]. Collectively, our results suggest the presence of genotype–phenotype correlations in TMEM5-related dystroglycanopathies, where frameshift mutations may drive either severe neurological symptoms or attenuated clinical characteristics depending on modifying factors. A recent study broadened the mutational spectrum of TMEM5 by identifying five distinct variants in five unrelated families: two missense mutations, c.1016A>G (p.Tyr339Cys) and c.1019_1020delinsTT (p.Arg340Leu), and three frameshift mutations, c.795delG (p.Glu265fs8), c.1064_1091del (p.Asp355Valfs33), and c.279delA (p.Gly94Glufs*33) [3]. Among these cases, one family presented with relatively mild cerebral dysplasia accompanied by severe retinal dysplasia, while the other four demonstrated severe cerebral involvement along with moderate retinal malformations. These findings underscore both the clinical overlap and the phenotypic variability of TMEM5-associated disorders.
When compared with that cohort, the three individuals in our study exhibited distinct mutant variations and clinical courses, which further illustrates the complexity of this condition. However, due to the limited number of reported cases worldwide, definitive conclusions regarding genotype–phenotype relationships remain elusive. The rarity of TMEM5 mutations makes it challenging to distinguish whether observed variability arises solely from the underlying mutation or whether other genetic and epigenetic modifiers are involved. Importantly, our findings highlight the value of next-generation sequencing (NGS) technologies in clinical diagnostics. Without targeted sequencing, the identification of this early frameshift mutation in exon 1 of TMEM5 would have been difficult, particularly given the nonspecific presentation of congenital muscular dystrophy and overlapping features with other dystroglycanopathies. NGS enabled precise molecular diagnosis, thereby contributing to improved disease classification and counseling for affected families. The clinical distinctions between our patients and previously described TMEM5 cases suggest that the pathogenic variant alone does not fully determine the phenotypic outcome. It is plausible that additional modifiers within the α-dystroglycan (α-DG) glycosylation pathway or other molecular networks influence disease severity and organ involvement. Such modifiers could account for why some individuals present only with muscular dystrophy and elevated CK, while others develop severe central nervous system or ocular malformations.
This family provides further evidence of the broad phenotypic spectrum associated with TMEM5 mutations, ranging from mild muscular presentations to severe structural brain abnormalities. The identification of the c.139delG (p.Ala47Argfs*42) mutation expands the catalog of pathogenic variants and reinforces the necessity of comprehensive genetic testing in suspected dystroglycanopathies. Larger cohorts and functional studies are essential to clarify genotype–phenotype relationships and to identify potential genetic modifiers that may explain variability in clinical outcomes.
This study was approved by the Ethical Committee of Umraniye Training and Research Hospital (Ethics No: B.10.1.TKH.4.34.H.GP.0.01/12, 26/01/2023), School of Medicine, University of Health Sciences, Istanbul, Turkey.
GH contributed to the concept of the study, acquired, analyzed, and interpreted the data, and took the lead in writing the manuscript. ME, MHY, and BK contributed to the concept of the study, collection of the data, and the interpretation of the results.
Metin Eser (ME), Gulam Hekimoglu (GH), Murat Hakki Yarar (MHY), and Busra Kutlubay (BK) have no conflicts of interest that are directly or indirectly related to the content of this article.
The authors disclosed that they did not receive any grant during the conduct or writing of this study.
ClinGen RASopathy Expert Panel (ClINGEN-RAS), ncbi.nlm.nih.gov/clinvar/submitters/ 506439/
ClinGen Inherited Cardiomyopathy Expert Panel (CMP-EP), ncbi.nlm.nih.gov/clinvar/submitters/506161/
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), ncbi.nlm.nih.gov/clinvar/submitters/505954/
Ensembl VEP pick options. https://www.ensembl.org/info/docs/tools/vep/script/vep_other.html#pick_options
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), ncbi.nlm.nih.gov/clinvar/submitters/504863/
Pharmacogenomics Knowledge Base, Stanford University (PharmGKB), ncbi.nlm.nih.gov/clinvar/submitters/500295/
The Clinical and Functional Translation of CFTR (CFTR2), ncbi.nlm.nih.gov/clinvar/submitters/500092/
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I would like to offer my testimony in the support. I have received through the peer review process and support the editorial office where they are to support young authors like me, encourage them to publish their work in your esteemed journals, and globalize and share knowledge globally. I really appreciate your journal, peer review, and editorial office.
Dear Agrippa Hilda- Editorial Coordinator of Journal of Neuroscience and Neurological Surgery, "The peer review process was very quick and of high quality, which can also be seen in the articles in the journal. The collaboration with the editorial office was very good."
I would like to express my sincere gratitude for the support and efficiency provided by the editorial office throughout the publication process of my article, “Delayed Vulvar Metastases from Rectal Carcinoma: A Case Report.” I greatly appreciate the assistance and guidance I received from your team, which made the entire process smooth and efficient. The peer review process was thorough and constructive, contributing to the overall quality of the final article. I am very grateful for the high level of professionalism and commitment shown by the editorial staff, and I look forward to maintaining a long-term collaboration with the International Journal of Clinical Case Reports and Reviews.
To Dear Erin Aust, I would like to express my heartfelt appreciation for the opportunity to have my work published in this esteemed journal. The entire publication process was smooth and well-organized, and I am extremely satisfied with the final result. The Editorial Team demonstrated the utmost professionalism, providing prompt and insightful feedback throughout the review process. Their clear communication and constructive suggestions were invaluable in enhancing my manuscript, and their meticulous attention to detail and dedication to quality are truly commendable. Additionally, the support from the Editorial Office was exceptional. From the initial submission to the final publication, I was guided through every step of the process with great care and professionalism. The team's responsiveness and assistance made the entire experience both easy and stress-free. I am also deeply impressed by the quality and reputation of the journal. It is an honor to have my research featured in such a respected publication, and I am confident that it will make a meaningful contribution to the field.
"I am grateful for the opportunity of contributing to [International Journal of Clinical Case Reports and Reviews] and for the rigorous review process that enhances the quality of research published in your esteemed journal. I sincerely appreciate the time and effort of your team who have dedicatedly helped me in improvising changes and modifying my manuscript. The insightful comments and constructive feedback provided have been invaluable in refining and strengthening my work".
I thank the ‘Journal of Clinical Research and Reports’ for accepting this article for publication. This is a rigorously peer reviewed journal which is on all major global scientific data bases. I note the review process was prompt, thorough and professionally critical. It gave us an insight into a number of important scientific/statistical issues. The review prompted us to review the relevant literature again and look at the limitations of the study. The peer reviewers were open, clear in the instructions and the editorial team was very prompt in their communication. This journal certainly publishes quality research articles. I would recommend the journal for any future publications.
Dear Jessica Magne, with gratitude for the joint work. Fast process of receiving and processing the submitted scientific materials in “Clinical Cardiology and Cardiovascular Interventions”. High level of competence of the editors with clear and correct recommendations and ideas for enriching the article.
We found the peer review process quick and positive in its input. The support from the editorial officer has been very agile, always with the intention of improving the article and taking into account our subsequent corrections.
My article, titled 'No Way Out of the Smartphone Epidemic Without Considering the Insights of Brain Research,' has been republished in the International Journal of Clinical Case Reports and Reviews. The review process was seamless and professional, with the editors being both friendly and supportive. I am deeply grateful for their efforts.
To Dear Erin Aust – Editorial Coordinator of Journal of General Medicine and Clinical Practice! I declare that I am absolutely satisfied with your work carried out with great competence in following the manuscript during the various stages from its receipt, during the revision process to the final acceptance for publication. Thank Prof. Elvira Farina
Dear Jessica, and the super professional team of the ‘Clinical Cardiology and Cardiovascular Interventions’ I am sincerely grateful to the coordinated work of the journal team for the no problem with the submission of my manuscript: “Cardiometabolic Disorders in A Pregnant Woman with Severe Preeclampsia on the Background of Morbid Obesity (Case Report).” The review process by 5 experts was fast, and the comments were professional, which made it more specific and academic, and the process of publication and presentation of the article was excellent. I recommend that my colleagues publish articles in this journal, and I am interested in further scientific cooperation. Sincerely and best wishes, Dr. Oleg Golyanovskiy.
Dear Ashley Rosa, Editorial Coordinator of the journal - Psychology and Mental Health Care. " The process of obtaining publication of my article in the Psychology and Mental Health Journal was positive in all areas. The peer review process resulted in a number of valuable comments, the editorial process was collaborative and timely, and the quality of this journal has been quickly noticed, resulting in alternative journals contacting me to publish with them." Warm regards, Susan Anne Smith, PhD. Australian Breastfeeding Association.
Dear Jessica Magne, Editorial Coordinator, Clinical Cardiology and Cardiovascular Interventions, Auctores Publishing LLC. I appreciate the journal (JCCI) editorial office support, the entire team leads were always ready to help, not only on technical front but also on thorough process. Also, I should thank dear reviewers’ attention to detail and creative approach to teach me and bring new insights by their comments. Surely, more discussions and introduction of other hemodynamic devices would provide better prevention and management of shock states. Your efforts and dedication in presenting educational materials in this journal are commendable. Best wishes from, Farahnaz Fallahian.
Dear Maria Emerson, Editorial Coordinator, International Journal of Clinical Case Reports and Reviews, Auctores Publishing LLC. I am delighted to have published our manuscript, "Acute Colonic Pseudo-Obstruction (ACPO): A rare but serious complication following caesarean section." I want to thank the editorial team, especially Maria Emerson, for their prompt review of the manuscript, quick responses to queries, and overall support. Yours sincerely Dr. Victor Olagundoye.
Dear Ashley Rosa, Editorial Coordinator, International Journal of Clinical Case Reports and Reviews. Many thanks for publishing this manuscript after I lost confidence the editors were most helpful, more than other journals Best wishes from, Susan Anne Smith, PhD. Australian Breastfeeding Association.
Dear Agrippa Hilda, Editorial Coordinator, Journal of Neuroscience and Neurological Surgery. The entire process including article submission, review, revision, and publication was extremely easy. The journal editor was prompt and helpful, and the reviewers contributed to the quality of the paper. Thank you so much! Eric Nussbaum, MD
Dr Hala Al Shaikh This is to acknowledge that the peer review process for the article ’ A Novel Gnrh1 Gene Mutation in Four Omani Male Siblings, Presentation and Management ’ sent to the International Journal of Clinical Case Reports and Reviews was quick and smooth. The editorial office was prompt with easy communication.
Dear Erin Aust, Editorial Coordinator, Journal of General Medicine and Clinical Practice. We are pleased to share our experience with the “Journal of General Medicine and Clinical Practice”, following the successful publication of our article. The peer review process was thorough and constructive, helping to improve the clarity and quality of the manuscript. We are especially thankful to Ms. Erin Aust, the Editorial Coordinator, for her prompt communication and continuous support throughout the process. Her professionalism ensured a smooth and efficient publication experience. The journal upholds high editorial standards, and we highly recommend it to fellow researchers seeking a credible platform for their work. Best wishes By, Dr. Rakhi Mishra.
Dear Jessica Magne, Editorial Coordinator, Clinical Cardiology and Cardiovascular Interventions, Auctores Publishing LLC. The peer review process of the journal of Clinical Cardiology and Cardiovascular Interventions was excellent and fast, as was the support of the editorial office and the quality of the journal. Kind regards Walter F. Riesen Prof. Dr. Dr. h.c. Walter F. Riesen.
Dear Ashley Rosa, Editorial Coordinator, International Journal of Clinical Case Reports and Reviews, Auctores Publishing LLC. Thank you for publishing our article, Exploring Clozapine's Efficacy in Managing Aggression: A Multiple Single-Case Study in Forensic Psychiatry in the international journal of clinical case reports and reviews. We found the peer review process very professional and efficient. The comments were constructive, and the whole process was efficient. On behalf of the co-authors, I would like to thank you for publishing this article. With regards, Dr. Jelle R. Lettinga.
Dear Clarissa Eric, Editorial Coordinator, Journal of Clinical Case Reports and Studies, I would like to express my deep admiration for the exceptional professionalism demonstrated by your journal. I am thoroughly impressed by the speed of the editorial process, the substantive and insightful reviews, and the meticulous preparation of the manuscript for publication. Additionally, I greatly appreciate the courteous and immediate responses from your editorial office to all my inquiries. Best Regards, Dariusz Ziora
Dear Chrystine Mejia, Editorial Coordinator, Journal of Neurodegeneration and Neurorehabilitation, Auctores Publishing LLC, We would like to thank the editorial team for the smooth and high-quality communication leading up to the publication of our article in the Journal of Neurodegeneration and Neurorehabilitation. The reviewers have extensive knowledge in the field, and their relevant questions helped to add value to our publication. Kind regards, Dr. Ravi Shrivastava.
Dear Clarissa Eric, Editorial Coordinator, Journal of Clinical Case Reports and Studies, Auctores Publishing LLC, USA Office: +1-(302)-520-2644. I would like to express my sincere appreciation for the efficient and professional handling of my case report by the ‘Journal of Clinical Case Reports and Studies’. The peer review process was not only fast but also highly constructive—the reviewers’ comments were clear, relevant, and greatly helped me improve the quality and clarity of my manuscript. I also received excellent support from the editorial office throughout the process. Communication was smooth and timely, and I felt well guided at every stage, from submission to publication. The overall quality and rigor of the journal are truly commendable. I am pleased to have published my work with Journal of Clinical Case Reports and Studies, and I look forward to future opportunities for collaboration. Sincerely, Aline Tollet, UCLouvain.
Dear Ms. Mayra Duenas, Editorial Coordinator, International Journal of Clinical Case Reports and Reviews. “The International Journal of Clinical Case Reports and Reviews represented the “ideal house” to share with the research community a first experience with the use of the Simeox device for speech rehabilitation. High scientific reputation and attractive website communication were first determinants for the selection of this Journal, and the following submission process exceeded expectations: fast but highly professional peer review, great support by the editorial office, elegant graphic layout. Exactly what a dynamic research team - also composed by allied professionals - needs!" From, Chiara Beccaluva, PT - Italy.
Dear Maria Emerson, Editorial Coordinator, we have deeply appreciated the professionalism demonstrated by the International Journal of Clinical Case Reports and Reviews. The reviewers have extensive knowledge of our field and have been very efficient and fast in supporting the process. I am really looking forward to further collaboration. Thanks. Best regards, Dr. Claudio Ligresti
Dear Chrystine Mejia, Editorial Coordinator, Journal of Neurodegeneration and Neurorehabilitation. “The peer review process was efficient and constructive, and the editorial office provided excellent communication and support throughout. The journal ensures scientific rigor and high editorial standards, while also offering a smooth and timely publication process. We sincerely appreciate the work of the editorial team in facilitating the dissemination of innovative approaches such as the Bonori Method.” Best regards, Dr. Matteo Bonori.
I recommend without hesitation submitting relevant papers on medical decision making to the International Journal of Clinical Case Reports and Reviews. I am very grateful to the editorial staff. Maria Emerson was a pleasure to communicate with. The time from submission to publication was an extremely short 3 weeks. The editorial staff submitted the paper to three reviewers. Two of the reviewers commented positively on the value of publishing the paper. The editorial staff quickly recognized the third reviewer’s comments as an unjust attempt to reject the paper. I revised the paper as recommended by the first two reviewers.
Dear Maria Emerson, Editorial Coordinator, Journal of Clinical Research and Reports. Thank you for publishing our case report: "Clinical Case of Effective Fetal Stem Cells Treatment in a Patient with Autism Spectrum Disorder" within the "Journal of Clinical Research and Reports" being submitted by the team of EmCell doctors from Kyiv, Ukraine. We much appreciate a professional and transparent peer-review process from Auctores. All research Doctors are so grateful to your Editorial Office and Auctores Publishing support! I amiably wish our article publication maintained a top quality of your International Scientific Journal. My best wishes for a prosperity of the Journal of Clinical Research and Reports. Hope our scientific relationship and cooperation will remain long lasting. Thank you very much indeed. Kind regards, Dr. Andriy Sinelnyk Cell Therapy Center EmCell
