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Edition of 06 October 2025

New Syndromes

BSN variants cause a synaptic disorder with a broad phenotypic range across the age spectrum

A new study published in American Journal of Human Genetics showed de novo variants in BSN, which encodes the key presynaptic scaffolding protein Bassoon implicated in synaptic vesicle positioning and release. The variants were described within a cohort of 29 individuals suffering from common clinical characteristics, with age-specific signature, including epilepsy; febrile, generalized tonic-clonic, or focal-onset seizures; developmental delay; obesity; and delayed speech.

Am J Hum Genet. 2025 Jun 5;112(6):1415-1429

CELF4 variants cause a neurodevelopmental disorder and obesity

A new study published in American Journal of Human Genetics described heterozygous missense or loss-of-function variants in CELF4, which encodes a RNA-binding protein playing a key role in post-transcriptional events and is fundamental to the developmental process. The variants were found among 15 individuals from 14 unrelated families, presenting a neurodevelopmental disorder including childhood-onset global developmental delay/intellectual disability, seizures and overweight/obesity. Various analyses highlighted the essential role of CELF4 in development and its involvement as a novel etiology of neurodevelopmental disorders with obesity.

Eur J Hum Genet. 2025 Jul;33(7):852-859

GPKOW variants cause a multisystemic X-linked disorder

A new study published in Genetics in Medicine characterized hemizygous frameshift variants in GPKOW, which encodes a nuclear RNA-binding protein important in messenger RNA splicing as a spliceosome subunit. The variants were found among 3 males from 2 unrelated families with intrauterine growth restriction, severe brain and eye developemental phenotypes, and skeletal abnormalities. Various analyses confirmed the role of GPKOW as a crucial player in the development of the eye and brain.

Genet Med. 2025 Jul;27(7):101429

LSM1 variants cause a novel autosomal recessive syndromic neurodevelopmental disorder

A new study published in Journal of Medical Genetics described homozygous variants in LSM1, which encodes a highly conserved protein belonging to a complex involved in messenger RNA storage, processing, regulation and degradation. The variants were found among 6 pediatric patients from 4 unrelated families who suffer from dysmorphic facial features, developmental delay and multisystemic involvement including urological, cardiac and skeletal manifestations. Various analyses showed that LSM1 deficiency constitutes a disease-causing gene responsible for severe developmental disorder with multisystemic involvement.

New Genes

Distal myopathy: Identification of heterozygous variants in SPTAN1

To read more about “Distal myopathy”

Genet Med. 2025 Jun;27(6):101399

Familial advanced sleep-phase syndrome: Identification of variants in CACNA1D

To read more about “Familial advanced sleep-phase syndrome”

Proc Natl Acad Sci U S A. 2025 Jun 10;122(23):e2424387122

Inherited retinal disorder: Identification of biallelic variants in C19ORF44

To read more about “Inherited retinal disorder”

Genet Med. 2025 Jun;27(6):101401

Leigh syndrome : Identification of biallelic variants in FASTKD5

To read more about “Leigh syndrome”

Am J Hum Genet. 2025 Jul 3;112(7):1699-1710

Retinitis pigmentosa: Identification of variants in IDH3G

To read more about “Retinitis pigmentosa”

Genet Med. 2025 Jun;27(6):101418

Clinical Research

Prmiary lateral sclerosis: Validation of the diagnostic accuracy of the 2020 consensus criteria based on long term follow-up data (natural history)

To read more about “Prmiary lateral sclerosis”

Neurology. 2025 Jun 10;104(11):e213461

Spinal muscular atrophies: Effects of gene-based therapy on patient survival, the need for ventilatory support, motor function improvement, and the incidence of adverse drug reactions (systematic reveiw and meta-analysis)

To read more about “Proximal spinal muscular atrophy type 1”
To read more about “Proximal spinal muscular atrophy type 2”

Gene Ther. 2025 Jul;32(4):301-330

X-linked hypophosphatemia: Impact of medical therapy on patient-important outcomes to guide evidence-based treatment recommendations (systematic review and meta-analysis)

To read more about “X-linked hypophosphatemia”

J Clin Endocrinol Metab. 2025 May 19;110(6):1767-1780

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*****

Natural history

Cerebral arteriovenous malformation Sudden Prehospital Deaths From Brain Arteriovenous Malformations: A Population-Based Study

Neurology. 2025 Jul 22;105(2):e213818

Orphanet J Rare Dis . 2025 Jul 27;20(1):379

*****

Registry

Antiphospholipid syndrome Predictors of Mortality in Antiphospholipid Antibody-Positive Patients: Prospective Results From Antiphospholipid Syndrome Alliance for Clinical Trials and International Networking Clinical Database and Repository

Arthritis Care Res (Hoboken). 2025 Jun;77(6):760-766

Cornelia de Lange syndrome Clinical Severity Score as a Prognostic Indicator of Communicative Functioning in Cornelia de Lange Syndrome

Am J Med Genet A. 2025 Jul;197(7):e64040

Diffuse large B-cell lymphoma Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System-Outcomes in Finland: A Nationwide Population-Based Study

EJHaem. 2025 May 28;6(3):e70021

Wilson disease Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry

Orphanet J Rare Dis . 2025 Jun 7;20(1):288

*****

Meta-analysis

Diamond-Blackfan anemia Hematopoietic Stem Cell Transplantation Outcomes in Diamond-Blackfan Anemia Patients Based on Myeloablative Conditioning Regimen With or Without Total Body Irradiation: A Systematic Review and Meta-Analysis

EJHaem. 2025 May 8;6(3):e70043

Ehlers-Danlos syndrome Prevalence of vascular complications in Ehlers-Danlos syndrome: a systematic review and meta-analysis

Orphanet J Rare Dis. 2025 Jun 20;20(1):312

Wilson disease Comparative analysis of clinical outcomes and safety profile of trientine and d-penicillamine in the management of Wilson’s disease: A systematic review and meta-analysis

Rare.2025 Mar 17;3:100077

*****

Large observational study

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation Living without pain: A 10-year study of congenital insensitivity to pain with anhidrosis

Pediatr Res. 2025 Jun;97(7):2443-2448

Juvenile myasthenia gravis Treatment Patterns and Disease Burden of Juvenile Myasthenia Gravis in the United States: A Cohort Study Using Health Care Claims Databases

Neurology. 2025 Jul 8;105(1):e213736

*****

Clinical trial

Acromegaly Octreotide Subcutaneous Depot for Acromegaly: A Randomized, Double-blind, Placebo-controlled Phase 3 Trial, ACROINNOVA 1

J Clin Endocrinol Metab. 2025 May 19;110(6):1729-1739

Cerebrotendinous xanthomatosis Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 study

Genet Med. 2025 Jul;27(7):101449

Congenital adrenal hyperplasia Adult Height Following Prepubertal Treatment With Antiandrogen, Aromatase Inhibitor, and Reduced Hydrocortisone in CAH

J Clin Endocrinol Metab. 2025 Jun 17;110(7):e2171-e2182

Duchenne muscular dystrophy Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy: An Exploratory Analysis From the EMBARK Randomized Clinical Trial

JAMA Neurol. 2025 Jul 1;82(7):734-744

Graft versus host disease Graft-versus-Host Disease Prophylaxis with Cyclophosphamide and Cyclosporin

N Engl J Med. 2025 Jul 17;393(3):243-254

Hemophilia Safety and efficacy of a fitusiran antithrombin-based dose regimen in people with hemophilia A or B: the ATLAS-OLE study

Blood. 2025 Jun 19;145(25):2966-2977

Idiopathic hypersomnia Efficacy and Safety of Sodium Oxybate in Adults With Idiopathic Hypersomnia: A Randomized Controlled Trial

Neurology. 2025 Jun 10;104(11):e213690

Idiopathic inflammatory myopathy Efficacy and Safety of Subcutaneous Abatacept Plus Standard Treatment for Active Idiopathic Inflammatory Myopathy: Phase 3 Randomized Controlled Trial

Arthritis Rheumatol. 2025 Jun;77(6):765-776

Idiopathic pulmonary fibrosis Nerandomilast in Patients with Idiopathic Pulmonary Fibrosis

N Engl J Med. 2025 Jun 12;392(22):2193-2202

Immune thrombocytopenia Safety and efﬁcacy of rilzabrutinib vs placebo in adults with immune thrombocytopenia: the phase 3 LUNA3 study

Blood. 2025 Jun 12;145(24):2914-2926.

Interstitial lung disease Nerandomilast in Patients with Progressive Pulmonary Fibrosis

N Engl J Med . 2025 Jun 12;392(22):2203-2214

Multiple myeloma Isatuximab, carfilzomib, lenalidomide, and dexamethasone induction in newly diagnosed myeloma: analysis of the MIDAS trial

Blood. 2025 Jul 3;146(1):52-61

Multiple myeloma Measurable Residual Disease-Guided Therapy in Newly Diagnosed Myeloma

N Engl J Med. 2025 Jul 31;393(5):425-437

Myasthenia gravis A Phase 3 Trial of Inebilizumab in Generalized Myasthenia Gravis

N Engl J Med. 2025 Jun 19;392(23):2309-2320

Neurofibromatosis type 1 Efficacy and safety of selumetinib in adults with neurofibromatosis type 1 and symptomatic, inoperable plexiform neurofibromas (KOMET): a multicentre, international, randomised, placebo-controlled, parallel, double-blind, phase 3 study

Lancet. 2025 Jun 21;405(10496):2217-2230

Paroxysmal nocturnal hemoglobinuria Effectiveness of Iptacopan Versus C5 Inhibitors in Complement Inhibitor-Naive Patients With Paroxysmal Nocturnal Haemoglobinuria

EJHaem. 2025 May 20;6(3):e270055

Sarcoidosis First-Line Treatment of Pulmonary Sarcoidosis with Prednisone or Methotrexate

N Engl J Med. 2025 Jul 17;393(3):231-242

Small cell lung cancer Tarlatamab in Small-Cell Lung Cancer after Platinum-Based Chemotherapy

N Engl J Med. 2025 Jul 24;393(4):349-361

*****

Real world evidence

Nieman-Pick disease type C Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C

Neurology. 2025 Jul;105(1):e213589

Non-acquired isolated growth hormone deficiency First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry

Orphanet J Rare Dis. 2025 Jul 23;20(1):372

Primary biliary cholangitis Hepatic real-world outcomes with obeticholic acid in primary biliary cholangitis (HEROES): A trial emulation study design

Hepatology. 2025 Jun 1;81(6):1647-1659. doi: 10.1097/HEP.0000000000001174

Proximal spinal muscular atrophy Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy

Orphanet J Rare Dis. 2025 Jul 31;20(1):391

Smith-Lemli-Opitz syndrome Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes

Orphanet J Rare Dis. 2025 Jul 28;20(1):381

Therapeutic Approaches

Cystic fibrosis: Sustained postnatal CFTR activity by systemic in utero gene editing in both respiratory and gastrointestinal tissues of mouse model

To read more about “Cystic fibrosis”

Proc Natl Acad Sci U S A. 2025 Jun 17;122(24):e2418731122

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Acquired hemophilia A RNAi targeting heparin cofactor II promotes hemostasis in a canine model of acquired hemophilia A

Gene Ther. 2025 Jul;32(4):398-409

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Microglia replacement halts the progression of microgliopathy in mice and humans

Science. 2025 Jul 10;389(6756):eadr1015

Angelman syndrome A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition

Proc Natl Acad Sci U S A. 2025 Jul 29;122(30):e2505152122

Bardet-Biedl syndrome Transcriptome-guided GLP-1 receptor therapy rescues metabolic and behavioral disruptions in a Bardet-Biedl syndrome mouse model

J Clin Invest. 2025 Apr 15;135(12):e184636

Combined immunodeficiency due to LRBA deficiency A precision medicine approach to primary immunodeficiency disease: Ataluren strikes nonsense mutations once again

Mol Ther. 2025 Jul 2;33(7):3231-3241

Diamond-Blackfan anemia Preclinical development of lentiviral vector gene therapy for Diamond-Blackfan anemia syndrome

Mol Ther. 2025 Jul 2;33(7):3086-3100

Duchenne muscular dystrophy ADAMTS-5 inhibition reduces muscle inflammation and fibrosis and improves function in mouse models of Duchenne muscular dystrophy

Sci Transl Med. 2025 Jun 18;17(803):eado2112

Gaucher disease Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion

Hum Mol Genet. 2025 May 17;34(11):952-966

GM1 gangliosidosis Adeno-associated virus expressing a blood-brain barrier-penetrating enzyme improves GM1 gangliosidosis in a preclinical model

J Clin Invest. 2025 Apr 8;135(12):e180724

Metaphyseal chondrodysplasia, Jansen type A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics

Proc Natl Acad Sci U S A. 2025 Jun 10;122(23):e2500176122

Mitochondrial disease Small molecules restore mutant mitochondrial DNA polymerase activity

Nature. 2025 Jun;642(8067):501-507

NMDA receptor encephalitis Neuro-immunobiology and treatment assessment in a mouse model of anti-NMDAR encephalitis

Brain. 2025 Jun 3;148(6):2023-2037

Retinitis pigmentosa Correcting a patient-specific Rhodopsin mutation with adenine base editor in a mouse model

Mol Ther. 2025 Jul 2;33(7):3101-3113

Severe congenital neutropenia Flavopiridol restores granulopoiesis in experimental models of severe congenital neutropenia

Mol Ther. 2025 Jun 4;33(6):2851-2871

Severe intellectual disability and progressive spastic paraplegia ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities

Hum Mol Genet. 2025 Jun 4;34(12):1034-1039

Sickle cell anemia Novel, potent, and orally bioavailable LSD1 inhibitors induce fetal hemoglobin synthesis in a sickle cell disease mouse model

Blood . 2025 Jul 17;146(3):356-368

Sickle cell S-C disease A novel mouse model of hemoglobin SC disease reveals mechanisms underlying beneficial effects of hydroxyurea

Blood. 2025 Jul 3;146(1):13-28

Stargardt disease Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1

Hum Mol Genet. 2025 Jun 4;34(12):1040-1056

Synovial sarcoma DNA demethylating agents suppress preclinical models of synovial sarcoma

J Clin Invest. 2025 Apr 29;135(13):e190855

Uveal melanoma Tebentafusp elicits on-target cutaneous immune responses driven by cytotoxic T cells in uveal melanoma patients

J Clin Invest . 2025 Apr 29;135(12):e181464

Biomarkers

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Acute myeloid leukemia Blood-based proteomic profiling identifies OSMR as a novel biomarker of AML outcomes

Blood. 2025 Jun 19;145(25):3015-3029

Moyamoya disease Noninvasive Assessment of the Risk Features of Hemorrhage in Moyamoya Disease Using 7T MRI

Neurology. 2025 Jun 10;104(11):e213617

Progressive supranuclear palsy Post-mortem validation of in vivo TSPO PET as a microglial biomarker

Brain. 2025 Jun 3;148(6):1904-1910

Small cell lung cancer Cancer-Related Cognitive Impairment in Patients With Lung Cancer

Neurology. 2025 Jun 24;104(12):e213651

Diagnostic Approaches

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Mitochondrial disease Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience

Am J Hum Genet. 2025 Jun 5;112(6):1376-1387

A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases

Genet Med. 2025 Jun;27(6):101398

Patient Management and Therapy

Hemophilia: Comprehensive summary of the current status of three primary gene therapy approaches at the forefront of clinical development

To read more about “Hemophilia”

Mol Ther. 2025 Jun 4;33(6):2350-2362

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Epidermolysis bullosa simplex without extracutaneous involvement Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials - a narrative review and systematic update

Orphanet J Rare Dis. 2025 Jun 20;20(1):313

Giant cell arteritis Management of Relapses in Giant Cell Arteritis

Arthritis Rheumatol. 2025 Jun;77(6):632-645

Glioblastoma CAR T cell therapy for glioblastoma: A review of the first decade of clinical trials

Mol Ther. 2025 Jun 4;33(6):2454-2461

Hereditary stomatocytosis The evolving landscape of hereditary stomatocytosis

Blood. 2025 Jun 26;145(26):3089-3100

Hypoplasminogenemia How I treat type 1 plasminogen deficiency

Blood. 2025 Jun 19;145(25):2954-2965

Juvenile dermatomyositis Recent Advances in Juvenile Dermatomyositis: Moving toward Integration of Myositis-Specific Antibody Clinical Phenotypes, IFN-Driven Pathogenesis, and Targeted Therapies

J Invest Dermatol. 2025 Jun;145(6):1294-1304

Lysosomal disease How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases?

Orphanet J Rare Dis. 2025 Jun 6;20(1):287

Phenylketonuria Current state of the treatment landscape of phenylketonuria

Orphanet J Rare Dis. 2025 Jun 5;20(1):281

Recommendations

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Central nervous system malformation Fetal malformations of cortical development: review and clinical guidance

Brain. 2025 Jun 3;148(6):1888-1903

Duchenne muscular dystrophy Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus: Report of the AAN Guidelines Subcommittee

Neurology. 2025 Jun 10;104(11):e213604

Familial Mediterranean fever EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update

Ann Rheum Dis. 2025 Jun;84(6):899-909

Familial Mediterranean fever Safety of colchicine on fertility, pregnancy, and lactation: a systematic review and meta-analysis informing the EULAR/PReS recommendations for familial Mediterranean fever

Ann Rheum Dis. 2025 Jun;84(6):1045-1051

Schinzel-Giedion syndrome International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study

Am J Med Genet A. 2025 Jun;197(6):e64015

Epidemiology

Myasthenia gravis: Short-term and long-term mortality for patients in Denmark from 1985 to 2020

To read more about “Myasthenia gravis”

Neurology. 2025 Jun 24;104(12):e213745

Other publications

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Hereditary spastic paraplegia The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland

Orphanet J Rare Dis. 2025 Jul 1;20(1):326

Vasculitis Prevalence and Clinical Characteristics of Vasculitis in the Alaska Native and American Indian Peoples of Alaska

Arthritis Care Res (Hoboken). 2025 Jul;77(7):873-880

Functional Impact

Autoimmune encephalitis: Scope of the current types of quality of life and clinical outcome measures to encompass disease burden

To read more about “Autoimmune encephalitis”

Orphanet J Rare Dis. 2025 Jun 13;20(1):305

Proximal spinal muscular atrophy: Assessment of the psychometric properties of a set of new patient-reported outcome measures

To read more about “Proximal spinal muscular atrophy”

Orphanet J Rare Dis. 2025 Jun 4;20(1):274

Tuberous sclerosis complex: Validation of the self‑report quantified Tuberous Sclerosis Complex‑Associated Neuropsychiatric Disorders Checklist (TAND‑SQ)

To read more about “Tuberous sclerosis complex”

Orphanet J Rare Dis. 2025 Jun 13;20(1):304

Other publications

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Angelman syndrome Using the Bayley-4 and Vineland-3 in Angelman syndrome: barriers, solutions, and challenging items

Orphanet J Rare Dis. 2025 Jun 3;20(1):273

Hemophilia A The association of factor VIII activity levels with bleeding and quality of life in haemophilia a: findings from the European CHESS II study

Orphanet J Rare Dis. 2025 Jun 3;20(1):272

Inherited epidermolysis bullosa The health-related quality of life of Brazilians with epidermolysis bullosa

Orphanet J Rare Dis. 2025 Jul 4;20(1):341

Phenylketonuria Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6-18 years

Orphanet J Rare Dis. 2025 Jun 11;20(1):297

Phenylketonuria Psychological aspects, challenges to treatment and resources to support patients and caregivers of PKU patients: A scoping review

Rare.2025 Jun 14;3:100100

Primary biliary cholangitis Psychometric validation of the Worst Itch Numerical Rating Scale (WI-NRS) and other patient-reported outcome measures for assessing severity and impact of pruritus in patients with primary biliary cholangitis

Orphanet J Rare Dis. 2025 Jul 31;20(1):390

Proximal spinal muscular atrophy Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts

Neurology. 2025 Jul 22;105(2):e213839

Neurofibromatosis type 1 The association of body image with quality of life, psychological assistance and social support in neurofibromatosis type 1 patients: a cross-sectional study

Orphanet J Rare Dis. 2025 Jun 6;20(1):284

Systemic lupus erythematosus Lived Employment Experiences of Young Adults With Childhood- and Adult-Onset Systemic Lupus Erythematosus: A Multicenter Canadian Qualitative Study

Arthritis Care Res (Hoboken). 2025 Jun;77(6):710-719

Systemic lupus erythematosus Measuring Frailty in Systemic Lupus Erythematosus

Arthritis Care Res (Hoboken). 2025 Jun;77(6):700-709

Summary of the edition of 06 October 2025

Editorial
Political news
Scientific news
And also...

Edition of 06 October 2025

New Syndromes

BSN variants cause a synaptic disorder with a broad phenotypic range across the age spectrum

CELF4 variants cause a neurodevelopmental disorder and obesity

GPKOW variants cause a multisystemic X-linked disorder

LSM1 variants cause a novel autosomal recessive syndromic neurodevelopmental disorder

New Genes

Distal myopathy: Identification of heterozygous variants in SPTAN1

Familial advanced sleep-phase syndrome: Identification of variants in CACNA1D

Inherited retinal disorder: Identification of biallelic variants in C19ORF44

Leigh syndrome : Identification of biallelic variants in FASTKD5

Retinitis pigmentosa: Identification of variants in IDH3G

Clinical Research

Prmiary lateral sclerosis: Validation of the diagnostic accuracy of the 2020 consensus criteria based on long term follow-up data (natural history)

Spinal muscular atrophies: Effects of gene-based therapy on patient survival, the need for ventilatory support, motor function improvement, and the incidence of adverse drug reactions (systematic reveiw and meta-analysis)

X-linked hypophosphatemia: Impact of medical therapy on patient-important outcomes to guide evidence-based treatment recommendations (systematic review and meta-analysis)

Other publications

*****

*****

*****

*****

*****

*****

Therapeutic Approaches

Cystic fibrosis: Sustained postnatal CFTR activity by systemic in utero gene editing in both respiratory and gastrointestinal tissues of mouse model

Other publications

Biomarkers

Other publications

Diagnostic Approaches

Other publications

Patient Management and Therapy

Hemophilia: Comprehensive summary of the current status of three primary gene therapy approaches at the forefront of clinical development

Other publications

Recommendations

Other publications

Epidemiology

Myasthenia gravis: Short-term and long-term mortality for patients in Denmark from 1985 to 2020

Other publications

Functional Impact

Autoimmune encephalitis: Scope of the current types of quality of life and clinical outcome measures to encompass disease burden

Proximal spinal muscular atrophy: Assessment of the psychometric properties of a set of new patient-reported outcome measures

Tuberous sclerosis complex: Validation of the self‑report quantified Tuberous Sclerosis Complex‑Associated Neuropsychiatric Disorders Checklist (TAND‑SQ)

Other publications

Summary of the edition of 06 October 2025

Editorial

Political news

Scientific news

And also...